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WO2022149911A1 - Metastasis interval-specific marker for diagnosing prognosis of and determining treatment strategy for metastatic solid tumor patient - Google Patents

Metastasis interval-specific marker for diagnosing prognosis of and determining treatment strategy for metastatic solid tumor patient Download PDF

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WO2022149911A1
WO2022149911A1 PCT/KR2022/000311 KR2022000311W WO2022149911A1 WO 2022149911 A1 WO2022149911 A1 WO 2022149911A1 KR 2022000311 W KR2022000311 W KR 2022000311W WO 2022149911 A1 WO2022149911 A1 WO 2022149911A1
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mutation
group
splice
fusion
crebbp
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PCT/KR2022/000311
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French (fr)
Korean (ko)
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최영진
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가톨릭대학교 산학협력단
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/118—Prognosis of disease development
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Definitions

  • the present invention provides information necessary for prognosis diagnosis and treatment strategy determination of solid cancer by using a metastasis period-specific marker for prognosis diagnosis of a patient with metastatic solid cancer, a kit for prognosis diagnosis of a solid cancer patient including the same, and a prognostic diagnostic marker for a solid cancer patient. it's about how
  • Cancer is a disease in which the cell cycle is not regulated and continues to divide.
  • the specific cause of its occurrence is not yet known, but according to what is known so far, normal cell genes or cancer It is known that mutations occur in repressor genes. Based on the statistical data on the cause of death in Korea, these cancers have continued to occupy the top position since the related statistics were compiled in 1983, accounting for 27.5% of deaths in 2019, and 8546 patients in 2020 with cancer. It is expected to die as a result of this, and it is recognized as one of the greatest threats to modern people.
  • Solid cancers are cancers that start in a specific organ, grow and then metastasize. Representatively, there are gastric cancer, lung cancer, colon cancer, and breast cancer. As malignant ones, there are leukemia, multiple myeloma, and malignant lymphoma. Gastric cancer, colorectal cancer, lung cancer, and thyroid cancer, which are types of solid cancer, consistently occupy the 1st to 4th places among the causes of cancer in Korea. If complete resection is possible through resection, chemotherapy is performed after resection. However, due to the nature of cancer, which is a mutated normal cell, the side effects of treatment are large and many patients suffer from sequelae.
  • the present inventors confirmed that the occurrence of specific mutations increases according to the metastasis period in patients with metastatic solid cancer, and the survival rate of each mutation for metastatic solid cancer was analyzed using TCGA patient data and MSKCC sample data. After synthesis, through three feature selections (Information Gain, Chi-Square, MRMR), a marker was developed that can predict the prognosis of patients with solid cancer and help determine treatment strategies.
  • the present invention provides a marker composition for predicting the treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient, comprising a mutation of a gene encoding one or more selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88 aim to
  • compositions for predicting treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient comprising an agent capable of detecting a mutation in a gene encoding one or more selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88 provide for a different purpose.
  • Another object of the present invention is to provide a kit for diagnosing the therapeutic effect or prognosis according to the metastasis period of a solid cancer patient, comprising the composition.
  • the present invention comprises the steps of preparing a sample DNA from a sample of a solid cancer patient; amplifying the sample DNA using the kit; and confirming the presence or absence of a metastasis period-specific marker from the amplification result.
  • Another object of the present invention is to provide a method for providing information necessary for prognostic diagnosis of solid cancer according to the metastasis period of a solid cancer patient.
  • the present invention includes a mutation in a gene encoding one or more selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88, for predicting treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient
  • a marker composition is provided.
  • the present invention includes an agent capable of detecting a mutation of one or more genes encoding one or more selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88.
  • a diagnostic composition is provided.
  • the mutation of the gene encoding CREBBP may be one or more selected from the group consisting of the following mutations encoded by SEQ ID NO: 1.
  • At least one frame shift selected from the group consisting of L1346Ffs*8, I1084Nfs*3, Q1209Tfs*25, P1947Tfs*19, S1172Qfs*7, P2077Afs*264, H397Afs*30, S1737Rfs*8, G77Afs*9 and S1598Kfs*19. frame shift insert mutation;
  • At least one inframe delete mutation selected from the group consisting of S1680del K1588del and Q2216del;
  • CREBBP-CRAMP1L fusion CREBP-NARFL fusion, TRAP1-CREBBP fusion, CREBBP-intragenic, CREBBP-TRAP1 fusion, CREBBP-TIGD7 fusion, TSG1-CREBBP fusion, CREBBP-SRRM2 fusion, CREBBP-TBL3 fusion and CREBBP-DNASE1 fusion consisting of at least one fusion mutation selected from the group.
  • the mutation of the gene encoding ESR1 may be one or more selected from the group consisting of the following mutations encoded by SEQ ID NO:2.
  • At least one nonsense mutation selected from the group consisting of Y60*, C245*, E444*, R256* and K401*;
  • At least one frame shift delete mutation selected from the group consisting of L536Qfs*2, P99Hfs*10, I326Yfs*17, P99Hfs*10, G96Vfs*13 and *594fs*;
  • At least one frame shift insert mutation selected from the group consisting of L100Tfs*57, G521Rfs*18 and E275Gfs*5;
  • At least one inframe insert mutation selected from the group consisting of D538_L539insHD and Q500dup;
  • At least one inframe delete mutation selected from the group consisting of V422del and Y328_S329del;
  • At least one fusion mutation selected from the group consisting of TACR1-ESR1 fusion, ESR1-NCOA3 fusion and ESR1-C6orf97 fusion.
  • the mutation of the gene encoding GATA3 may be one or more selected from the group consisting of the following mutations encoded by SEQ ID NO:3.
  • At least one nonsense mutation selected from the group consisting of Q73*, R366*, R390*, K377* and S381*;
  • At least one inframe delete mutation selected from the group consisting of K358del, Y345del and M356_K387del;
  • At least one splice mutation selected from the group consisting of X349_splice and X350_splice;
  • At least one fusion mutation selected from the group consisting of GATA3-intragenic and LOC100128811-GATA3 fusion.
  • the mutation of the gene encoding H3F3B may be one or more selected from the group consisting of the following mutations encoded by SEQ ID NO: 4.
  • At least one missense mutation selected from the group consisting of E106K, V47G, D78N, F105L, D107N, E106K, G13R, K5M, R3G, E98K, S32C, Q69K, R18L, A25V, R9S, Q6P, I78T and Q6H;
  • At least one nonsense mutation selected from the group consisting of E60*, E98* and R50*;
  • At least one frame shift delete mutation selected from the group consisting of R135Sfs*12, F105Kfs*33 and A2Pfs*35;
  • the mutation of the gene encoding MYD88 may be one or more selected from the group consisting of the following mutations encoded by SEQ ID NO: 5.
  • K275T L265P, E139K, S243N, S219C, R301C, R5C, A13V, D184N, M67V, V27A, D288N, P19S, E70K, R301H, S296C, T84A, Y240C, P292T, I130M, T61I, G96D, Q262E, P83S, P11L, P83S at least one missense mutation selected from the group consisting of P9L, R41P, R94H and K271T;
  • At least one nonsense mutation selected from the group consisting of Q159*, Q189* and E172*;
  • At least one fusion mutation selected from the group consisting of MYD88-ACAA1 fusion, MYD88-CTDSPL fusion, OXSR1-MYD88 fusion and MYD88-VILL fusion.
  • FIGS. 1a to 1c are metastatic period-specific mutant gene of 63 ( FIGS. 1a to 1c ) identified through comparative analysis between transition period groups I, II, III and IV.
  • FIGS. 2a to 2e are metastasis period-specific mutant gene of 90 ( FIGS. 2a to 2e ) identified through comparative analysis between transition period groups I and II + III+ IV.
  • FIG. 3 is a metastatic period-specific mutant gene of 33 ( FIGS. 3a to 3b ) identified through comparative analysis between transition period groups I + II and III + IV.
  • 4 to 87 are graphs relating to the total survival rate or disease-free survival rate of a patient with solid cancer having a mutation in the gene (red) and a patient with solid cancer without a mutation in the gene (blue) for each gene specific to the metastasis period.
  • Prostate adenocarcinoma reported to The Cancer Genome Atlas (TCGA) in order to discover a metastasis period-specific marker for differential diagnosis, treatment strategy determination, or prognosis of solid cancer based on the difference in metastasis period of solid cancer patients.
  • Machine learning using data was implemented.
  • metastasis period-specific mutant genes for 157 solid cancers were found, and as a result of selecting genes that overlap with the data of MSKCC (provided by 10945 samples), five solid cancer metastasis period-specific markers (CREBBP, ESR1, GATA3, H3F3B) were selected. and MYD88) were discovered.
  • One aspect of the present invention is from the group consisting of CREBBP (CREB Binding Protein), ESR1 (Estrogen Receptor 1), GATA3 (GATA Binding Protein 3), H3F3B (H3.3 Histone B) and MYD88 (MYD88 Innate Immune Signal Transduction Adapter).
  • CREBBP CREB Binding Protein
  • ESR1 Estrogen Receptor 1
  • GATA3 GATA Binding Protein 3
  • H3F3B H3.3 Histone B
  • MYD88 MYD88 Innate Immune Signal Transduction Adapter
  • Gene bank accession numbers of the genes are CREBBP (Gene bank accession number: NM_004380), ESR1 (Gene bank accession number: NM_000125), GATA3 (Gene bank accession number: NM_001002295), H3F3B (Gene bank accession number: NM_005324), MYD88, respectively (Gene bank accession number: NM_001172567).
  • the mutation of the gene encoding CREBBP may be one or more selected from the group consisting of the following mutations encoded by SEQ ID NO: 1.
  • At least one frame shift selected from the group consisting of L1346Ffs*8, I1084Nfs*3, Q1209Tfs*25, P1947Tfs*19, S1172Qfs*7, P2077Afs*264, H397Afs*30, S1737Rfs*8, G77Afs*9 and S1598Kfs*19. frame shift insert mutation;
  • At least one inframe delete mutation selected from the group consisting of S1680del K1588del and Q2216del;
  • CREBBP-CRAMP1L fusion CREBP-NARFL fusion, TRAP1-CREBBP fusion, CREBBP-intragenic, CREBBP-TRAP1 fusion, CREBBP-TIGD7 fusion, TSG1-CREBBP fusion, CREBBP-SRRM2 fusion, CREBBP-TBL3 fusion and CREBBP-DNASE1 fusion consisting of at least one fusion mutation selected from the group.
  • the mutation of the gene encoding ESR1 may be one or more selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 2.
  • At least one nonsense mutation selected from the group consisting of Y60*, C245*, E444*, R256* and K401*;
  • At least one frame shift delete mutation selected from the group consisting of L536Qfs*2, P99Hfs*10, I326Yfs*17, P99Hfs*10, G96Vfs*13 and *594fs*;
  • At least one frame shift insert mutation selected from the group consisting of L100Tfs*57, G521Rfs*18 and E275Gfs*5;
  • At least one inframe insert mutation selected from the group consisting of D538_L539insHD and Q500dup;
  • At least one inframe delete mutation selected from the group consisting of V422del and Y328_S329del;
  • At least one fusion mutation selected from the group consisting of TACR1-ESR1 fusion, ESR1-NCOA3 fusion and ESR1-C6orf97 fusion.
  • the mutation of the gene encoding GATA3 may be one or more selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 3.
  • At least one nonsense mutation selected from the group consisting of Q73*, R366*, R390*, K377* and S381*;
  • At least one inframe delete mutation selected from the group consisting of K358del, Y345del and M356_K387del;
  • At least one splice mutation selected from the group consisting of X349_splice and X350_splice;
  • At least one fusion mutation selected from the group consisting of GATA3-intragenic and LOC100128811-GATA3 fusion.
  • the mutation of the gene encoding H3F3B may be one or more selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 4.
  • At least one missense mutation selected from the group consisting of E106K, V47G, D78N, F105L, D107N, E106K, G13R, K5M, R3G, E98K, S32C, Q69K, R18L, A25V, R9S, Q6P, I78T and Q6H;
  • At least one nonsense mutation selected from the group consisting of E60*, E98* and R50*;
  • At least one frame shift delete mutation selected from the group consisting of R135Sfs*12, F105Kfs*33 and A2Pfs*35;
  • the mutation of the gene encoding MYD88 may be one or more selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 5.
  • K275T L265P, E139K, S243N, S219C, R301C, R5C, A13V, D184N, M67V, V27A, D288N, P19S, E70K, R301H, S296C, T84A, Y240C, P292T, I130M, T61I, G96D, Q262E, P83S, P11L, P83S at least one missense mutation selected from the group consisting of P9L, R41P, R94H and K271T;
  • At least one nonsense mutation selected from the group consisting of Q159*, Q189* and E172*;
  • At least one fusion mutation selected from the group consisting of MYD88-ACAA1 fusion, MYD88-CTDSPL fusion, OXSR1-MYD88 fusion and MYD88-VILL fusion.
  • the solid cancer is bladder cancer, colon cancer, stomach cancer, lung cancer, lung adenocarcinoma, breast invasive ductal carcinoma , Colon adenocarcinoma, Prostate adenocarcinoma, Bladder urothelial carcinoma, Lung squamous cell carcinoma, Cutaneous melanoma, Cancer of unknown origin of unknown primary), Pancreatic adenocarcinoma, Glioblastoma multiforme, Colorectal adenocarcinoma, High grade serous ovarian cancer, Stomach adenocarcinoma, renal cell carcinoma ( Renal clear cell carcinoma), esophageal adenocarcinoma, testicular cancer, or intrahepatic cholangiocarcinoma.
  • the metastasis period-specific marker of a solid cancer patient can be used to predict the risk of metastasis over time after the onset of cancer, and can be used for predicting the prognosis (survival) of a patient with metastasis. have.
  • the present invention includes an agent capable of detecting a mutation of one or more genes encoding one or more selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88.
  • a diagnostic composition is provided.
  • a composition for predicting treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient comprising an agent capable of detecting a mutation in a gene encoding one or more selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88.
  • the term 'cancer' includes any member of a class of diseases characterized by the uncontrolled growth of abnormal cells.
  • the term includes all known cancers and neoplastic conditions, whether characterized as malignant, benign, soft tissue or solid, and cancers of all stages and grades, including, but not limited to, cancers before and after metastasis.
  • Pancreatic ductal adenocarcinoma Pancreatic adenocarcinoma
  • Glioblastoma multiforme Colorectal adenocarcinom
  • the term 'gene' and its variants include DNA fragments involved in the production of polypeptide chains; It includes regions before and after the coding region, eg promoters and 3'-untranslated regions, respectively, as well as intervening sequences (introns) between individual coding fragments (exons).
  • the term 'metastasis period' refers to the time point at which metastasis occurs in metastatic solid cancer.
  • the mutation of the gene may include any one or more mutations, for example, a truncating mutation, a missense mutation (or a missense mutation), a nonsense mutation, a frame shift ) mutations, in-frame mutations (or in-frame mutations), splice mutations, splice_region mutations, nonstop mutations, nonstart mutations and fusions ) may have at least one mutation selected from the group consisting of mutations.
  • the frame shift mutation may be at least one of a frame shift insert (FS ins) mutation and a frame shift delete mutation (FS del), and the in-frame mutation is an in-frame insertion (in-frame) mutation. It may be at least one of a frame insertion, IF ins) mutation and an in-frame delete (IF del) mutation.
  • the term 'missense mutation' refers to a mutation in which one base in a DNA base sequence is substituted with another base to change the codon of an amino acid to another codon.
  • the term 'nonsense mutation' refers to a mutation in which a part of a specific nucleotide sequence of a gene is converted to a stop codon, so that protein synthesis is no longer made.
  • the term 'frame shift insertion' refers to a mutation that occurs when one or more nucleotides are added to DNA to shift the decoding frame of the genetic code.
  • the term 'frame shift deletion' refers to a mutation in which one or more nucleotides are deleted in DNA and the reading frame of the genetic code is shifted and shifted.
  • the term 'in-frame insertion' refers to a mutation in which a specific nucleotide sequence of a gene has been inserted, but the remaining amino acids except for the amino acid by the inserted nucleotide sequence are not changed.
  • the term 'in-frame deletion' refers to a mutation in which a specific nucleotide sequence of a gene is deleted, but the remaining amino acids except for the amino acid caused by the deleted nucleotide sequence are not changed.
  • the term 'splice site mutation' refers to a gene mutation in which a nucleotide at a specific position of a gene is substituted.
  • the term 'non-start mutation' refers to a gene mutation in which the start codon is lost due to base substitution or frame shift.
  • 'non-stop mutation' refers to a gene mutation in which a stop codon is lost due to base substitution or frame shift.
  • the term 'fusion mutation' refers to a gene mutation in which a structural abnormality occurs through structural rearrangement (translocation, inversion, deletion, and insertion) or non-structural rearrangement (over-translation, etc.) of specific genes.
  • X#Y in reference to mutations in a polypeptide sequence is self-recognized in the art, where "#” indicates the mutation site with respect to the amino acid number of the polypeptide, and "X” is that of the wild-type amino acid sequence. indicates the amino acid found at that position, and "Y” indicates the mutant amino acid at that position.
  • the designation "G1717V” with respect to a BAZ2B polypeptide indicates that glycine is present at amino acid number 1717 of the wild-type BAZ2B sequence and that glycine has been replaced by valine in the mutant BAZ2B sequence.
  • _ with respect to a mutation in a polypeptide sequence is readily recognized in the art, where “_” denotes a range and, for example, when A200_C240 is used, the alanine of the 200 amino acid sequence of the polypeptide. ) to the cysteine located at amino acid sequence 240 is indicated.
  • del in reference to a mutation in a polypeptide sequence is readily recognized in the art where “del” denotes a deletion, e.g., when used as V7del, the 7th position in a particular sequence, the valine , and when used as V76_S79del, it means a mutation in which a deletion from valine located at position 76 to serine located at position 79 in a specific sequence occurs.
  • ins with respect to a mutation in a polypeptide sequence is art-recognized as self-evident in the art where "ins” denotes an insertion, e.g., when used as V76_S77insV, from valine at position 76 to 77 in a particular sequence. It means a mutation in which valine is inserted between the serine located at the berth.
  • fs in reference to mutations in a polypeptide sequence is art-recognized as self-evident in the art where “fs” stands for a frame shift, e.g. when used as V97SfsTer23 or V97Sfs*23, the 97th position in a particular sequence It indicates that the valine located at position is changed to serine and there is a termination codon (Termination, Ter) at the position 23 (120th amino acid sequence) after it, and when V76_S79*? , means a mutation in which a new stop codon does not appear.
  • fs stands for a frame shift, e.g. when used as V97SfsTer23 or V97Sfs*23, the 97th position in a particular sequence It indicates that the valine located at position is changed to serine and there is a termination codon (Termination, Ter) at the position 23 (120th amino acid sequence) after it, and when V76_S79*? , means a mutation
  • fusion in reference to a mutation in a polypeptide sequence is self-recognized in the art where "fusion” refers to the fusion of genes, eg BCR, which is known to cause chronic myeloid leukemia.
  • -ABl fusion refers to a fusion mutation in which the BCR and ABL genes are fused by translocation.
  • the fusion method is not limited thereto, but may be fused through structural rearrangement (translocation, inversion, deletion and insertion) or non-structural rearrangement (overtranslation, etc.).
  • NGS Next generation sequencing
  • RT-PCR reverse transcriptase-PCR
  • direct nucleic acid sequencing and microarray
  • microarray can be used as an analysis method for diagnosing the prognosis of solid cancer using the mutation of the gene, and the gene of the present invention Any method that can confirm the existence of a mutation using a mutation of
  • the presence of a mutation is determined using an anti-(mutant of each gene) antibody or nucleic acid probe that hybridizes under stringent conditions to the polynucleotide of the mutation of each gene.
  • the antibody or nucleic acid probe is detectably labeled.
  • the label is selected from the group consisting of an immunofluorescent label, a chemiluminescent label, a phosphorescent label, an enzymatic label, a radioactive label, avidin/biotin, colloidal gold particles, colored particles, and magnetic particles.
  • the presence of the mutation is determined by radioimmunoassay, western blot assay, immunofluorescence assay, enzymatic immunoassay, immunoprecipitation assay, chemiluminescence assay, immunohistochemical assay, dot blot assay, slot blot assay, or flow cytometry. determined by the assay.
  • the presence of the mutation is determined by RT-PCR. In another embodiment, the presence of a mutation is determined by nucleic acid sequencing.
  • polynucleotide generally refers to any polyribonucleotide or polydeoxyribonucleotide, which may be unmodified RNA or DNA or modified RNA or DNA.
  • polynucleotides as defined herein include, but are not limited to, single- and double-stranded DNA, DNA comprising single- and double-stranded regions, single- and double-stranded RNA, and single- and double-stranded DNA.
  • RNA comprising a single-stranded region, or a hybrid comprising DNA and RNA, which may be single-stranded or more typically double-stranded or may comprise single- and double-stranded regions
  • DNA or RNA having a backbone that has been modified for stability or other reasons is a 'polynucleotide' as the term is intended herein.
  • DNA or RNA comprising an unconventional base such as inosine or a modified base such as a tritiated base is also included in the term 'polynucleotide' as defined herein.
  • DNA or RNA comprising an unconventional base such as inosine or a modified base such as a tritiated base.
  • the term 'polynucleotide' includes all chemically, enzymatically and/or metabolically modified forms of unmodified polynucleotides.
  • Polynucleotides can be prepared by a variety of methods, including in vitro recombinant DNA-mediated techniques, and by expression of DNA in cells and organisms.
  • Another aspect of the present invention is to provide a kit for predicting treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient, comprising the composition.
  • the kit of the present invention prepared as described above is very economical because it saves time and money compared to the existing general gene mutation search method.
  • existing gene mutation detection methods such as Single Strand Conformational Polymorphism (SSCP), Protein Truncation Test (PTT), cloning, and direct sequencing, it takes several days on average to test all one gene. It takes several months.
  • gene mutations can be precisely examined quickly and simply through next generation sequencing (NGS).
  • SSCP Single Strand Conformational Polymorphism
  • PTT Protein Truncation Test
  • NGS next generation sequencing
  • Another aspect of the present invention comprises the steps of preparing sample DNA from a sample of a solid cancer patient whose time point (metastasis period) is known; amplifying the sample DNA using the kit; confirming the presence or absence of a metastasis period-specific marker from the amplification result; treating a solid cancer patient for which a metastasis period-specific marker has been identified, or treating a solid cancer treatment candidate by any method; And when any solid cancer treatment candidate material or any treatment method improves or treats solid cancer, adopting it as a treatment candidate or treatment method suitable for a solid cancer patient whose metastasis period-specific marker has been identified; metastasis of solid cancer patients, including Provided is a method for providing information necessary to determine a difference in cancer treatment effect over time.
  • the method may be a mutation of a gene encoding one selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88, which are the metastasis period-specific markers.
  • the metastasis period group I-specific metastasis period-specific marker among metastatic solid cancer patients may be a mutation in genes encoding ESR1, GATA3 and MYD88.
  • the metastasis period group II-specific metastasis period-specific marker among metastatic solid cancer patients may be a mutation in a gene encoding H3F3B.
  • the metastasis period group III-specific metastasis period-specific marker among metastatic solid cancer patients may be a mutation in genes encoding CREBBP, ESR1 and GATA3.
  • Another aspect of the present invention comprises the steps of preparing a sample DNA from a sample of a solid cancer patient; amplifying the sample DNA using the kit; and confirming the presence or absence of a metastasis period-specific marker from the amplification result.
  • any of the therapeutic candidate substances may be a therapeutic agent commonly used for the treatment of solid cancer or a novel substance whose therapeutic effect on solid cancer is unknown, but is not limited thereto.
  • Any solid cancer treatment method is also applicable instead of any of the above treatment candidates, and by confirming the therapeutic effect in a patient group having a specific metastasis period-specific marker, it can be determined whether to apply to a patient group having the same metastasis period-specific marker. .
  • any treatment candidate substance and any solid cancer treatment method may be combined.
  • sample' includes any biological sample obtained from a patient.
  • Samples include whole blood, plasma, serum, red blood cells, white blood cells (eg peripheral blood mononuclear cells), ductal fluid, ascites, pleural efflux, nipple aspirate, lymphatic fluid (eg, disseminated tumors of lymph nodes). cells), bone marrow aspirate, saliva, urine, feces (i.e. feces), sputum, bronchial lavage fluid, tears, microneedle aspirate (e.g.
  • tissue A sample eg tumor tissue
  • a tumor biopsy eg puncture biopsy
  • lymph node eg sentinel lymph node biopsy
  • a tissue sample eg tumor tissue
  • the term 'patient' usually includes humans as well as other animals, such as other primates, rodents, dogs, cats, horses, sheep, pigs, and the like.
  • the term 'subject' includes subjects other than humans diagnosed or suspected of having a solid cancer.
  • the method can predict the overall survival or disease-free survival of patients with solid cancer.
  • the term 'overall survival' includes a clinical endpoint describing a patient who is alive for a finite time after being diagnosed with or treated for a disease, such as cancer, and the survival rate with or without cancer recurrence. means possibility.
  • the term 'disease-free survival (DFS)' includes a period in which a patient survives without cancer recurrence after treatment for a specific disease (eg, cancer).
  • an individual known to have a good prognosis means an individual who has no history of metastasis, recurrence, death, etc. after cancer has developed.
  • a sample of an individual suspected of having cancer refers to a sample of an individual or tissue in which cancer or tumor has already occurred or is expected to occur, and is a target sample for diagnosing the prognosis.
  • the method of providing information necessary for prognostic diagnosis of solid cancer according to the metastasis period of the solid cancer patient can predict the total survival rate or disease-free survival rate of the solid cancer patient.
  • a mutation is identified in a gene encoding CREBBP, ESR1, GATA3, H3F3B and MYD88, and in the case of a solid cancer patient, the survival rate of the solid cancer patient is lower than the survival rate of a person in which the mutation is not identified in the gene. or, determining that the recurrence rate of solid cancer of the solid cancer patient is higher than that of solid cancer of a person whose mutation is not confirmed in the gene; may further include.
  • the mutations of the present invention for CREBBP, ESR1, GATA3, H3F3B and MYD88 the content that there is a difference in gene mutation according to the onset and metastasis period of cancer, particularly solid cancer, has not been revealed yet.
  • the prognosis for solid cancer can be diagnosed in a specific metastasis period using the mutation of the present invention.
  • the total survival rate or disease-free survival rate may be different for each gene.
  • the present inventors have identified for the first time that mutations in the above genes can be used as diagnostic markers for predicting the difference in the treatment effect of solid cancer according to the metastasis period of the solid cancer patient or diagnosing the prognosis of the solid cancer patient.
  • the method for providing information necessary for predicting the difference in the treatment effect of solid cancer according to the metastasis period of the solid cancer patient of the present invention is to diagnose the genetic mutation of the solid cancer based on the metastasis period, increase the survival rate of the solid cancer patient, or reduce the recurrence rate It can be used to lower Through the method for prognostic diagnosis of solid cancer of the present invention, it is possible to predict the therapeutic effect of solid cancer, or the survival or recurrence rate of solid cancer patients, using information on gene mutations according to the onset and metastasis period of solid cancer. It can provide information not only in the discovery of therapeutic agents, but also in the selection of therapies, so that it is possible to efficiently design a therapeutic strategy for solid cancer.
  • CREBBP genes of the present invention
  • ESR1, GATA3, H3F3B and MYD88 genes of the present invention
  • TCGA Cancer Genome Atlas
  • Table 1 shows data on the sex and metastasis period (time metastasis occurred) of solid cancer patients.
  • the above candidate genes are genes that have been mutated in solid cancer patients according to the metastasis period.
  • Table 2 for each of the four metastasis period groups divided by group, the association between the occurrence of mutations in candidate genes and the metastasis period of metastatic solid cancer patients was confirmed. A P-value of less than 0.05 was considered as statistically significant and excavated as a metastasis period-specific marker.
  • Tables 3 to 6 below show information on candidate genes related to test set 1.
  • H3F3B was finally selected as a metastasis period group II-specific marker.
  • Example 2 Based on the clinical information obtained in Example 1 of metastatic solid cancer of each candidate gene, the overall survival kaplan-meier estimate and the disease free survival kaplan-meier estimate were calculated by the Kaplan Meier survival assay (Spss 21). saved In the total survival period, death was defined as an event, and in the disease-free survival period, recurrence of solid cancer was determined as an event. In order to determine whether the occurrence of mutations in each of the above genes is correlated with the death or recurrence of solid cancer in patients with metastatic solid cancer, based on the event time of each group obtained by the Kaplan Meier survival assay.
  • the association between mutagenesis and total survival and the association between mutagenesis and disease-free survival were confirmed by log rank test, and a P-value of less than 0.05 was considered statistically significant.
  • the experimental group was the case with alterations in query gene, and the control group was the case without alterations in query gene.
  • the median months survival means a value located at the center when the survival periods of patients in the corresponding group are listed.
  • the median disease-free survival period (median months desease free) means a value located at the center when the survival period of patients in the relevant group is listed.
  • the slope in the survival curve by the Kaplan Meier survival assay is determined by the duration of survival.
  • the present inventors have identified 17 representative metastatic solid cancer types (Lung adenocarcinoma, Breast invasive ductal carcinoma), Colon adenocarcinoma, Prostate adenocarcinoma, and Bladder urothelial carcinoma.
  • ESR1 mutations are shown in Tables 50 to 63 below
  • GATA3 mutations are shown in Tables 64 to 78 below
  • H3F3B mutations are shown in Tables 79 and 80 below
  • mutations in MYD88 are It is shown in Tables 81 to 83 below.
  • R1446H Missense Diploid 32 0.10 4 P-0001511-T01-IM3 Anal Squamous Cell Carcinoma R1446H Missense Diploid 0.06 3 P-0005203-T01-IM5 Anal Squamous Cell Carcinoma R1446H Missense Diploid 32 0.27 3 P-0005765-T01-IM5 Diffuse Large B-Cell Lymphoma,... R1446H Missense Diploid 32 0.26 6 P-0010236-T01-IM5 Bladder Urothelial Carcinoma R1446H Missense Diploid 32 0.11 13 P-0008965-T01-IM5 Diffuse Large B-Cell Lymphoma,...
  • W1502C Missense Diploid 6 0.28 11 P-0011582-T01-IM5 Follicular Lymphoma W1472G Missense Diploid 3 0.36 10 P-0000323-T01-IM3 Small Cell Lung Cancer W1502L Missense Diploid 6 0.16 13 P-0005732-T01-IM5 Small Cell Lung Cancer R1446_T1447delinsLS Missense Diploid 0.47 17 P-0006209-T01-IM5 Bladder Urothelial Carcinoma I1431S Missense Diploid 0.39 27 P-0009940-T01-IM5 Cutaneous Squamous Cell Carcin...
  • CREBBP-intragenic Fusion Diploid 23 P-0007114-T01-IM5 Lung Adenocarcinoma CREBBP-intragenic Fusion Diploid 9 P-0009393-T01-IM5 Prostate Adenocarcinoma CREBBP-intragenic Fusion Diploid One P-0010740-T01-IM5 Small Cell Lung Cancer CREBBP-intragenic Fusion Diploid 11 P-0000891-T01-IM3 Bladder Urothelial Carcinoma V2012Sfs*28 FS del Diploid 0.24 11 P-0001806-T01-IM3 Hepatocellular Carcinoma N2181Kfs*5 FS del Diploid 0.46 4
  • T1688M Missense Diploid 2 0.26 47 P-0009892-T01-IM5 Prostate Adenocarcinoma R2104C Missense Diploid 3 0.09 46 P-0006612-T01-IM5 Colon Adenocarcinoma R1664C Missense Diploid 5 0.21 357 P-0007596-T01-IM5 Colon Adenocarcinoma T1260M Missense Diploid 0.09 58 P-0005845-T01-IM5 Lung Adenocarcinoma T950M Missense Diploid One 0.06 3 P-0006879-T01-IM5 Glioblastoms Multiforme C1408Y Missense Diploid One 0.33 9 P-0007273-T01-IM5 Diffuse Large B-Cell Lymphoma,...
  • P766L Missense Diploid 0.17 45 P-0004423-T01-IM5 Merkel Cell Carcinoma P928S Missense Diploid One 0.18 31 P-0007159-T01-IM5 Intestinal Type Stomach Adenoc... R1800Q Missense Diploid 2 0.26 4 P-0004928-T01-IM5 Colon Adenocarcinoma V1371F Missense Diploid 0.47 8 P-0001042-T01-IM3 Cutaneous Squamous Cell Carcin...
  • E1400Q Missense Diploid 0.30 39 P-0005449-T01-IM5 Bladder Urothelial Carcinoma E1400Q Missense Diploid 0.26 36 P-0002582-T01-IM3 Breast Mixed Ductal and Lobula...
  • P1488L Missense Diploid 2 0.85 5 P-0006265-T01-IM5 Lung Squamous Cell Carcinoma P1488L Missense Diploid 2 0.10 28 P-0007071-T01-IM5 Gallbladder Cancer E548K Missense Diploid 0.15 7 P-0012358-T01-IM5 Uterine Endometrioid Carcinoma D1309N Missense Diploid 0.40 455 P-0010423-T01-IM5 Langerhans Cell Histiocytosis M2155_G2120dup IF ins Diploid 0.10 2
  • P248S Missense Diploid 0.05 66 P-006785-T01-IM5 Small Cell Lung Cancer
  • P308S Missense Diploid 0.26 11 P-0007000-T01-IM5 Bladder Urothelial Carcinoma
  • S1030F Missense Diploid 0.06
  • P957A Missense Diploid 0.37 6
  • S646N Missense Diploid One 0.15 421 P-0007403-T01-IM5 Basaloid Large Cell Carcinoma...
  • V2056M Missense Diploid 0.28 16 P-0002265-T02-IM5 Glioblastoma Multiforme A467T Missense Diploid 2 0.09 147 P-0010916-T01-IM5 Lung Adenocarcinoma H1413P Missense Diploid 0.34 46 P-0001817-T02-IM5 Lung Adenocarcinoma V1722E Missense Diploid 0.08 7 P-0011157-T01-IM5 Lung Adenocarcinoma A924S Missense Diploid 0.09 14
  • R218T Missense Diploid 0.07 32 P-0012400-T01-Im5 Lung Cell Neuroendocrine Carc...
  • G214V Missense Diploid 0.07 32 P-0012397-T01-IM5 Uterine Endometrioid Carcinoma
  • S121I Missense Diploid 0.07 223 P-0008916-T01-IM5 Marginal Zone Lymphoma
  • G1411R Missense Diploid 4 0.08 3
  • P-0010969-T01-IM5 Follicular Lymphoma N135I Missense Diploid 0.17 7 P-0010969-T01-IM5 Follicular Lymphoma T1332P Missense Diploid 0.17 7 P-0011007-T01-IM5 Diffuse Large B-Cell Lymphoma,...
  • D538G Missense Diploid 2 0.35 P-0001979-T01-IM3
  • D538G Missense Diploid 2 0.21 One P-0002232-T01-IM3 Breast Invasive Lobular Carcin...
  • V533M Missense Diploid 3 0.56 21 P-0001279-T01-IM3 Anaplastic Oligoastrocytoma V392I Missense Diploid 2 0.30 7 P-0012358-T01-IM5 Uterine Endometrioid Carcinoma D218N Missense Diploid One 0.26 455 P-0005326-T01-IM5 Colon Adenocarcinoma I326Yfs*17 FS del Diploid 0.23 82 P-0000237-T01-IM3 Cutaneous Squamous Cell Carcin... Q159L Missense Diploid 0.14 34 P-0000396-T01-IM3 Oropharynx Squamous Cell Carci...
  • T4A Missense Diploid 0.09 12 P-0005353-T01-IM5 Poorly Differentiated Non-Smal...
  • E247* Missense Diploid 0.16 25 P-0005558-T01-IM5
  • Pancreatic Adenocarcinoma R211S Missense Diploid One 0.07 9 P-0005603-T01-IM5
  • Glioblastoma Multiforme R260K Missense Diploid 0.40 5 P-0006169-T01-IM5 Breast Invasive Ductal Carcinoma
  • D538_L539insHD IF ins Diploid 0.12 5 P-0006634-T01-IM5 Ampullary Carcinoma K401* Nonsense Diploid 0.13 11 P-006630-T01-IM5 Small Cell Lung Cancer
  • L15V Missense Diploid 0.25 10 P-0007319-T01-IM5 Basaloid Penile Squmous Cell...
  • P299L Missense Diploid 0.42 107 P-0009985-T01-IM5 Uterine Endometrioid Carcinoma S230N Missense Diploid 0.26 33 P-0010027-T01-IM5 Lung Squamous Cell Carcinoma A441D Missense Diploid 0.36 13 P-0010126-T01-IM5 Lung Adenocarcinoma T71M Missense Diploid 0.07 9 P-0010515-T01-IM5 Synovial Sarcoma D335E Missense Diploid 0.25 3 P-0010904-T01-IM5 Lung Adenocarcinoma D335Y Missense Diploid 0.43 42 P-0011138-T01-IM5 Lung Adenocarcinoma A176G Missense Diploid 0.11 6 P-0011452-T01-IM5 Lung Squamous Cell Carcinoma P135T Missense Diploid 0.05 5 P-0002052-T01-IM3 Lung Adenosquamous Carcinoma P
  • L265P Missense Diploid 1173 0.41 28 P-0006825-T01-IM5 Colon Adenocarcinoma L265P Missense Diploid 1173 0.04 3 P-006899-T01-IM5 Mature B-Cell Neoplams L265P Missense Diploid 1173 0.35 4 P-0007821-T02-IM5 Diffuse Large B-Cell Lymphoma,...
  • K271T Missense Diploid 0.42 8 P-0008299-T01-IM5 Diffuse Large B-Cell Lymphoma,... K271T Missense Diploid 0.36 8 P-0011526-T01-IM5 Osteosarcoma MYD88-CTDSPL fusion Fusion Diploid 4 P-0005931-T01-IM5 Lung Squamous Cell Carcinoma OXSR-MYD88 fusion Fusion Diploid 10 P-0009696-T01-IM5 Diffuse Large B-Cell Lymphoma,... MYD88-VILL fusion Fusion Diploid 13

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Abstract

The present invention relates to a marker for diagnosing a prognosis or a difference in solid tumor treatment effect, according to a metastasis interval of a metastatic solid tumor patient. A gene mutation of the present invention is correlated with each of a survival rate or recurrence rate of a solid tumor patient who has a particular metastasis interval, and thus the mutated gene of the present invention may be used as a marker for, on the basis of the metastasis interval, predicting a difference in metastatic solid tumor treatment effect, or a prognosis of the metastatic solid tumor patient.

Description

전이성 고형암 환자의 예후 진단 및 치료 전략 결정용 전이기간 특이적 마커Metastasis period-specific marker for prognosis diagnosis and treatment strategy determination of patients with metastatic solid cancer
본 발명은 전이성 고형암 환자의 예후 진단용 전이기간 특이적 마커, 이를 포함하는 고형암 환자의 예후 진단용 키트, 및 고형암 환자의 예후 진단용 마커를 이용하여 고형암의 예후 진단 및 치료 전략 결정을 위해 필요한 정보를 제공하는 방법에 관한 것이다.The present invention provides information necessary for prognosis diagnosis and treatment strategy determination of solid cancer by using a metastasis period-specific marker for prognosis diagnosis of a patient with metastatic solid cancer, a kit for prognosis diagnosis of a solid cancer patient including the same, and a prognostic diagnostic marker for a solid cancer patient. it's about how
암은 세포주기가 조절되지 않아 세포분열을 계속하는 질병으로, 폐암, 위암, 유방암, 대장암 등이 있으며, 그 구체적인 발생 원인은 아직까지도 밝혀지지 않았으나, 지금까지 알려진 바에 따르면 정상적인 세포의 유전자나 암 억제 유전자에 돌연변이가 생겨서 나타난다고 알려져 있다. 이러한 암은 국내 사망원인 통계 데이터에 근거할 때, 1983년 관련 통계를 작성한 이후 계속해서 1위 자리를 지키고 있으며, 2019년에는 27.5%의 사망원인을 차지하고 있고 2020년에도 8만 546명의 환자가 암으로 인해 사망할 것으로 예상하고 있어, 현대인에게 가장 큰 위협 중 하나로 인식되고 있다.Cancer is a disease in which the cell cycle is not regulated and continues to divide. There are lung cancer, stomach cancer, breast cancer, colorectal cancer, etc. The specific cause of its occurrence is not yet known, but according to what is known so far, normal cell genes or cancer It is known that mutations occur in repressor genes. Based on the statistical data on the cause of death in Korea, these cancers have continued to occupy the top position since the related statistics were compiled in 1983, accounting for 27.5% of deaths in 2019, and 8546 patients in 2020 with cancer. It is expected to die as a result of this, and it is recognized as one of the greatest threats to modern people.
이러한 암은 크게 혈액암과 고형암으로 나눌 수 있는데, 고형암은 특정 장기에서 시작되어 커지다가 전이되는 암으로서, 대표적으로 위암, 폐암, 대장암, 유방암 등이 있고, 혈액암은 혈액(조혈)세포가 악성화된 것으로서, 백혈병, 다발성골수종, 악성림프종 등이 있다. 고형암의 종류인 위암, 대장암, 폐암, 갑상선암은 국내 암 발생원인 중 1위 내지 4위 자리를 꾸준히 차지하고 있고, 이에 따라 고형암의 치료에 대한 중요성이 날로 높아져 가고 있으나, 고형암은 주로 외과적 수술을 통해 완전 절제가 가능하면 절제를 한 다음, 화학요법적 치료를 수행하나, 정상세포가 변이된 것인 암의 특성상 치료에 의한 부작용이 크고 많은 환자가 이로 인한 후유증 등에 고통 받고 있다.These cancers can be largely divided into blood cancers and solid cancers. Solid cancers are cancers that start in a specific organ, grow and then metastasize. Representatively, there are gastric cancer, lung cancer, colon cancer, and breast cancer. As malignant ones, there are leukemia, multiple myeloma, and malignant lymphoma. Gastric cancer, colorectal cancer, lung cancer, and thyroid cancer, which are types of solid cancer, consistently occupy the 1st to 4th places among the causes of cancer in Korea. If complete resection is possible through resection, chemotherapy is performed after resection. However, due to the nature of cancer, which is a mutated normal cell, the side effects of treatment are large and many patients suffer from sequelae.
암을 조기 진단하는 경우 환자의 사망률은 매우 크게 낮아지는데, 예를 들어 1~2 기 대장암 환자의 경우 5년 후 생존율이 90%에 달하지만, 전이가 시작된 4기 대장암 환자의 경우 5년 후 생존율이 10%로 떨어지게 된다. 따라서, 암의 치료에는 조기 진단이 매우 중요하고, 전이성 암의 경우 원발암에서 발견되는 주요 돌연변이를 공유하지만, 종종 전이과정이나 치료과정에서 새로운 변이들이 추가적으로 발생하기도 하는데, 암의 진단을 위한 여러 바이오마커를 개시하고 있는 문헌은 많으나(공개특허 10-2017-0041693), 현재까지 전이성 고형암 환자의 예후까지 측정할 수 있는 마커, 특히 고형암 환자에서 발견되는 환자의 생존율 및 전이기간과의 연관성에 대해서는 아직 연구가 이루어지지 않은 실정이다.If cancer is diagnosed early, the patient's mortality rate is significantly lowered. For example, the survival rate after 5 years for patients with stage 1 and 2 colorectal cancer reaches 90%, but for patients with stage 4 colorectal cancer where metastasis has started, 5 years After that, the survival rate drops to 10%. Therefore, early diagnosis is very important for cancer treatment, and metastatic cancer shares major mutations found in primary cancer, but often new mutations are additionally generated during metastasis or treatment. Although there are many documents disclosing markers (Patent Publication No. 10-2017-0041693), markers that can measure the prognosis of patients with metastatic solid cancer, in particular, the association with the survival rate and metastasis period of patients found in patients with solid cancer have yet to be confirmed. Research has not been done.
상기와 같은 문제점을 해결하기 위해, 본 발명자들은 전이성 고형암 환자에서 전이기간에 따라 특정 돌연변이 발생이 늘어나 있는 것을 확인하고, 각각의 돌연변이의 전이성 고형암에 대한 생존율을 TCGA의 환자 데이터와 MSKCC의 샘플 데이터를 종합한 다음 3가지 Feature Selection(Information Gain, Chi-Square, MRMR)을 통해, 고형암 환자의 예후를 예측하고 및 치료 전략 결정을 도와줄 수 있는 마커를 개발하게 되었다.In order to solve the above problems, the present inventors confirmed that the occurrence of specific mutations increases according to the metastasis period in patients with metastatic solid cancer, and the survival rate of each mutation for metastatic solid cancer was analyzed using TCGA patient data and MSKCC sample data. After synthesis, through three feature selections (Information Gain, Chi-Square, MRMR), a marker was developed that can predict the prognosis of patients with solid cancer and help determine treatment strategies.
이에, 본 발명은 CREBBP, ESR1, GATA3, H3F3B 및 MYD88로 이루어진 군으로부터 선택되는 하나 이상을 암호화하는 유전자의 돌연변이를 포함하는, 고형암 환자의 전이기간에 따른 치료 효과 예측 또는 예후 진단용 마커 조성물을 제공하는 것을 목적으로 한다. Accordingly, the present invention provides a marker composition for predicting the treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient, comprising a mutation of a gene encoding one or more selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88 aim to
또한, CREBBP, ESR1, GATA3, H3F3B 및 MYD88로 이루어진 군으로부터 선택되는 하나 이상을 암호화하는 유전자의 돌연변이를 검출할 수 있는 제제를 포함하는, 고형암 환자의 전이기간에 따른 치료 효과 예측 또는 예후 진단용 조성물을 제공하는 것을 다른 목적으로 한다.In addition, a composition for predicting treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient, comprising an agent capable of detecting a mutation in a gene encoding one or more selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88 provide for a different purpose.
또한, 본 발명은 상기 조성물을 포함하는, 고형암 환자의 전이기간에 따른 치료 효과 예측 또는 예후 진단용 키트를 제공하는 것을 또 다른 목적으로 한다.Another object of the present invention is to provide a kit for diagnosing the therapeutic effect or prognosis according to the metastasis period of a solid cancer patient, comprising the composition.
또한, 본 발명은 고형암 환자의 샘플로부터 시료 DNA를 준비하는 단계; 상기 시료 DNA를 상기 키트를 이용하여 증폭하는 단계; 및 상기 증폭 결과로부터 전이기간 특이적 마커의 유무를 확인하는 단계;를 포함하는 고형암 환자의 전이기간에 따른 고형암의 예후 진단을 위해 필요한 정보를 제공하는 방법을 제공하는 것을 또 다른 목적으로 한다.In addition, the present invention comprises the steps of preparing a sample DNA from a sample of a solid cancer patient; amplifying the sample DNA using the kit; and confirming the presence or absence of a metastasis period-specific marker from the amplification result. Another object of the present invention is to provide a method for providing information necessary for prognostic diagnosis of solid cancer according to the metastasis period of a solid cancer patient.
그러나 본 발명이 이루고자 하는 기술적 과제는 이상에서 언급한 과제에 제한되지 않으며, 언급되지 않은 또 다른 과제들은 아래의 기재로부터 당업자에게 명확하게 이해될 수 있을 것이다.However, the technical problem to be achieved by the present invention is not limited to the above-mentioned problems, and other problems not mentioned will be clearly understood by those skilled in the art from the following description.
상기 목적을 달성하기 위하여, 본 발명은 CREBBP, ESR1, GATA3, H3F3B 및 MYD88로 이루어진 군으로부터 선택되는 하나 이상을 암호화하는 유전자의 돌연변이를 포함하는, 고형암 환자의 전이기간에 따른 치료 효과 예측 또는 예후 진단용 마커 조성물을 제공한다.In order to achieve the above object, the present invention includes a mutation in a gene encoding one or more selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88, for predicting treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient A marker composition is provided.
또한, 본 발명은 CREBBP, ESR1, GATA3, H3F3B 및 MYD88로 이루어진 군으로부터 선택되는 하나 이상을 암호화하는 유전자의 돌연변이를 검출할 수 있는 제제를 포함하는, 고형암 환자의 전이기간에 따른 치료 효과 예측 또는 예후 진단용 조성물을 제공한다.In addition, the present invention includes an agent capable of detecting a mutation of one or more genes encoding one or more selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88. A diagnostic composition is provided.
본 발명의 일구현예로, CREBBP을 암호화하는 유전자의 돌연변이는 서열번호 1이 암호화하는 하기 돌연변이로 이루어진 군에서 선택된 하나 이상일 수 있다.In one embodiment of the present invention, the mutation of the gene encoding CREBBP may be one or more selected from the group consisting of the following mutations encoded by SEQ ID NO: 1.
Y2189S, Q1756E, S2394F, L829F, S977L, A259T, R1328M, G587R, R672L, T345I, Y1622H, D1480N, P988S, P1096A, R351H, G689R, A2265V, Q662H, R1446C, R1446H, W1502C, Y1450D, D1435G, W1472R, Y1503H, R1446S, L1499Q, D1435N, R1446P, Y1450N, Y1482C, W1502R, Y1482N, Y1482D, L1499R, W1502C, W1472G, W1502L, I1431S, R1446C, I1431N, Y1503N, V1802M, S1778L, T396K, A1782V, E1550Q, S2372L, T1688M, R2104C, R1664C, T1260M, T950M, C1408Y, R424Q, R625H, R1081H, R601Q, P248L, M1798I, S1072F, P949L, A1824T, R1682H, R1428C, A206V, Y1167C, A2144V, V1650I, A259T, V1634M, T872M, R1427W, S1136Y, D1481N, E1243D, F1439L, R1319Q, R714C, E1012K, R1347W, D1481G, D1273N, A1944P, K1809R, E1247K, P2038L, G706R, P766L, P928S, R1800Q, V1371F, R714H, S945L, A557T, R669W, R1392Q, S71L, S32L, G896R, R1602H, R519K, C1240Y, N645K, P107L, Y1973H, N2141K, S554F, R742L, Q963H, T862M, G21D, A698V, A533T, G2010E, A1510V, P907S, R1851H, Q2292R, Q249H, R1498Q, N530S, S1923R, G1145W, K1139T, R1866C, P2285H, A1398V, M2192I, T1932M, Q1698L, G1699D, E1020G, N522S, P1889L, H2178Y, P2011S, I1455N, S2065N, K1269N, Q1928H, A259S, R2353W, Y1828C, N797K, P496L, R1378L, S791T, G1404S, Q1941L, T959A, S2076L, H1451R, Q887K, L1211S, R1800L, V992L, I678M, G252C, H1470L, Q1113H, Q102R, D2433G, E1099K, T1210A, L869F, T537P, V460F, E2404K, A787V, M1021I, P552L, L833V, E637K, P2331S, V89M, A2066T, R1964C, E1000K, D1156N, T1902M, S767Y, E1459Q, E1452K, N374I, Q1879E, G2162R, E1400Q, F1540S, S893W, E1501K, H1351D, S479I, H1485Y, D1276H, Q2299K, E1626Q, T320I, Q1152E, S2377L, K1271R, R1960Q, E1528K, Y1433H, L1329R, A2392T, A2419V, Y1125H, S1207F, E1088K, R1317K, V2149M, S139N, P975S, G1305D, R624C, T4668S, P1953S, S247F, S2361F, T1242S, V1429M, L33F, D1543V, S566F, R1341P, P2383L, S2372W, D2282H, Y1433N, P704L, L2198Q, S554F, P2352L, P2415L, G219V, P1489T, QP1257HS, P1488L, E548K, D1309N, V1371D, E1400K, E1576D, A1739V, Q610H, L161M, W1545L, C1199F, H2384R, E1963D, V2002M, Q786P, Q887E, G822A, P528L, A924T, L1181R, F22L, V1818M, P432S, Q2103K, V1704F, E371Q, D1420A, P2331L, R2195K, P1110L, V824M, D599N, G268R, P2187L, P2155S, S2345F, E996K, G591S, A2046V, Q2324K, M2391I, V1429A, G2132V, G57E, R1441Q, P173L, T586I, Q842H, P248S, P308S, S1030F, P957A, S646N, R1985L, G1418V, M481V, P543L, P2311L, A2170T, A924V, E1715K, D1263N, P1997L, P1951L, R1173G, P1991L, E1285K, G1374E, S2322L, L353V, G2306V, H1712Y, L2171F, M1625N, P1208S, H1738N, M1981I, Q1863R, L679F, W1745C, G2236E, G1753V, A1093V, V2056M, A476T, H1413P, V1722E, A924S, R1866L, R1926W, F1632V, A1870P, C398Y, L2254F, E2191K, K1269N, R218T, G214V, S121I, G1411R, N1350I, T1332P, P1488T, D1480H 및 I1483S로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;Y2189S, Q1756E, S2394F, L829F, S977L, A259T, R1328M, G587R, R672L, T345I, Y1622H, D1480N, P988S, P1096A, R351H, G689R, A2265V, Q662H, R1446C, R1446H, W1472R W Y Y, R1446H, W1472R R1446S, L1499Q, D1435N, R1446P, Y1450N, Y1482C, W1502R, Y1482N, Y1482D, L1499R, W1502C, W1472G, W1502L, I1431S, R1446C, I1431N, Y1503N, V1802M, T396K1778L, R1782V, E5503N, V1802M, T396K1778L, R1782V R1664C, T1260M, T950M, C1408Y, R424Q, R625H, R1081H, R601Q, P248L, M1798I, S1072F, P949L, A1824T, R1682H, R1428C, A206V, Y1167C, A2144V, V1650I, A2591, S136M, R1427W16341, T872, V E1243D, F1439L, R1319Q, R714C, E1012K, R1347W, D1481G, D1273N, A1944P, K1809R, E1247K, P2038L, G706R, P766L, P928S, R1800Q, V1371F, R714H, S945L, S1392Q, S945L, S32557T, R669W, R32557T R1602H, R519K, C1240Y, N645K, P107L, Y1973H, N2141K, S554F, R742L, Q963H, T862M, G21D, A698V, A533T, G2010E, A1510V, P907S, R1851H, Q2292R, Q11249H, K1498Q, N530S, K1498Q, N530S R1866C, P2285H, A1398V, M2192I, T1932M, Q1698L, G1699D, E1020G, N522S, P1889L, H2178Y, P2011S, I1455N, S2065N, K1269N, Q1928H, A259S, R2353W, Y1828C, N797K, P496L, R1378L, S791T, G1404S, Q1941L, L1451211S, Q1941L, L1451211R, S2065N, L1451211R, S2065N, K1269N, Q1928H, A259S V992L, I678M, G252C, H1470L, Q1113H, Q102R, D2433G, E1099K, T1210A, L869F, T537P, V460F, E2404K, A787V, M1021I, P552L, L833V, E637K, P2331S, D1156M, T2066T, R1964C, A190 S767Y, E1459Q, E1452K, N374I, Q1879E, G2162R, E1400Q, F1540S, S893W, E1501K, H1351D, S479I, H1485Y, D1276H, Q2299K, E1626Q, T320I, Q1152E, S2377L, K1271T, R1433H, L1271T, R1433H, K1271T, R, A2419V, Y1125H, S1207F, E1088K, R1317K, V2149M, S139N, P975S, G1305D, R624C, T4668S, P1953S, S247F, S2361F, T1242S, V1429M, L33F, D1543V, S566F, R1341P, P2383L, S237704 L2198Q, S554F, P2352L, P2415L, G219V, P1489T, QP1257HS, P1488L, E548K, D1309N, V1371D, E1400K, E1576D, A1739V, Q610H, L161M, W1545L, C1199F, H2384R, G786P, H2384R, E5281963D A924T, L1181R, F22L, V1818M, P432S, Q21 03K, V1704F, E371Q, D1420A, P2331L, R2195K, P1110L, V824M, D599N, G268R, P2187L, P2155S, S2345F, E996K, G591S, A2046V, Q2324K, M2391I, V1429A, G2132V, P1429A, G2132V P248S, P308S, S1030F, P957A, S646N, R1985L, G1418V, M481V, P543L, P2311L, A2170T, A924V, E1715K, D1263N, P1997L, P1951L, R1173G, P1991L, H17E12Y, S232V2L, H17E12Y2, L232V21374 M1625N, P1208S, H1738N, M1981I, Q1863R, L679F, W1745C, G2236E, G1753V, A1093V, V2056M, A476T, H1413P, V1722E, A924S, R1866L, R1926W, F1632V, K1870P, C398Y, G1870N, C398Y at least one missense mutation selected from the group consisting of S121I, G1411R, N1350I, T1332P, P1488T, D1480H and I1483S;
G572*, Q771*, Q497*, R1360*, R1173*, Q1073*, Q1796*, R1498*, R1103*, R1341*, Q1756*, Q887*, Q1856*, S985*, E349*, R1672*, Q1928*, Y1230*, S1065*, Q2235*, Y1726*, R440*, Y659*, E1243*, Q719*, E1205*, R1392*, R386*, L243*, Q540*, R424*, Q517*, E1000*, Q1148*, S547*, Q357*, R370*, E1626*, S381*, Q2103*, S331*, Q1852*, Y1828*, K68*, Q963*, Q356*, R2004*, E1559*, Q203*, Q919*, K1051*, Q1041*, Q1941*, Y1460*, S1030_K1033delins* 및 W1158*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;G572*, Q771*, Q497*, R1360*, R1173*, Q1073*, Q1796*, R1498*, R1103*, R1341*, Q1756*, Q887*, Q1856*, S985*, E349*, R1672*, Q1928* , Y1230*, S1065*, Q2235*, Y1726*, R440*, Y659*, E1243*, Q719*, E1205*, R1392*, R386*, L243*, Q540*, R424*, Q517*, E1000*, Q1148 *, S547*, Q357*, R370*, E1626*, S381*, Q2103*, S331*, Q1852*, Y1828*, K68*, Q963*, Q356*, R2004*, E1559*, Q203*, Q919*, at least one nonsense mutation selected from the group consisting of K1051*, Q1041*, Q1941*, Y1460*, S1030_K1033delins* and W1158*;
I1084Sfs*15, P1946Hfs*30, F1523Sfs*27, H2384Tfs*12, T1574Pfs*61, S801Qfs*29, L524Wfs*6, Q232Rfs*12, P1423Lfs*36, S1065*, P928Rfs*70, L545Ffs*16, N1612Tfs*23, S893Pfs*27, S1382Yfs*2, L243*, H408Ifs*26, C1444Hfs*6, K1505Rfs*45, E1054Dfs*4, G1815Pfs*149, E72Afs*10, V2012Sfs*28, N2181Kfs*5, E371Kfs*53, Y659Tfs*7, E1061Rfs*4, K1051Rfs*5, V1057*, L1692Rfs*50, C1178Afs*72, G587Kfs*19, C1311*, M784Ifs*17, T163Afs*13, I1493Yfs*57, E594Dfs*11, C1783Afs*16 및 I1189Lfs*61로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;I1084Sfs*15, P1946Hfs*30, F1523Sfs*27, H2384Tfs*12, T1574Pfs*61, S801Qfs*29, L524Wfs*6, Q232Rfs*12, P1423Lfs*36, S1065*, P928Rfs*2316, L516F , S893Pfs*27, S1382Yfs*2, L243*, H408Ifs*26, C1444Hfs*6, K1505Rfs*45, E1054Dfs*4, G1815Pfs*149, E72Afs*10, V2012Sfs*28, N2181Kfs*5, E371Kfs*53, E371Kfs*53 7, E1061Rfs*4, K1051Rfs*5, V1057*, L1692Rfs*50, C1178Afs*72, G587Kfs*19, C1311*, M784Ifs*17, T163Afs*13, I1493Yfs*57, E594Dfs*11, C1783Afs*16, and I1783Afs*16 at least one frame shift delete mutation selected from the group consisting of 61;
L1346Ffs*8, I1084Nfs*3, Q1209Tfs*25, P1947Tfs*19, S1172Qfs*7, P2077Afs*264, H397Afs*30, S1737Rfs*8, G77Afs*9 및 S1598Kfs*19로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 삽입(frame shift insert) 돌연변이;At least one frame shift selected from the group consisting of L1346Ffs*8, I1084Nfs*3, Q1209Tfs*25, P1947Tfs*19, S1172Qfs*7, P2077Afs*264, H397Afs*30, S1737Rfs*8, G77Afs*9 and S1598Kfs*19. frame shift insert mutation;
M2115_G2120dup인 인프레임 삽입(inframe insert) 돌연변이;M2115_G2120dup, an inframe insert mutation;
S1680del K1588del 및 Q2216del로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 결실(inframe delete) 돌연변이;at least one inframe delete mutation selected from the group consisting of S1680del K1588del and Q2216del;
X1203_splice, X1305_splice, X406_splice, X1021_splice, X1427_splice, X961_splice, X1465_splice, X1084_splice, X29_splice, X705_splice, X1378_splice, X406_splice, X1305_splice, X1576_splice, X266_splice, X525_splice 및 X406_splice X1465_splice로 이루어진 군으로부터 선택되는 적어도 하나의 적어도 하나의 스플라이스(splice) 돌연변이; 및X1203_splice, X1305_splice, X406_splice, X1021_splice, X1427_splice, X961_splice, X1465_splice, X1084_splice, X29_splice, X705_splice, X1378_splice, X406_splice, X1305_splice, X1576_splice, X266_splice, X525_splice 및 X406_splice X1465_splice로 이루어진 군으로부터 선택되는 적어도 하나의 적어도 하나의 스플라이스(splice ) mutations; and
CREBBP-CRAMP1L fusion, CREBP-NARFL fusion, TRAP1-CREBBP fusion, CREBBP-intragenic, CREBBP-TRAP1 fusion, CREBBP-TIGD7 fusion, TSG1-CREBBP fusion, CREBBP-SRRM2 fusion, CREBBP-TBL3 fusion 및 CREBBP-DNASE1 fusion로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.CREBBP-CRAMP1L fusion, CREBP-NARFL fusion, TRAP1-CREBBP fusion, CREBBP-intragenic, CREBBP-TRAP1 fusion, CREBBP-TIGD7 fusion, TSG1-CREBBP fusion, CREBBP-SRRM2 fusion, CREBBP-TBL3 fusion and CREBBP-DNASE1 fusion consisting of at least one fusion mutation selected from the group.
본 발명의 다른 구현예로, ESR1을 암호화하는 유전자의 돌연변이는 서열번호 2가 암호화하는 하기 돌연변이로 이루어진 군에서 선택된 하나 이상일 수 있다.In another embodiment of the present invention, the mutation of the gene encoding ESR1 may be one or more selected from the group consisting of the following mutations encoded by SEQ ID NO:2.
S554N, D538G, N290K, Y537S, D538G, S433P, G77D, P38L, Y537C, Y537N, D538G, E380Q, L536Q, L536R, Y537S, S463P, L536H, L536P, Y537D, S463P, R211I, R548C, S341L, T311M, V533M, V392I, D218N, Q159L, R37L, R243C, R394H, R477Q, R28H, R243H, A361V, E56K, E330K, L370F, H488Y, N519S, T585M, T228A, Q506H, R259Q, M109T, A350E, R269H, S576L, A87T, S294R, D564Y, A307P, L410S, Y54C, K206T, L26M, G57C, C237Y, P113L, Q314K, R158C, R157Q, E203V, S338R, D369Y, A65V, D258Y, K32Q, A361E, A361T, R269C, G344D, P333T, R548H, V478L, A207T, P25T, D374Y, N532K, S432L, A546D, E542G, V534E, G442R, V418E, F461V, L466Q, G442R, S329Y, Y80H, G160D, M421V, K252N, L540Q, L403R, T224I, E385D, R277S, R151K, G590S, L117Q, M437I, G57S, G284E, D564N, N304H, H398P, R193G, K48N, P324S, A593V, A288T, T4A, R211S, R260K, L15V, K449R, P325S, R363K, E470K, P147Q, V478I 및 R183C로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;S554N, D538G, N290K, Y537S, D538G, S433P, G77D, P38L, Y537C, Y537N, D538G, E380Q, L536Q, L536R, Y537S, S463P, L536H, L536P, Y537D, S463P, V2153I, R463P, V V392I, D218N, Q159L, R37L, R243C, R394H, R477Q, R28H, R243H, A361V, E56K, E330K, L370F, H488Y, N519S, T585M, T228A, Q506H, R259Q, M109T, A350E, R269H, S576R, A269H, S576R D564Y, A307P, L410S, Y54C, K206T, L26M, G57C, C237Y, P113L, Q314K, R158C, R157Q, E203V, S338R, D369Y, A65V, D258Y, K32Q, A361E, A361T, R269C, G344D, P333T, R548H, V4 A207T, P25T, D374Y, N532K, S432L, A546D, E542G, V534E, G442R, V418E, F461V, L466Q, G442R, S329Y, Y80H, G160D, M421V, K252N, L540Q, L403R, R277S, E385D, T224I, G L117Q, M437I, G57S, G284E, D564N, N304H, H398P, R193G, K48N, P324S, A593V, A288T, T4A, R211S, R260K, L15V, K4349R, P325S, R363K, E470K, P147Q, V478I and R18349C at least one missense mutation;
Y60*, C245*, E444*, R256* 및 K401*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of Y60*, C245*, E444*, R256* and K401*;
L536Qfs*2, P99Hfs*10, I326Yfs*17, P99Hfs*10, G96Vfs*13 및 *594fs*로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;at least one frame shift delete mutation selected from the group consisting of L536Qfs*2, P99Hfs*10, I326Yfs*17, P99Hfs*10, G96Vfs*13 and *594fs*;
L100Tfs*57, G521Rfs*18 및 E275Gfs*5로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 삽입(frame shift insert) 돌연변이;at least one frame shift insert mutation selected from the group consisting of L100Tfs*57, G521Rfs*18 and E275Gfs*5;
D538_L539insHD 및 Q500dup로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 삽입(inframe insert) 돌연변이;at least one inframe insert mutation selected from the group consisting of D538_L539insHD and Q500dup;
V422del 및 Y328_S329del로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 결실(inframe delete) 돌연변이; 및at least one inframe delete mutation selected from the group consisting of V422del and Y328_S329del; and
TACR1-ESR1 fusion, ESR1-NCOA3 fusion 및 ESR1-C6orf97 fusion 로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.At least one fusion mutation selected from the group consisting of TACR1-ESR1 fusion, ESR1-NCOA3 fusion and ESR1-C6orf97 fusion.
본 발명의 또 다른 구현예로, GATA3을 암호화하는 유전자의 돌연변이는 서열번호 3이 암호화하는 하기 돌연변이로 이루어진 군에서 선택된 하나 이상일 수 있다.In another embodiment of the present invention, the mutation of the gene encoding GATA3 may be one or more selected from the group consisting of the following mutations encoded by SEQ ID NO:3.
N331I, S175W, Y229H, C266S, M293K, R364S, R364G, R364T, R298W, P421L, M356V, G248R, E359K, T420M, S118F, T418M, S407L, A146T, S137L, G100S, P223L, G128W, S426F, R305Q, E262V, L347R, R366Q, R305L, P148L, S142L, S402F, P158L, P425I, R9H, H281R, V132I, S369Y, P148T, K387N, G342W, T279M, L347I, S172L, L114I, S213L, A286T, P163Q, G241F, R311S, P95L, K358N, K292E, P98T, S82R, G232R, S82I, G143E, C287F, R275W, R9C, S93F, M356I, V337D, S121F, C183R, G278D, Q296K, L190P, S370R, A173T, L130H, S175L, S372F, P134S, S397Y, G99S, S243Y, A310T, Q362R, N285K, D6H, A207D, P111S, S389I, G55C, S238R, W328C, T215I, H13R, L428Q, S139F, P424S, P111H, T108I, P299L, S230N, A441D, T71M, D335E, D335Y, A176G, P135T 및 P95H로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;N331I, S175W, Y229H, C266S, M293K, R364S, R364G, R364T, R298W, P421L, M356V, G248R, E359K, T420M, S118F, T418M, S407L, A146T, S137L, G100S, P223L, G128W, S4 L347R, R366Q, R305L, P148L, S142L, S402F, P158L, P425I, R9H, H281R, V132I, S369Y, P148T, K387N, G342W, T279M, L347I, S172L, L114I, S213L, A286T, P163Q, G241F, R311S, P148T K358N, K292E, P98T, S82R, G232R, S82I, G143E, C287F, R275W, R9C, S93F, M356I, V337D, S121F, C183R, G278D, Q296K, L190P, S370R, A173T, L130H, S175L, S372F, P134S, S372F, P134S, S397Y G99S, S243Y, A310T, Q362R, N285K, D6H, A207D, P111S, S389I, G55C, S238R, W328C, T215I, H13R, L428Q, S139F, P424S, P111H, T108I, P299L, S230N, A441D, T71M, D335E, T335M at least one missense mutation selected from the group consisting of A176G, P135T and P95H;
Q73*, R366*, R390*, K377* 및 S381*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of Q73*, R366*, R390*, K377* and S381*;
E359Afs*44, S407Afs*99, S237Afs*28, V378Cfs*26, P135Rfs*60, D335Pfs*16, P408Lfs*98, R329Gfs*17, G246Afs*19, L396Qfs*109, H123Pfs*69, A394Lfs*110, S436Pfs*39, P408Qfs*97, T418Afs*86, P432Tfs*74, G443Vfs*32, P408Qfs*97, M438Wfs*37, T355Qfs*97, F430Sfs*38, G431Tfs*41, T355*, L416Pfs*83, S437Rfs*38, L396Hfs*107, S390Rfs*112, A441Pfs*34, P424Rfs*51, K387Rfs*17, C320Wfs*18, R330Mfs*20, N331Gfs*17 및 C284Afs*10로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;E359Afs*44, S407Afs*99, S237Afs*28, V378Cfs*26, P135Rfs*60, D335Pfs*16, P408Lfs*98, R329Gfs*17, G246Afs*19, L396Qfs*109, H123Pfs*69, A394436Pfs*110, A394436Pfs* 39, P408Qfs*97, T418Afs*86, P432Tfs*74, G443Vfs*32, P408Qfs*97, M438Wfs*37, T355Qfs*97, F430Sfs*38, G431Tfs*41, T355*, L416Pfs*83, S437Rfs*38, L396RfsHfs At least one frame shift delete selected from the group consisting of *107, S390Rfs*112, A441Pfs*34, P424Rfs*51, K387Rfs*17, C320Wfs*18, R330Mfs*20, N331Gfs*17 and C284Afs*10. ) mutations;
A441Hfs*44, D335Gfs*17, R330Efs*22, H434Pfs*42, S426Yfs*50, P408Afs*99, D335Gfs*17, P408Afs*99, G431Wfs*76, H434Pfs*73, D335Gfs*21, S426Ifs*81, P408Afs*99, S436Lfs*71, G334Wfs*18, C320Lfs*32, S237Qfs*66, S237Qfs*66, S401Vfs*106, S413Qfs*94, P435Tfs*41, M422Dfs*85, V47Gfs*6, *444Lfs*63, A441Rfs*66, N331Efs*21, S401Ffs*106, S426Afs*82, G314Rfs*38, H405Efs*103, N319Efs*33, T315Kfs*37, R330Nfs*24, H434Tfs*42, R69Qfs*234, C338Lfs*14, R330Efs*22, T417Dfs*90, M356Nfs*15, T440Sfs*68, A332Cfs*20, T332Dfs*30, Y344Sfs*12, N333Kfs*19, G443Pfs*34, P419Afs*88, F430Lfs*77, S402Pfs*3, P435Rfs*42, M422Dfs*85, S404Hfs*107, M442Hfs*65, N351Kfs*20, V337Gfs*21, H411Pfs*96, D335Vfs*35, T332Rfs*34, I361Rfs*11 및 A313Sfs*39로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 삽입(frame shift insert) 돌연변이;A441Hfs*44, D335Gfs*17, R330Efs*22, H434Pfs*42, S426Yfs*50, P408Afs*99, D335Gfs*17, P408Afs*99, G431Wfs*76, H434Pfs*73, D335Gfs*81, S426AIf 99, S436Lfs*71, G334Wfs*18, C320Lfs*32, S237Qfs*66, S237Qfs*66, S401Vfs*106, S413Qfs*94, P435Tfs*41, M422Dfs*85, V47Gfs*6, *444Lfs*63, A441Rfs*66 , N331Efs*21, S401Ffs*106, S426Afs*82, G314Rfs*38, H405Efs*103, N319Efs*33, T315Kfs*37, R330Nfs*24, H434Tfs*42, R69Qfs*234, C338Lfs*14, R330E4 *90, M356Nfs*15, T440Sfs*68, A332Cfs*20, T332Dfs*30, Y344Sfs*12, N333Kfs*19, G443Pfs*34, P419Afs*88, F430Lfs*77, S402Pfs*3, P435Rfs*42, M422Dfs*85 , S404Hfs*107, M442Hfs*65, N351Kfs*20, V337Gfs*21, H411Pfs*96, D335Vfs*35, T332Rfs*34, I361Rfs*11 and A313Sfs*39. shift insert) mutation;
T221delinsPACCELLYVPYVL인 인프레임 삽입(inframe insert) 돌연변이;an inframe insert mutation that is T221delinsPACCELLYVPYVL;
K358del, Y345del 및 M356_K387del로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 결실(inframe delete) 돌연변이;at least one inframe delete mutation selected from the group consisting of K358del, Y345del and M356_K387del;
X349_splice 및 X350_splice로 이루어진 군으로부터 선택되는 적어도 하나의 스플라이스(splice) 돌연변이; 및at least one splice mutation selected from the group consisting of X349_splice and X350_splice; and
GATA3-intragenic 및 LOC100128811-GATA3 fusion로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.At least one fusion mutation selected from the group consisting of GATA3-intragenic and LOC100128811-GATA3 fusion.
본 발명의 일구현예로, H3F3B를 암호화하는 유전자의 돌연변이는 서열번호 4가 암호화하는 하기 돌연변이로 이루어진 군에서 선택된 하나 이상일 수 있다.In one embodiment of the present invention, the mutation of the gene encoding H3F3B may be one or more selected from the group consisting of the following mutations encoded by SEQ ID NO: 4.
E106K, V47G, D78N, F105L, D107N, E106K, G13R, K5M, R3G, E98K, S32C, Q69K, R18L, A25V, R9S, Q6P, I78T 및 Q6H로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;at least one missense mutation selected from the group consisting of E106K, V47G, D78N, F105L, D107N, E106K, G13R, K5M, R3G, E98K, S32C, Q69K, R18L, A25V, R9S, Q6P, I78T and Q6H;
E60*, E98* 및 R50*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of E60*, E98* and R50*;
R135Sfs*12, F105Kfs*33 및 A2Pfs*35로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;at least one frame shift delete mutation selected from the group consisting of R135Sfs*12, F105Kfs*33 and A2Pfs*35;
Q94Afs*4인 프레임 시프트 삽입(frame shift insert) 돌연변이; 및Q94Afs*4, a frame shift insert mutation; and
X37_splice인 스플라이스(splice) 돌연변이.A splice mutation that is X37_splice.
본 발명의 일구현예로, MYD88을 암호화하는 유전자의 돌연변이는 서열번호 5가 암호화하는 하기 돌연변이로 이루어진 군에서 선택된 하나 이상일 수 있다.In one embodiment of the present invention, the mutation of the gene encoding MYD88 may be one or more selected from the group consisting of the following mutations encoded by SEQ ID NO: 5.
K275T, L265P, E139K, S243N, S219C, R301C, R5C, A13V, D184N, M67V, V27A, D288N, P19S, E70K, R301H, S296C, T84A, Y240C, P292T, I130M, T61I, G96D, Q262E, P83S, P11L, P9L, R41P, R94H 및 K271T로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;K275T, L265P, E139K, S243N, S219C, R301C, R5C, A13V, D184N, M67V, V27A, D288N, P19S, E70K, R301H, S296C, T84A, Y240C, P292T, I130M, T61I, G96D, Q262E, P83S, P11L, P83S at least one missense mutation selected from the group consisting of P9L, R41P, R94H and K271T;
Q159*, Q189* 및 E172*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of Q159*, Q189* and E172*;
R101Afs*19인 프레임 시프트 결실(frame shift delete) 돌연변이;a frame shift delete mutation that is R101Afs*19;
X228_splice인 스플라이스(splice) 돌연변이; 및a splice mutation that is X228_splice; and
MYD88-ACAA1 fusion, MYD88-CTDSPL fusion, OXSR1-MYD88 fusion 및 MYD88-VILL fusion로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.At least one fusion mutation selected from the group consisting of MYD88-ACAA1 fusion, MYD88-CTDSPL fusion, OXSR1-MYD88 fusion and MYD88-VILL fusion.
본 발명에서 발굴한 돌연변이 유전자인 CREBBP, ESR1, GATA3, H3F3B 및 MYD88로 구성된 유전자 군에서 선택되는 적어도 하나의 유전자의 돌연변이와 고형암 환자의 전이기간이 연관성이 있으므로, 상기 유전자의 돌연변이 여부를 확인함으로써 고형암 환자의 전이기간에 따른 고형암 치료 효과의 차이 및 생존율 차이를 예측할 수 있다.Since the mutation of at least one gene selected from the gene group consisting of the mutant genes discovered in the present invention, CREBBP, ESR1, GATA3, H3F3B and MYD88, is correlated with the metastasis period of solid cancer patients, solid cancer It is possible to predict the difference in the treatment effect and survival rate of solid cancer according to the metastasis period of the patient.
단, 본 발명의 효과는 상기 효과로 한정되는 것은 아니며, 본 발명의 상세한 설명 또는 청구범위에 기재된 발명의 구성으로부터 추론 가능한 모든 효과를 포함하는 것으로 이해되어야 한다.However, the effect of the present invention is not limited to the above effect, and it should be understood to include all effects that can be inferred from the configuration of the invention described in the detailed description or claims of the present invention.
도 1은 전이기간 그룹 I, II, Ⅲ 및 IV간 비교분석을 통해 확인된 63개(도 1a 내지 1c)의 전이기간 특이적 돌연변이 유전자이다.1 is a metastatic period-specific mutant gene of 63 ( FIGS. 1a to 1c ) identified through comparative analysis between transition period groups I, II, III and IV.
도 2는 전이기간 그룹 I 및 II + III+ Ⅳ 간 비교분석을 통해 확인된 90개(도 2a 내지 2e)의 전이기간 특이적 돌연변이 유전자이다.2 is a metastasis period-specific mutant gene of 90 ( FIGS. 2a to 2e ) identified through comparative analysis between transition period groups I and II + III+ IV.
도 3은 전이기간 그룹 I + II 및 III + IV간 비교분석을 통해 확인된 33개(도 3a 내지 3b)의 전이기간 특이적 돌연변이 유전자이다.FIG. 3 is a metastatic period-specific mutant gene of 33 ( FIGS. 3a to 3b ) identified through comparative analysis between transition period groups I + II and III + IV.
도 4 내지 도 87은 전이기간 특이적인 각각의 유전자에 대하여, 해당 유전자에 돌연변이가 있는 고형암 환자(적색)와 해당 유전자에 돌연변이가 없는 고형암 환자(청색)의 총 생존율 또는 무병 생존율에 관한 그래프이다.4 to 87 are graphs relating to the total survival rate or disease-free survival rate of a patient with solid cancer having a mutation in the gene (red) and a patient with solid cancer without a mutation in the gene (blue) for each gene specific to the metastasis period.
본 발명자들은 고형암 환자의 전이기간 차이에 기반하여 고형암의 감별 진단, 치료전략 결정 또는 예후 판정을 위한 전이기간 특이적 마커를 발굴하기 위하여, The Cancer Genome Atlas(TCGA)에 보고된 Prostate adenocarcinoma(PRAD) 데이터를 이용한 기계학습을 시행하였다. 그 결과 157개의 고형암에 대한 전이기간 특이적 돌연변이 유전자를 발견하였고, MSKCC(10945 samples 제공)의 데이터와 중첩되는 유전자를 선발한 결과, 5개의 고형암 전이기간 특이적 마커(CREBBP, ESR1, GATA3, H3F3B 및 MYD88)를 발굴하였다.Prostate adenocarcinoma (PRAD) reported to The Cancer Genome Atlas (TCGA) in order to discover a metastasis period-specific marker for differential diagnosis, treatment strategy determination, or prognosis of solid cancer based on the difference in metastasis period of solid cancer patients. Machine learning using data was implemented. As a result, metastasis period-specific mutant genes for 157 solid cancers were found, and as a result of selecting genes that overlap with the data of MSKCC (provided by 10945 samples), five solid cancer metastasis period-specific markers (CREBBP, ESR1, GATA3, H3F3B) were selected. and MYD88) were discovered.
이하, 본 발명을 상세히 설명한다.Hereinafter, the present invention will be described in detail.
1. 고형암 환자에서 전이기간 특이적 돌연변이 유전자1. Metastasis period-specific mutant gene in solid cancer patients
본 발명의 일 측면은 CREBBP(CREB Binding Protein), ESR1(Estrogen Receptor 1), GATA3(GATA Binding Protein 3), H3F3B(H3.3 Histone B) 및 MYD88(MYD88 Innate Immune Signal Transduction Adaptor)로 이루어진 군으로부터 선택되는 하나 이상을 암호화하는 유전자의 돌연변이를 포함하는, 고형암 환자의 전이기간에 따른 치료 효과 예측 또는 예후 진단용 마커 조성물을 제공하는 것이다.One aspect of the present invention is from the group consisting of CREBBP (CREB Binding Protein), ESR1 (Estrogen Receptor 1), GATA3 (GATA Binding Protein 3), H3F3B (H3.3 Histone B) and MYD88 (MYD88 Innate Immune Signal Transduction Adapter). To provide a marker composition for predicting treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient, comprising a mutation of a gene encoding one or more selected.
상기 유전자들의 Gene bank accession number는 각각 CREBBP(Gene bank accession number: NM_004380), ESR1(Gene bank accession number: NM_000125), GATA3(Gene bank accession number: NM_001002295), H3F3B(Gene bank accession number: NM_005324), MYD88(Gene bank accession number: NM_001172567)일 수 있다.Gene bank accession numbers of the genes are CREBBP (Gene bank accession number: NM_004380), ESR1 (Gene bank accession number: NM_000125), GATA3 (Gene bank accession number: NM_001002295), H3F3B (Gene bank accession number: NM_005324), MYD88, respectively (Gene bank accession number: NM_001172567).
본 발명에 있어서, 상기 CREBBP를 암호화하는 유전자의 돌연변이는 서열번호 1 이 암호화하는 하기 돌연변이로 이루어진 군에서 선택된 하나 이상일 수 있다.In the present invention, the mutation of the gene encoding CREBBP may be one or more selected from the group consisting of the following mutations encoded by SEQ ID NO: 1.
Y2189S, Q1756E, S2394F, L829F, S977L, A259T, R1328M, G587R, R672L, T345I, Y1622H, D1480N, P988S, P1096A, R351H, G689R, A2265V, Q662H, R1446C, R1446H, W1502C, Y1450D, D1435G, W1472R, Y1503H, R1446S, L1499Q, D1435N, R1446P, Y1450N, Y1482C, W1502R, Y1482N, Y1482D, L1499R, W1502C, W1472G, W1502L, I1431S, R1446C, I1431N, Y1503N, V1802M, S1778L, T396K, A1782V, E1550Q, S2372L, T1688M, R2104C, R1664C, T1260M, T950M, C1408Y, R424Q, R625H, R1081H, R601Q, P248L, M1798I, S1072F, P949L, A1824T, R1682H, R1428C, A206V, Y1167C, A2144V, V1650I, A259T, V1634M, T872M, R1427W, S1136Y, D1481N, E1243D, F1439L, R1319Q, R714C, E1012K, R1347W, D1481G, D1273N, A1944P, K1809R, E1247K, P2038L, G706R, P766L, P928S, R1800Q, V1371F, R714H, S945L, A557T, R669W, R1392Q, S71L, S32L, G896R, R1602H, R519K, C1240Y, N645K, P107L, Y1973H, N2141K, S554F, R742L, Q963H, T862M, G21D, A698V, A533T, G2010E, A1510V, P907S, R1851H, Q2292R, Q249H, R1498Q, N530S, S1923R, G1145W, K1139T, R1866C, P2285H, A1398V, M2192I, T1932M, Q1698L, G1699D, E1020G, N522S, P1889L, H2178Y, P2011S, I1455N, S2065N, K1269N, Q1928H, A259S, R2353W, Y1828C, N797K, P496L, R1378L, S791T, G1404S, Q1941L, T959A, S2076L, H1451R, Q887K, L1211S, R1800L, V992L, I678M, G252C, H1470L, Q1113H, Q102R, D2433G, E1099K, T1210A, L869F, T537P, V460F, E2404K, A787V, M1021I, P552L, L833V, E637K, P2331S, V89M, A2066T, R1964C, E1000K, D1156N, T1902M, S767Y, E1459Q, E1452K, N374I, Q1879E, G2162R, E1400Q, F1540S, S893W, E1501K, H1351D, S479I, H1485Y, D1276H, Q2299K, E1626Q, T320I, Q1152E, S2377L, K1271R, R1960Q, E1528K, Y1433H, L1329R, A2392T, A2419V, Y1125H, S1207F, E1088K, R1317K, V2149M, S139N, P975S, G1305D, R624C, T4668S, P1953S, S247F, S2361F, T1242S, V1429M, L33F, D1543V, S566F, R1341P, P2383L, S2372W, D2282H, Y1433N, P704L, L2198Q, S554F, P2352L, P2415L, G219V, P1489T, QP1257HS, P1488L, E548K, D1309N, V1371D, E1400K, E1576D, A1739V, Q610H, L161M, W1545L, C1199F, H2384R, E1963D, V2002M, Q786P, Q887E, G822A, P528L, A924T, L1181R, F22L, V1818M, P432S, Q2103K, V1704F, E371Q, D1420A, P2331L, R2195K, P1110L, V824M, D599N, G268R, P2187L, P2155S, S2345F, E996K, G591S, A2046V, Q2324K, M2391I, V1429A, G2132V, G57E, R1441Q, P173L, T586I, Q842H, P248S, P308S, S1030F, P957A, S646N, R1985L, G1418V, M481V, P543L, P2311L, A2170T, A924V, E1715K, D1263N, P1997L, P1951L, R1173G, P1991L, E1285K, G1374E, S2322L, L353V, G2306V, H1712Y, L2171F, M1625N, P1208S, H1738N, M1981I, Q1863R, L679F, W1745C, G2236E, G1753V, A1093V, V2056M, A476T, H1413P, V1722E, A924S, R1866L, R1926W, F1632V, A1870P, C398Y, L2254F, E2191K, K1269N, R218T, G214V, S121I, G1411R, N1350I, T1332P, P1488T, D1480H 및 I1483S로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;Y2189S, Q1756E, S2394F, L829F, S977L, A259T, R1328M, G587R, R672L, T345I, Y1622H, D1480N, P988S, P1096A, R351H, G689R, A2265V, Q662H, R1446C, R1446H, W1472R W Y Y, R1446H, W1472R R1446S, L1499Q, D1435N, R1446P, Y1450N, Y1482C, W1502R, Y1482N, Y1482D, L1499R, W1502C, W1472G, W1502L, I1431S, R1446C, I1431N, Y1503N, V1802M, T396K1778L, R1782V, E5503N, V1802M, T396K1778L, R1782V R1664C, T1260M, T950M, C1408Y, R424Q, R625H, R1081H, R601Q, P248L, M1798I, S1072F, P949L, A1824T, R1682H, R1428C, A206V, Y1167C, A2144V, V1650I, A2591, S136M, R1427W16341, T872, V E1243D, F1439L, R1319Q, R714C, E1012K, R1347W, D1481G, D1273N, A1944P, K1809R, E1247K, P2038L, G706R, P766L, P928S, R1800Q, V1371F, R714H, S945L, S1392Q, S945L, S32557T, R669W, R32557T R1602H, R519K, C1240Y, N645K, P107L, Y1973H, N2141K, S554F, R742L, Q963H, T862M, G21D, A698V, A533T, G2010E, A1510V, P907S, R1851H, Q2292R, Q11249H, K1498Q, N530S, K1498Q, N530S R1866C, P2285H, A1398V, M2192I, T1932M, Q1698L, G1699D, E1020G, N522S, P1889L, H2178Y, P2011S, I1455N, S2065N, K1269N, Q1928H, A259S, R2353W, Y1828C, N797K, P496L, R1378L, S791T, G1404S, Q1941L, L1451211S, Q1941L, L1451211R, S2065N, L1451211R, S2065N, K1269N, Q1928H, A259S V992L, I678M, G252C, H1470L, Q1113H, Q102R, D2433G, E1099K, T1210A, L869F, T537P, V460F, E2404K, A787V, M1021I, P552L, L833V, E637K, P2331S, D1156M, T2066T, R1964C, A190 S767Y, E1459Q, E1452K, N374I, Q1879E, G2162R, E1400Q, F1540S, S893W, E1501K, H1351D, S479I, H1485Y, D1276H, Q2299K, E1626Q, T320I, Q1152E, S2377L, K1271T, R1433H, L1271T, R1433H, K1271T, R, A2419V, Y1125H, S1207F, E1088K, R1317K, V2149M, S139N, P975S, G1305D, R624C, T4668S, P1953S, S247F, S2361F, T1242S, V1429M, L33F, D1543V, S566F, R1341P, P2383L, S237704 L2198Q, S554F, P2352L, P2415L, G219V, P1489T, QP1257HS, P1488L, E548K, D1309N, V1371D, E1400K, E1576D, A1739V, Q610H, L161M, W1545L, C1199F, H2384R, G786P, H2384R, E5281963D A924T, L1181R, F22L, V1818M, P432S, Q21 03K, V1704F, E371Q, D1420A, P2331L, R2195K, P1110L, V824M, D599N, G268R, P2187L, P2155S, S2345F, E996K, G591S, A2046V, Q2324K, M2391I, V1429A, G2132V, P1429A, G2132V P248S, P308S, S1030F, P957A, S646N, R1985L, G1418V, M481V, P543L, P2311L, A2170T, A924V, E1715K, D1263N, P1997L, P1951L, R1173G, P1991L, H17E12Y, S232V2L, H17E12Y2, L232V21374 M1625N, P1208S, H1738N, M1981I, Q1863R, L679F, W1745C, G2236E, G1753V, A1093V, V2056M, A476T, H1413P, V1722E, A924S, R1866L, R1926W, F1632V, K1870P, C398Y, G1870N, C398Y at least one missense mutation selected from the group consisting of S121I, G1411R, N1350I, T1332P, P1488T, D1480H and I1483S;
G572*, Q771*, Q497*, R1360*, R1173*, Q1073*, Q1796*, R1498*, R1103*, R1341*, Q1756*, Q887*, Q1856*, S985*, E349*, R1672*, Q1928*, Y1230*, S1065*, Q2235*, Y1726*, R440*, Y659*, E1243*, Q719*, E1205*, R1392*, R386*, L243*, Q540*, R424*, Q517*, E1000*, Q1148*, S547*, Q357*, R370*, E1626*, S381*, Q2103*, S331*, Q1852*, Y1828*, K68*, Q963*, Q356*, R2004*, E1559*, Q203*, Q919*, K1051*, Q1041*, Q1941*, Y1460*, S1030_K1033delins* 및 W1158*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;G572*, Q771*, Q497*, R1360*, R1173*, Q1073*, Q1796*, R1498*, R1103*, R1341*, Q1756*, Q887*, Q1856*, S985*, E349*, R1672*, Q1928* , Y1230*, S1065*, Q2235*, Y1726*, R440*, Y659*, E1243*, Q719*, E1205*, R1392*, R386*, L243*, Q540*, R424*, Q517*, E1000*, Q1148 *, S547*, Q357*, R370*, E1626*, S381*, Q2103*, S331*, Q1852*, Y1828*, K68*, Q963*, Q356*, R2004*, E1559*, Q203*, Q919*, at least one nonsense mutation selected from the group consisting of K1051*, Q1041*, Q1941*, Y1460*, S1030_K1033delins* and W1158*;
I1084Sfs*15, P1946Hfs*30, F1523Sfs*27, H2384Tfs*12, T1574Pfs*61, S801Qfs*29, L524Wfs*6, Q232Rfs*12, P1423Lfs*36, S1065*, P928Rfs*70, L545Ffs*16, N1612Tfs*23, S893Pfs*27, S1382Yfs*2, L243*, H408Ifs*26, C1444Hfs*6, K1505Rfs*45, E1054Dfs*4, G1815Pfs*149, E72Afs*10, V2012Sfs*28, N2181Kfs*5, E371Kfs*53, Y659Tfs*7, E1061Rfs*4, K1051Rfs*5, V1057*, L1692Rfs*50, C1178Afs*72, G587Kfs*19, C1311*, M784Ifs*17, T163Afs*13, I1493Yfs*57, E594Dfs*11, C1783Afs*16 및 I1189Lfs*61로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;I1084Sfs*15, P1946Hfs*30, F1523Sfs*27, H2384Tfs*12, T1574Pfs*61, S801Qfs*29, L524Wfs*6, Q232Rfs*12, P1423Lfs*36, S1065*, P928Rfs*2316, L516F , S893Pfs*27, S1382Yfs*2, L243*, H408Ifs*26, C1444Hfs*6, K1505Rfs*45, E1054Dfs*4, G1815Pfs*149, E72Afs*10, V2012Sfs*28, N2181Kfs*5, E371Kfs*53, E371Kfs*53 7, E1061Rfs*4, K1051Rfs*5, V1057*, L1692Rfs*50, C1178Afs*72, G587Kfs*19, C1311*, M784Ifs*17, T163Afs*13, I1493Yfs*57, E594Dfs*11, C1783Afs*16, and I1783Afs*16 at least one frame shift delete mutation selected from the group consisting of 61;
L1346Ffs*8, I1084Nfs*3, Q1209Tfs*25, P1947Tfs*19, S1172Qfs*7, P2077Afs*264, H397Afs*30, S1737Rfs*8, G77Afs*9 및 S1598Kfs*19로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 삽입(frame shift insert) 돌연변이;At least one frame shift selected from the group consisting of L1346Ffs*8, I1084Nfs*3, Q1209Tfs*25, P1947Tfs*19, S1172Qfs*7, P2077Afs*264, H397Afs*30, S1737Rfs*8, G77Afs*9 and S1598Kfs*19. frame shift insert mutation;
M2115_G2120dup인 인프레임 삽입(inframe insert) 돌연변이;M2115_G2120dup, an inframe insert mutation;
S1680del K1588del 및 Q2216del로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 결실(inframe delete) 돌연변이;at least one inframe delete mutation selected from the group consisting of S1680del K1588del and Q2216del;
X1203_splice, X1305_splice, X406_splice, X1021_splice, X1427_splice, X961_splice, X1465_splice, X1084_splice, X29_splice, X705_splice, X1378_splice, X406_splice, X1305_splice, X1576_splice, X266_splice, X525_splice 및 X406_splice X1465_splice로 이루어진 군으로부터 선택되는 적어도 하나의 적어도 하나의 스플라이스(splice) 돌연변이; 및X1203_splice, X1305_splice, X406_splice, X1021_splice, X1427_splice, X961_splice, X1465_splice, X1084_splice, X29_splice, X705_splice, X1378_splice, X406_splice, X1305_splice, X1576_splice, X266_splice, X525_splice 및 X406_splice X1465_splice로 이루어진 군으로부터 선택되는 적어도 하나의 적어도 하나의 스플라이스(splice ) mutations; and
CREBBP-CRAMP1L fusion, CREBP-NARFL fusion, TRAP1-CREBBP fusion, CREBBP-intragenic, CREBBP-TRAP1 fusion, CREBBP-TIGD7 fusion, TSG1-CREBBP fusion, CREBBP-SRRM2 fusion, CREBBP-TBL3 fusion 및 CREBBP-DNASE1 fusion로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.CREBBP-CRAMP1L fusion, CREBP-NARFL fusion, TRAP1-CREBBP fusion, CREBBP-intragenic, CREBBP-TRAP1 fusion, CREBBP-TIGD7 fusion, TSG1-CREBBP fusion, CREBBP-SRRM2 fusion, CREBBP-TBL3 fusion and CREBBP-DNASE1 fusion consisting of at least one fusion mutation selected from the group.
본 발명에 있어서, 상기 ESR1을 암호화하는 유전자의 돌연변이는 서열번호 2가 암호화하는 아미노산 서열에서 하기 돌연변이로 이루어진 군에서 선택된 하나 이상일 수 있다.In the present invention, the mutation of the gene encoding ESR1 may be one or more selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 2.
S554N, D538G, N290K, Y537S, D538G, S433P, G77D, P38L, Y537C, Y537N, D538G, E380Q, L536Q, L536R, Y537S, S463P, L536H, L536P, Y537D, S463P, R211I, R548C, S341L, T311M, V533M, V392I, D218N, Q159L, R37L, R243C, R394H, R477Q, R28H, R243H, A361V, E56K, E330K, L370F, H488Y, N519S, T585M, T228A, Q506H, R259Q, M109T, A350E, R269H, S576L, A87T, S294R, D564Y, A307P, L410S, Y54C, K206T, L26M, G57C, C237Y, P113L, Q314K, R158C, R157Q, E203V, S338R, D369Y, A65V, D258Y, K32Q, A361E, A361T, R269C, G344D, P333T, R548H, V478L, A207T, P25T, D374Y, N532K, S432L, A546D, E542G, V534E, G442R, V418E, F461V, L466Q, G442R, S329Y, Y80H, G160D, M421V, K252N, L540Q, L403R, T224I, E385D, R277S, R151K, G590S, L117Q, M437I, G57S, G284E, D564N, N304H, H398P, R193G, K48N, P324S, A593V, A288T, T4A, R211S, R260K, L15V, K449R, P325S, R363K, E470K, P147Q, V478I 및 R183C로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;S554N, D538G, N290K, Y537S, D538G, S433P, G77D, P38L, Y537C, Y537N, D538G, E380Q, L536Q, L536R, Y537S, S463P, L536H, L536P, Y537D, S463P, V2153I, R463P, V V392I, D218N, Q159L, R37L, R243C, R394H, R477Q, R28H, R243H, A361V, E56K, E330K, L370F, H488Y, N519S, T585M, T228A, Q506H, R259Q, M109T, A350E, R269H, S576R, A269H, S576R D564Y, A307P, L410S, Y54C, K206T, L26M, G57C, C237Y, P113L, Q314K, R158C, R157Q, E203V, S338R, D369Y, A65V, D258Y, K32Q, A361E, A361T, R269C, G344D, P333T, R548H, V4 A207T, P25T, D374Y, N532K, S432L, A546D, E542G, V534E, G442R, V418E, F461V, L466Q, G442R, S329Y, Y80H, G160D, M421V, K252N, L540Q, L403R, R277S, E385D, T224I, G L117Q, M437I, G57S, G284E, D564N, N304H, H398P, R193G, K48N, P324S, A593V, A288T, T4A, R211S, R260K, L15V, K4349R, P325S, R363K, E470K, P147Q, V478I and R18349C at least one missense mutation;
Y60*, C245*, E444*, R256* 및 K401*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of Y60*, C245*, E444*, R256* and K401*;
L536Qfs*2, P99Hfs*10, I326Yfs*17, P99Hfs*10, G96Vfs*13 및 *594fs*로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;at least one frame shift delete mutation selected from the group consisting of L536Qfs*2, P99Hfs*10, I326Yfs*17, P99Hfs*10, G96Vfs*13 and *594fs*;
L100Tfs*57, G521Rfs*18 및 E275Gfs*5로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 삽입(frame shift insert) 돌연변이;at least one frame shift insert mutation selected from the group consisting of L100Tfs*57, G521Rfs*18 and E275Gfs*5;
D538_L539insHD 및 Q500dup로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 삽입(inframe insert) 돌연변이;at least one inframe insert mutation selected from the group consisting of D538_L539insHD and Q500dup;
V422del 및 Y328_S329del로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 결실(inframe delete) 돌연변이; 및at least one inframe delete mutation selected from the group consisting of V422del and Y328_S329del; and
TACR1-ESR1 fusion, ESR1-NCOA3 fusion 및 ESR1-C6orf97 fusion 로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.At least one fusion mutation selected from the group consisting of TACR1-ESR1 fusion, ESR1-NCOA3 fusion and ESR1-C6orf97 fusion.
본 발명에 있어서, 상기 GATA3을 암호화하는 유전자의 돌연변이는 서열번호 3이 암호화하는 아미노산 서열에서 하기 돌연변이로 이루어진 군에서 선택된 하나 이상일 수 있다.In the present invention, the mutation of the gene encoding GATA3 may be one or more selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 3.
N331I, S175W, Y229H, C266S, M293K, R364S, R364G, R364T, R298W, P421L, M356V, G248R, E359K, T420M, S118F, T418M, S407L, A146T, S137L, G100S, P223L, G128W, S426F, R305Q, E262V, L347R, R366Q, R305L, P148L, S142L, S402F, P158L, P425I, R9H, H281R, V132I, S369Y, P148T, K387N, G342W, T279M, L347I, S172L, L114I, S213L, A286T, P163Q, G241F, R311S, P95L, K358N, K292E, P98T, S82R, G232R, S82I, G143E, C287F, R275W, R9C, S93F, M356I, V337D, S121F, C183R, G278D, Q296K, L190P, S370R, A173T, L130H, S175L, S372F, P134S, S397Y, G99S, S243Y, A310T, Q362R, N285K, D6H, A207D, P111S, S389I, G55C, S238R, W328C, T215I, H13R, L428Q, S139F, P424S, P111H, T108I, P299L, S230N, A441D, T71M, D335E, D335Y, A176G, P135T 및 P95H로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;N331I, S175W, Y229H, C266S, M293K, R364S, R364G, R364T, R298W, P421L, M356V, G248R, E359K, T420M, S118F, T418M, S407L, A146T, S137L, G100S, P223L, G128W, S4 L347R, R366Q, R305L, P148L, S142L, S402F, P158L, P425I, R9H, H281R, V132I, S369Y, P148T, K387N, G342W, T279M, L347I, S172L, L114I, S213L, A286T, P163Q, G241F, R311S, P148T K358N, K292E, P98T, S82R, G232R, S82I, G143E, C287F, R275W, R9C, S93F, M356I, V337D, S121F, C183R, G278D, Q296K, L190P, S370R, A173T, L130H, S175L, S372F, P134S, S372F, P134S, S397Y G99S, S243Y, A310T, Q362R, N285K, D6H, A207D, P111S, S389I, G55C, S238R, W328C, T215I, H13R, L428Q, S139F, P424S, P111H, T108I, P299L, S230N, A441D, T71M, D335E, T335M at least one missense mutation selected from the group consisting of A176G, P135T and P95H;
Q73*, R366*, R390*, K377* 및 S381*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of Q73*, R366*, R390*, K377* and S381*;
E359Afs*44, S407Afs*99, S237Afs*28, V378Cfs*26, P135Rfs*60, D335Pfs*16, P408Lfs*98, R329Gfs*17, G246Afs*19, L396Qfs*109, H123Pfs*69, A394Lfs*110, S436Pfs*39, P408Qfs*97, T418Afs*86, P432Tfs*74, G443Vfs*32, P408Qfs*97, M438Wfs*37, T355Qfs*97, F430Sfs*38, G431Tfs*41, T355*, L416Pfs*83, S437Rfs*38, L396Hfs*107, S390Rfs*112, A441Pfs*34, P424Rfs*51, K387Rfs*17, C320Wfs*18, R330Mfs*20, N331Gfs*17 및 C284Afs*10로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;E359Afs*44, S407Afs*99, S237Afs*28, V378Cfs*26, P135Rfs*60, D335Pfs*16, P408Lfs*98, R329Gfs*17, G246Afs*19, L396Qfs*109, H123Pfs*69, A394436Pfs*110, A394436Pfs* 39, P408Qfs*97, T418Afs*86, P432Tfs*74, G443Vfs*32, P408Qfs*97, M438Wfs*37, T355Qfs*97, F430Sfs*38, G431Tfs*41, T355*, L416Pfs*83, S437Rfs*38, L396RfsHfs At least one frame shift delete selected from the group consisting of *107, S390Rfs*112, A441Pfs*34, P424Rfs*51, K387Rfs*17, C320Wfs*18, R330Mfs*20, N331Gfs*17 and C284Afs*10. ) mutations;
A441Hfs*44, D335Gfs*17, R330Efs*22, H434Pfs*42, S426Yfs*50, P408Afs*99, D335Gfs*17, P408Afs*99, G431Wfs*76, H434Pfs*73, D335Gfs*21, S426Ifs*81, P408Afs*99, S436Lfs*71, G334Wfs*18, C320Lfs*32, S237Qfs*66, S237Qfs*66, S401Vfs*106, S413Qfs*94, P435Tfs*41, M422Dfs*85, V47Gfs*6, *444Lfs*63, A441Rfs*66, N331Efs*21, S401Ffs*106, S426Afs*82, G314Rfs*38, H405Efs*103, N319Efs*33, T315Kfs*37, R330Nfs*24, H434Tfs*42, R69Qfs*234, C338Lfs*14, R330Efs*22, T417Dfs*90, M356Nfs*15, T440Sfs*68, A332Cfs*20, T332Dfs*30, Y344Sfs*12, N333Kfs*19, G443Pfs*34, P419Afs*88, F430Lfs*77, S402Pfs*3, P435Rfs*42, M422Dfs*85, S404Hfs*107, M442Hfs*65, N351Kfs*20, V337Gfs*21, H411Pfs*96, D335Vfs*35, T332Rfs*34, I361Rfs*11 및 A313Sfs*39로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 삽입(frame shift insert) 돌연변이;A441Hfs*44, D335Gfs*17, R330Efs*22, H434Pfs*42, S426Yfs*50, P408Afs*99, D335Gfs*17, P408Afs*99, G431Wfs*76, H434Pfs*73, D335Gfs*81, S426AIf 99, S436Lfs*71, G334Wfs*18, C320Lfs*32, S237Qfs*66, S237Qfs*66, S401Vfs*106, S413Qfs*94, P435Tfs*41, M422Dfs*85, V47Gfs*6, *444Lfs*63, A441Rfs*66 , N331Efs*21, S401Ffs*106, S426Afs*82, G314Rfs*38, H405Efs*103, N319Efs*33, T315Kfs*37, R330Nfs*24, H434Tfs*42, R69Qfs*234, C338Lfs*14, R330E4 *90, M356Nfs*15, T440Sfs*68, A332Cfs*20, T332Dfs*30, Y344Sfs*12, N333Kfs*19, G443Pfs*34, P419Afs*88, F430Lfs*77, S402Pfs*3, P435Rfs*42, M422Dfs*85 , S404Hfs*107, M442Hfs*65, N351Kfs*20, V337Gfs*21, H411Pfs*96, D335Vfs*35, T332Rfs*34, I361Rfs*11 and A313Sfs*39. shift insert) mutation;
T221delinsPACCELLYVPYVL인 인프레임 삽입(inframe insert) 돌연변이;an inframe insert mutation that is T221delinsPACCELLYVPYVL;
K358del, Y345del 및 M356_K387del로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 결실(inframe delete) 돌연변이;at least one inframe delete mutation selected from the group consisting of K358del, Y345del and M356_K387del;
X349_splice 및 X350_splice로 이루어진 군으로부터 선택되는 적어도 하나의 스플라이스(splice) 돌연변이; 및at least one splice mutation selected from the group consisting of X349_splice and X350_splice; and
GATA3-intragenic 및 LOC100128811-GATA3 fusion로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.At least one fusion mutation selected from the group consisting of GATA3-intragenic and LOC100128811-GATA3 fusion.
본 발명에 있어서, 상기 H3F3B을 암호화하는 유전자의 돌연변이는 서열번호 4이 암호화하는 아미노산 서열에서 하기 돌연변이로 이루어진 군에서 선택된 하나 이상일 수 있다.In the present invention, the mutation of the gene encoding H3F3B may be one or more selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 4.
E106K, V47G, D78N, F105L, D107N, E106K, G13R, K5M, R3G, E98K, S32C, Q69K, R18L, A25V, R9S, Q6P, I78T 및 Q6H로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;at least one missense mutation selected from the group consisting of E106K, V47G, D78N, F105L, D107N, E106K, G13R, K5M, R3G, E98K, S32C, Q69K, R18L, A25V, R9S, Q6P, I78T and Q6H;
E60*, E98* 및 R50*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of E60*, E98* and R50*;
R135Sfs*12, F105Kfs*33 및 A2Pfs*35로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;at least one frame shift delete mutation selected from the group consisting of R135Sfs*12, F105Kfs*33 and A2Pfs*35;
Q94Afs*4인 프레임 시프트 삽입(frame shift insert) 돌연변이; 및Q94Afs*4, a frame shift insert mutation; and
X37_splice인 스플라이스(splice) 돌연변이.A splice mutation that is X37_splice.
본 발명에 있어서, 상기 MYD88을 암호화하는 유전자의 돌연변이는 서열번호 5가 암호화하는 아미노산 서열에서 하기 돌연변이로 이루어진 군에서 선택된 하나 이상일 수 있다.In the present invention, the mutation of the gene encoding MYD88 may be one or more selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 5.
K275T, L265P, E139K, S243N, S219C, R301C, R5C, A13V, D184N, M67V, V27A, D288N, P19S, E70K, R301H, S296C, T84A, Y240C, P292T, I130M, T61I, G96D, Q262E, P83S, P11L, P9L, R41P, R94H 및 K271T로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;K275T, L265P, E139K, S243N, S219C, R301C, R5C, A13V, D184N, M67V, V27A, D288N, P19S, E70K, R301H, S296C, T84A, Y240C, P292T, I130M, T61I, G96D, Q262E, P83S, P11L, P83S at least one missense mutation selected from the group consisting of P9L, R41P, R94H and K271T;
Q159*, Q189* 및 E172*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of Q159*, Q189* and E172*;
R101Afs*19인 프레임 시프트 결실(frame shift delete) 돌연변이;a frame shift delete mutation that is R101Afs*19;
*X228_splice인 스플라이스(splice) 돌연변이; 및*X228_splice splice mutation; and
MYD88-ACAA1 fusion, MYD88-CTDSPL fusion, OXSR1-MYD88 fusion 및 MYD88-VILL fusion로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.At least one fusion mutation selected from the group consisting of MYD88-ACAA1 fusion, MYD88-CTDSPL fusion, OXSR1-MYD88 fusion and MYD88-VILL fusion.
본 발명에 있어서, 상기 고형암은 방광암(Bladder cancer), 대장암(Colon cancer), 위암(Stomach cancer), 폐암(Lung cancer), 폐선암(Lung adenocarcinoma), 유방침습성유관암종(Breast invasive ductal carcinoma), 결장선암(Colon adenocarcinoma), 전립선선암(Prostate adenocarcinoma), 방광요로피암종(Bladder urothelial carcinoma), 폐편평세포암종(Lung squamous cell carcinoma), 피부흑색종(Cutaneous melanoma), 원발부위불명암(Cancer of unknown primary), 췌장도관선암종(Pancreatic adenocarcinoma), 교모세포종(Glioblastoma multiforme), 대장선암(Colorectal adenocarcinoma), 고등급장액성난소암(High grade serous ovarian cancer), 위선암(Stomach adenocarcinoma), 신세포암종(Renal clear cell carcinoma), 식도암(Esophageal adenocarcinoma), 고환암(Testicular cancer) 또는 간내담관암(Intrahepatic cholangiocarcinoma)일 수 있다.In the present invention, the solid cancer is bladder cancer, colon cancer, stomach cancer, lung cancer, lung adenocarcinoma, breast invasive ductal carcinoma , Colon adenocarcinoma, Prostate adenocarcinoma, Bladder urothelial carcinoma, Lung squamous cell carcinoma, Cutaneous melanoma, Cancer of unknown origin of unknown primary), Pancreatic adenocarcinoma, Glioblastoma multiforme, Colorectal adenocarcinoma, High grade serous ovarian cancer, Stomach adenocarcinoma, renal cell carcinoma ( Renal clear cell carcinoma), esophageal adenocarcinoma, testicular cancer, or intrahepatic cholangiocarcinoma.
본 발명에 있어서, 고형암 환자의 전이기간 특이적 마커는 암의 발병 이후 시간의 경과에 따른 전이의 발생 위험을 예측하는데 이용할 수 있으며, 전이가 발생한 환자의 예후(생존)을 예측하는 용도로 이용할 수 있다. In the present invention, the metastasis period-specific marker of a solid cancer patient can be used to predict the risk of metastasis over time after the onset of cancer, and can be used for predicting the prognosis (survival) of a patient with metastasis. have.
또한, 본 발명은 CREBBP, ESR1, GATA3, H3F3B 및 MYD88로 이루어진 군으로부터 선택되는 하나 이상을 암호화하는 유전자의 돌연변이를 검출할 수 있는 제제를 포함하는, 고형암 환자의 전이기간에 따른 치료 효과 예측 또는 예후 진단용 조성물을 제공한다.In addition, the present invention includes an agent capable of detecting a mutation of one or more genes encoding one or more selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88. A diagnostic composition is provided.
CREBBP, ESR1, GATA3, H3F3B 및 MYD88로 이루어진 군으로부터 선택되는 하나 이상을 암호화하는 유전자의 돌연변이를 검출할 수 있는 제제를 포함하는, 고형암 환자의 전이기간에 따른 치료 효과 예측 또는 예후 진단용 조성물.A composition for predicting treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient, comprising an agent capable of detecting a mutation in a gene encoding one or more selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88.
본 발명에서 용어 '암'은 이상 세포의 조절되지 않는 성장을 특징으로 하는 질환 부류의 임의의 일원을 포함한다. 상기 용어는, 악성, 양성, 연조직 또는 고형 중 어느 것으로 특징지어지든, 모든 알려진 암 및 신생물 상태, 및 전이 전/후의 암을 포함하는 모든 시기 및 등급의 암을 포함하며, 이에 제한되는 것은 아니지만 방광암(Bladder cancer), 대장암(Colon cancer), 위암(Stomach cancer), 폐암(Lung cancer), 폐선암(Lung adenocarcinoma), 유방침습성유관암종(Breast invasive ductal carcinoma), 결장선암(Colon adenocarcinoma), 전립선선암(Prostate adenocarcinoma), 방광요로피암종(Bladder urothelial carcinoma), 폐편평세포암종(Lung squamous cell carcinoma), 피부흑색종(Cutaneous melanoma), 원발부위불명암(Cancer of unknown primary), 췌장도관선암종(Pancreatic adenocarcinoma), 교모세포종(Glioblastoma multiforme), 대장선암(Colorectal adenocarcinoma), 고등급장액성난소암(High grade serous ovarian cancer), 위선암(Stomach adenocarcinoma), 신세포암종(Renal clear cell carcinoma), 식도암(Esophageal adenocarcinoma), 고환암(Testicular cancer) 및 간내담관암(Intrahepatic cholangiocarcinoma)일 수 있다.As used herein, the term 'cancer' includes any member of a class of diseases characterized by the uncontrolled growth of abnormal cells. The term includes all known cancers and neoplastic conditions, whether characterized as malignant, benign, soft tissue or solid, and cancers of all stages and grades, including, but not limited to, cancers before and after metastasis. Bladder cancer, colon cancer, stomach cancer, lung cancer, lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, Prostate adenocarcinoma, Bladder urothelial carcinoma, Lung squamous cell carcinoma, Cutaneous melanoma, Cancer of unknown primary, Pancreatic ductal adenocarcinoma (Pancreatic adenocarcinoma), Glioblastoma multiforme, Colorectal adenocarcinoma, High grade serous ovarian cancer, Stomach adenocarcinoma, Renal clear cell carcinoma, Esophageal cancer Esophageal adenocarcinoma), testicular cancer, and intrahepatic cholangiocarcinoma.
본 발명에서 용어 '유전자' 및 이의 변형물은 폴리펩티드 사슬 생성에 관여한 DNA 조각을 포함하며; 이는 코딩 부위 이전 및 이후의 부위, 예를 들면 프로모터 및 3'-미번역 부위를 각각 포함할 뿐 아니라, 개별적인 코딩 단편(엑손) 사이의 개입 서열(인트론)을 포함한다.In the present invention, the term 'gene' and its variants include DNA fragments involved in the production of polypeptide chains; It includes regions before and after the coding region, eg promoters and 3'-untranslated regions, respectively, as well as intervening sequences (introns) between individual coding fragments (exons).
본 발명에서 용어 '전이기간'은 전이성 고형암에서 전이가 발생한 시점을 의미한다.In the present invention, the term 'metastasis period' refers to the time point at which metastasis occurs in metastatic solid cancer.
상기 유전자의 돌연변이는 임의의 하나 이상의 돌연변이를 포함할 수 있고, 예를 들면, 절단형(truncating) 돌연변이, 미스센스(missense) 돌연변이(또는 과오 돌연변이), 넌센스(nonsense) 돌연변이, 프레임 시프트(frame shift) 돌연변이, 인프레임(in-frame) 돌연변이(또는 해독틀내 돌연변이), 스플라이스(splice) 돌연변이, 스플라이스 사이트(splice_region) 돌연변이, 논 스탑(nonstop) 돌연변이, 논 스타트(nonstart) 돌연변이 및 퓨전(fusion) 돌연변이로 이루어진 군으로부터 선택되는 적어도 하나의 돌연변이를 가질 수 있다. 상기 프레임 시프트 돌연변이는 프레임 시프트 삽입(frame shift insert, FS ins) 돌연변이 및 프레임 시프트 결실 돌연변이(frame shift delete, FS del) 중 적어도 하나일 수 있고, 상기 인-프레임 돌연변이는 인-프레임 삽입(in-frame insertion, IF ins) 돌연변이 및 인-프레임 결실(in-frame delete, IF del) 돌연변이 중 적어도 하나일 수 있다.The mutation of the gene may include any one or more mutations, for example, a truncating mutation, a missense mutation (or a missense mutation), a nonsense mutation, a frame shift ) mutations, in-frame mutations (or in-frame mutations), splice mutations, splice_region mutations, nonstop mutations, nonstart mutations and fusions ) may have at least one mutation selected from the group consisting of mutations. The frame shift mutation may be at least one of a frame shift insert (FS ins) mutation and a frame shift delete mutation (FS del), and the in-frame mutation is an in-frame insertion (in-frame) mutation. It may be at least one of a frame insertion, IF ins) mutation and an in-frame delete (IF del) mutation.
본 발명에서 '미스센스 돌연변이'는 DNA 염기 서열 중 한 개의 염기가 다른 염기로 치환되어 아미노산의 코돈이 다른 코돈으로 바뀌게 하는 돌연변이를 의미한다.In the present invention, the term 'missense mutation' refers to a mutation in which one base in a DNA base sequence is substituted with another base to change the codon of an amino acid to another codon.
본 발명에서 용어 '넌센스 돌연변이'는 유전자의 특정 염기서열의 일부가 정지코돈으로 전환되어 더 이상 단백질의 합성이 이루어지지 않는 돌연변이를 의미한다. In the present invention, the term 'nonsense mutation' refers to a mutation in which a part of a specific nucleotide sequence of a gene is converted to a stop codon, so that protein synthesis is no longer made.
본 발명에서 용어 '프레임 시프트 삽입'은 DNA에 하나 또는 그 이상의 뉴클레오타이드가 부가되어 유전 암호의 해독틀이 이동하여 어긋나 일어나는 돌연변이를 의미한다. In the present invention, the term 'frame shift insertion' refers to a mutation that occurs when one or more nucleotides are added to DNA to shift the decoding frame of the genetic code.
본 발명에서 용어 '프레임 시프트 결실'은 DNA에 하나 또는 그 이상의 뉴클레오타이드가 결실되어 유전 암호의 해독틀이 이동하여 어긋나 일어나는 돌연변이를 의미한다.In the present invention, the term 'frame shift deletion' refers to a mutation in which one or more nucleotides are deleted in DNA and the reading frame of the genetic code is shifted and shifted.
본 발명에서 용어 '인-프레임 삽입'는 유전자의 특정 염기서열의 삽입이 일어났으나 삽입된 염기서열에 의한 아미노산을 제외한 나머지 아미노산 은 변화가 없는 돌연변이를 의미한다. In the present invention, the term 'in-frame insertion' refers to a mutation in which a specific nucleotide sequence of a gene has been inserted, but the remaining amino acids except for the amino acid by the inserted nucleotide sequence are not changed.
본 발명에서 용어 '인-프레임 결실'는 유전자의 특정 염기서열의 결실이 일어났으나 결실된 염기서열에 의한 아미노산을 제외한 나머지 아미노산 은 변화가 없는 돌연변이를 의미한다. In the present invention, the term 'in-frame deletion' refers to a mutation in which a specific nucleotide sequence of a gene is deleted, but the remaining amino acids except for the amino acid caused by the deleted nucleotide sequence are not changed.
본 발명에서 용어 '스플라이스 사이트 돌연변이'는 유전자의 특정 위치의 뉴클레오티드가 치환된 유전자 돌연변이를 의미한다.In the present invention, the term 'splice site mutation' refers to a gene mutation in which a nucleotide at a specific position of a gene is substituted.
본 발명에서 용어 '논 스타트 돌연변이'는 염기의 치환 또는 프레임 시프트로 인해 개시코돈이 사라진 유전자 돌연변이를 의미한다.In the present invention, the term 'non-start mutation' refers to a gene mutation in which the start codon is lost due to base substitution or frame shift.
본 발명에서 용어 '논 스탑 돌연변이'는 염기의 치환 또는 프레임 시프트로 인해 종결코돈이 사라진 유전자 돌연변이를 의미한다.As used herein, the term 'non-stop mutation' refers to a gene mutation in which a stop codon is lost due to base substitution or frame shift.
본 발명에서 용어 '퓨전 돌연변이'는 특정 유전자들이 구조적 재배열(전좌, 역위, 결손 및 삽입) 또는 비구조적 재배열(번역초과 등)을 통해 구조적 이상이 발생된 유전자 돌연변이를 의미한다.In the present invention, the term 'fusion mutation' refers to a gene mutation in which a structural abnormality occurs through structural rearrangement (translocation, inversion, deletion, and insertion) or non-structural rearrangement (over-translation, etc.) of specific genes.
폴리펩티드 서열에서의 돌연변이와 관련하여 용어 "X#Y"는 본 기술 분야에서 자명하게 인식되는 것으로, 여기서 "#"는 폴리펩티드의 아미노산 번호와 관련하여 돌연변이 위치를 나타내고, "X"는 야생형 아미노산 서열의 그 위치에서 발견되는 아미노산을 나타내며, "Y"는 그 위치에서의 돌연변이체 아미노산을 나타낸다. 예를 들어, BAZ2B 폴리펩티드와 관련하여 표기 "G1717V"는 야생형 BAZ2B 서열의 아미노산 번호 1717에는 글리신이 존재하고, 글리신이 돌연변이체 BAZ2B 서열에서 발린으로 대체되었음을 나타낸다. The term "X#Y" in reference to mutations in a polypeptide sequence is self-recognized in the art, where "#" indicates the mutation site with respect to the amino acid number of the polypeptide, and "X" is that of the wild-type amino acid sequence. indicates the amino acid found at that position, and "Y" indicates the mutant amino acid at that position. For example, the designation "G1717V" with respect to a BAZ2B polypeptide indicates that glycine is present at amino acid number 1717 of the wild-type BAZ2B sequence and that glycine has been replaced by valine in the mutant BAZ2B sequence.
폴리펩티드 서열에서의 돌연변이와 관련하여 용어 "*"는 본 기술 분야에서 자명하게 인식되는 것으로 여기서 "*"는 1개 및 3개의 아미노산 코드에서 번역 정지 코돈을 나타내는데 사용될 수 있고, 예를 들어, 넌센스 돌연변이에서 *는 해당 아미노산 위치에서의 아미노산 합성이 종료된 것을 나타낸다.The term "*" in reference to mutations in a polypeptide sequence is readily recognized in the art where "*" may be used to indicate translation stop codons in the one and three amino acid codes, e.g., nonsense mutations * indicates that the amino acid synthesis at the corresponding amino acid position is terminated.
폴리펩티드 서열에서의 돌연변이와 관련하여 용어 "_"는 본 기술 분야에서 자명하게 인식되는 것으로 여기서 "_"는 범위를 나타내며 예를 들어 A200_C240라고 사용된 경우에는 해당 폴리펩티드의 200번 아미노산 서열의 알라닌(Alanine)부터 240번 아미노산 서열에 위치한 시스테인(Cystein) 까지의 범위를 나타낸다.The term "_" with respect to a mutation in a polypeptide sequence is readily recognized in the art, where "_" denotes a range and, for example, when A200_C240 is used, the alanine of the 200 amino acid sequence of the polypeptide. ) to the cysteine located at amino acid sequence 240 is indicated.
폴리펩티드 서열에서의 돌연변이와 관련하여 용어 "del"은 본 기술분야에서 자명하게 인식되는 것으로 여기서 "del"은 결실을 나타내며, 예를 들어 V7del라고 사용된 경우에는 특정 서열에서 7번째 위치한 발린(Valine)의 결실을 의미하며, V76_S79del라고 사용된 경우에는 특정 서열에서 76번에 위치한 발린부터 79번에 위치한 세린(Serine)까지의 결실이 일어난 돌연변이를 의미한다.The term "del" in reference to a mutation in a polypeptide sequence is readily recognized in the art where "del" denotes a deletion, e.g., when used as V7del, the 7th position in a particular sequence, the valine , and when used as V76_S79del, it means a mutation in which a deletion from valine located at position 76 to serine located at position 79 in a specific sequence occurs.
폴리펩티드 서열에서의 돌연변이와 관련하여 용어 "ins"는 본 기술분야에서 자명하게 인식되는 것으로 여기서 "ins"는 삽입을 나타내며, 예를 들어 V76_S77insV라고 사용된 경우에는 특정 서열에서 76번에 위치한 발린부터 77번에 위치한 세린(Serine) 사이에 발린의 삽입이 일어난 돌연변이를 의미한다.The term "ins" with respect to a mutation in a polypeptide sequence is art-recognized as self-evident in the art where "ins" denotes an insertion, e.g., when used as V76_S77insV, from valine at position 76 to 77 in a particular sequence. It means a mutation in which valine is inserted between the serine located at the berth.
폴리펩티드 서열에서의 돌연변이와 관련하여 용어 "dup"는 본 기술분야에서 자명하게 인식되는 것으로 여기서 "dup"는 결실을 나타내며, 예를 들어 V7dup라고 사용된 경우에는 특정 서열에서 7번째 위치한 발린(Valine)이 복제되어 2개의 발린을 가지는 서열을 나타내며, V76_S79dup라고 사용된 경우에는 특정 서열에서 76번에 위치한 발린부터 79번에 위치한 세린(Serine)까지의 동일한 순서의 서열이 복제가 일어난 돌연변이를 의미한다.The term "dup" in reference to a mutation in a polypeptide sequence is art-recognized as is self-evident in the art, where "dup" denotes a deletion, e.g., when used as V7dup, the 7th position of the sequence is Valine. This duplicate represents a sequence having two valines, and when V76_S79dup is used, the sequence of the same sequence from valine located at position 76 to serine located at position 79 in a specific sequence refers to a mutation in which replication has occurred.
폴리펩티드 서열에서의 돌연변이와 관련하여 용어 "fs"는 본 기술분야에서 자명하게 인식되는 것으로 여기서 "fs"는 프레임 쉬프트를 나타내며, 예를 들어 V97SfsTer23 또는 V97Sfs*23라고 사용된 경우에는 특정 서열에서 97번째 위치한 발린이 세린으로 바뀌고 그로부터 23번뒤의 위치(120번째 아미노산 서열)에서 종결코돈(Termination, Ter)이 있다는 것을 나타내며, V76_S79*?라고 사용된 경우에는 특정 서열에서 97번째 위치한 발린이 세린으로 바뀌었지만, 새로운 종결코돈이 나타나지 않은 돌연변이를 의미한다.The term "fs" in reference to mutations in a polypeptide sequence is art-recognized as self-evident in the art where "fs" stands for a frame shift, e.g. when used as V97SfsTer23 or V97Sfs*23, the 97th position in a particular sequence It indicates that the valine located at position is changed to serine and there is a termination codon (Termination, Ter) at the position 23 (120th amino acid sequence) after it, and when V76_S79*? , means a mutation in which a new stop codon does not appear.
폴리펩티드 서열에서의 돌연변이와 관련하여 용어 "fusion"은 본 기술분야에서 자명하게 인식되는 것으로 여기서 "fusion"은 유전자의 융합(퓨전, fusion)을 나타내며, 예를 들어 만성골수성백혈병을 유발하는 것으로 알려진 BCR-ABl fusion은 전좌로 BCR과 ABL 유전자가 융합된 퓨전 돌연변이를 의미한다. 그 퓨전 방법은 이에 한정되지 않으나, 구조적 재배열(전좌, 역위, 결손 및 삽입) 또는 비구조적 재배열(번역초과 등)을 통해 퓨전 될 수 있다.The term "fusion" in reference to a mutation in a polypeptide sequence is self-recognized in the art where "fusion" refers to the fusion of genes, eg BCR, which is known to cause chronic myeloid leukemia. -ABl fusion refers to a fusion mutation in which the BCR and ABL genes are fused by translocation. The fusion method is not limited thereto, but may be fused through structural rearrangement (translocation, inversion, deletion and insertion) or non-structural rearrangement (overtranslation, etc.).
상기 유전자의 돌연변이를 이용하여 고형암의 예후를 진단하기 위한 분석 방법으로 차세대 염기서열분석법(next generation sequencing, NGS), RT-PCR, 직접 핵산 서열분석 방법, 마이크로 어레이가 사용될 수 있으며, 본 발명의 유전자의 돌연변이를 이용하여 돌연변이의 존재를 확인할 수 있는 방법이라면 제한없이 적용할 수 있다. Next generation sequencing (NGS), RT-PCR, direct nucleic acid sequencing, and microarray can be used as an analysis method for diagnosing the prognosis of solid cancer using the mutation of the gene, and the gene of the present invention Any method that can confirm the existence of a mutation using a mutation of
한 실시 양태에서, 돌연변이의 존재는 엄격한 조건 하에 각 유전자의 돌연변이의 폴리뉴클레오티드에 혼성화하는 항-(각 유전자의 돌연변이) 항체 또는 핵산 프로브를 사용하여 결정된다. In one embodiment, the presence of a mutation is determined using an anti-(mutant of each gene) antibody or nucleic acid probe that hybridizes under stringent conditions to the polynucleotide of the mutation of each gene.
또 다른 실시양태에서, 항체 또는 핵산 프로브는 검출 가능하게 표지된다. 또 다른 실시양태에서, 표지는 면역형광 표지, 화학발광 표지, 인광 표지, 효소 표지, 방사성 표지, 아비딘/비오틴, 콜로이드성 금 입자, 착색 입자 및 자기입자로 이루어진 군으로부터 선택된다. In another embodiment, the antibody or nucleic acid probe is detectably labeled. In another embodiment, the label is selected from the group consisting of an immunofluorescent label, a chemiluminescent label, a phosphorescent label, an enzymatic label, a radioactive label, avidin/biotin, colloidal gold particles, colored particles, and magnetic particles.
또 다른 실시양태에서, 돌연변이의 존재는 방사성면역 검정, 웨스턴블롯 검정, 면역형광 검정, 효소면역 검정, 면역침전 검정, 화학발광 검정, 면역조직화학 검정, 도트 블롯 검정, 슬롯 블롯 검정 또는 유동세포측정 검정에 의해 결정된다. In another embodiment, the presence of the mutation is determined by radioimmunoassay, western blot assay, immunofluorescence assay, enzymatic immunoassay, immunoprecipitation assay, chemiluminescence assay, immunohistochemical assay, dot blot assay, slot blot assay, or flow cytometry. determined by the assay.
또 다른 실시양태에서, 돌연변이의 존재는 RT-PCR에 의해 결정된다. 또 다른 실시양태에서, 돌연변이의 존재는 핵산 서열분석에 의해 결정된다.In another embodiment, the presence of the mutation is determined by RT-PCR. In another embodiment, the presence of a mutation is determined by nucleic acid sequencing.
본 발명에서 용어 '폴리뉴클레오티드'는 일반적으로 비변형된 RNA 또는 DNA 또는 변형된 RNA 또는 DNA일 수 있는 임의의 폴리리보뉴클레오티드 또는 폴리데옥시리보뉴클레오티드를 지칭한다. 따라서, 예를 들어 본원에 정의된 바와 같은 폴리뉴클레오티드는 비제한적으로 단일- 및 이중-가닥 DNA, 단일- 및 이중-가닥 영역을 포함하는 DNA, 단일- 및 이중-가닥 RNA, 및 단일- 및 이중-가닥영역을 포함하는 RNA, 단일-가닥 또는 보다 전형적으로는 이중-가닥일 수도 있거나 또는 단일- 및 이중-가닥 영역을 포함할 수 있는 DNA 및 RNA를 포함하는 하이브리드As used herein, the term 'polynucleotide' generally refers to any polyribonucleotide or polydeoxyribonucleotide, which may be unmodified RNA or DNA or modified RNA or DNA. Thus, for example, polynucleotides as defined herein include, but are not limited to, single- and double-stranded DNA, DNA comprising single- and double-stranded regions, single- and double-stranded RNA, and single- and double-stranded DNA. - an RNA comprising a single-stranded region, or a hybrid comprising DNA and RNA, which may be single-stranded or more typically double-stranded or may comprise single- and double-stranded regions
분자를 포함한다. 따라서, 안정성 또는 다른 이유로 인해 변형된 백본을 갖는 DNA 또는 RNA는 본원에서 의도된 용어와 같은 '폴리뉴클레오티드'이다. 또한, 이노신과 같은 비통상적 염기 또는 삼중수소화 염기와 같은 변형된 염기를 포함하는 DNA 또는 RNA가 본원에 정의된 바와 같은 용어 '폴리뉴클레오티드'에 포함된다. 일반적으로, 용어 '폴리뉴클레오티드'는 비변형된 폴리뉴클레오티드의 모든 화학적으로, 효소적으로 및/또는 대사적으로 변형된 형태를 포함한다. 폴리뉴클레오티드는 시험관내 재조합 DNA-매개 기술을 비롯한 다양한 방법에 의해, 그리고 세포 및 유기체 내의 DNA의 발현에 의해 제조될 수 있다.contains molecules. Thus, DNA or RNA having a backbone that has been modified for stability or other reasons is a 'polynucleotide' as the term is intended herein. Also included in the term 'polynucleotide' as defined herein is DNA or RNA comprising an unconventional base such as inosine or a modified base such as a tritiated base. In general, the term 'polynucleotide' includes all chemically, enzymatically and/or metabolically modified forms of unmodified polynucleotides. Polynucleotides can be prepared by a variety of methods, including in vitro recombinant DNA-mediated techniques, and by expression of DNA in cells and organisms.
본 발명의 다른 측면은, 상기 조성물을 포함하는, 고형암 환자의 전이기간에 따른 치료 효과 예측 또는 예후 진단용 키트를 제공하는 것이다. Another aspect of the present invention is to provide a kit for predicting treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient, comprising the composition.
상기와 같이 제작된 본 발명의 키트는 기존의 일반적인 유전자의 돌연변이 검색 방법에 비하여 시간과 비용이 절감되어 매우 경제적이다. SSCP(Single Strand Conformational Polymorphism), PTT(Protein Truncation Test), 클로닝(cloning), 직접 염기서열 분석(direct sequencing) 등과 같은 기존의 유전자 돌연변이 검색 방법을 이용하여 한 유전자를 모두 검사하려면 평균적으로 수 일 내지 수개월이 소요된다. 또한, 차세대 염기서열 분석법(next generation sequencing: NGS)을 통해서도 빠르고 간단하게 유전자 돌연변이를 정밀하게 검사할 수 있다. 돌연변이를 SSCP, 클로닝, 직접 염기 서열 분석, RFLP(Restriction Fragment Length Polymorphism) 등의 기존 분석방법에 의해 검사하는 경우 검사 완료까지 약 한달 가량이 소요되는 반면, 본 발명의 키트를 이용하면 시료 DNA가 준비되어 있을 경우 약 10 내지 11시간 내에 결과를 얻을 수 있고, 칩 하나에 돌연변이를 검출할 수 있는 프라이머 세트가 함께 집적되어 있기 때문에 기존의 방법에 비해 시간뿐만 아니라 비용까지 절감할 수 있다. 기존의 방법에 비해 매 실험 당 평균 절반 이하의 시약비가 소모되므로 연구자의 인건비까지 감안하였을 때 더욱 큰 비용의 절감 효과를 기대할 수 있게 된다.The kit of the present invention prepared as described above is very economical because it saves time and money compared to the existing general gene mutation search method. Using existing gene mutation detection methods such as Single Strand Conformational Polymorphism (SSCP), Protein Truncation Test (PTT), cloning, and direct sequencing, it takes several days on average to test all one gene. It takes several months. In addition, gene mutations can be precisely examined quickly and simply through next generation sequencing (NGS). In the case of testing mutations by existing analysis methods such as SSCP, cloning, direct sequencing, and RFLP (Restriction Fragment Length Polymorphism), it takes about a month to complete the test, whereas using the kit of the present invention, sample DNA is prepared If it is done, results can be obtained within about 10 to 11 hours, and since a primer set capable of detecting mutations is integrated on one chip, not only time but also cost can be reduced compared to the conventional method. Compared to the existing method, the average cost of reagents is less than half per experiment, so even greater cost savings can be expected when the researcher's labor costs are taken into account.
2. 전이기간 특이적 돌연변이 유전자를 이용한 고형암의 예후 진단을 위해 필요한 정보를 제공하는 방법2. Method of providing information necessary for prognosis diagnosis of solid cancer using metastatic period-specific mutant gene
*본 발명의 다른 측면은 전이가 발생한 시점(전이기간)을 알고 있는 고형암 환자의 샘플로부터 시료 DNA를 준비하는 단계; 상기 시료 DNA를 상기 키트를 이용하여 증폭하는 단계; 증폭 결과로부터 전이기간 특이적 마커의 유무를 확인하는 단계; 전이기간 특이적 마커가 확인된 고형암 환자에 임의의 고형암 치료 후보 물질을 처리하거나, 임의의 방법으로 치료하는 단계; 및 임의의 고형암 치료 후보 물질 또는 임의의 치료 방법이 고형암을 개선하거나, 치료할 경우 전이기간 특이적 마커가 확인된 고형암 환자에 적합한 치료 후보 물질 또는 치료 방법으로 채택하는 단계;를 포함하는 고형암 환자의 전이기간에 따른 암 치료 효과의 차이를 판정하기 위해 필요한 정보를 제공하는 방법을 제공한다.* Another aspect of the present invention comprises the steps of preparing sample DNA from a sample of a solid cancer patient whose time point (metastasis period) is known; amplifying the sample DNA using the kit; confirming the presence or absence of a metastasis period-specific marker from the amplification result; treating a solid cancer patient for which a metastasis period-specific marker has been identified, or treating a solid cancer treatment candidate by any method; And when any solid cancer treatment candidate material or any treatment method improves or treats solid cancer, adopting it as a treatment candidate or treatment method suitable for a solid cancer patient whose metastasis period-specific marker has been identified; metastasis of solid cancer patients, including Provided is a method for providing information necessary to determine a difference in cancer treatment effect over time.
본 발명의 일 실시예에서, 상기 전이기간 특이적 마커인 CREBBP, ESR1, GATA3, H3F3B 및 MYD88로 이루어진 군으로부터 선택되는 하나를 암호화하는 유전자의 돌연변이인 방법일 수 있다.In one embodiment of the present invention, the method may be a mutation of a gene encoding one selected from the group consisting of CREBBP, ESR1, GATA3, H3F3B and MYD88, which are the metastasis period-specific markers.
본 발명의 다른 실시예에서, 전이성 고형암 환자 중 전이기간 그룹 I 특이적인 전이기간 특이적 마커는 ESR1, GATA3 및 MYD88을 암호화하는 유전자의 돌연변이인 방법일 수 있다.In another embodiment of the present invention, the metastasis period group I-specific metastasis period-specific marker among metastatic solid cancer patients may be a mutation in genes encoding ESR1, GATA3 and MYD88.
본 발명의 또 다른 실시예에서, 전이성 고형암 환자 중 전이기간 그룹 Ⅱ 특이적인 전이기간 특이적 마커는 H3F3B를 암호화하는 유전자의 돌연변이인 방법일 수 있다.In another embodiment of the present invention, the metastasis period group II-specific metastasis period-specific marker among metastatic solid cancer patients may be a mutation in a gene encoding H3F3B.
본 발명의 또 다른 실시예에서, 전이성 고형암 환자 중 전이기간 그룹 Ⅲ 특이적인 전이기간 특이적 마커는 CREBBP, ESR1 및 GATA3를 암호화하는 유전자의 돌연변이인 방법일 수 있다.In another embodiment of the present invention, the metastasis period group III-specific metastasis period-specific marker among metastatic solid cancer patients may be a mutation in genes encoding CREBBP, ESR1 and GATA3.
본 발명의 또 다른 측면은 고형암 환자의 샘플로부터 시료 DNA를 준비하는 단계; 상기 시료 DNA를 상기 키트를 이용하여 증폭하는 단계; 및 상기 증폭 결과로부터 전이기간 특이적 마커의 유무를 확인하는 단계;를 포함하는 고형암 환자의 전이기간에 따른 고형암의 예후 진단을 위해 필요한 정보를 제공하는 방법을 제공한다.Another aspect of the present invention comprises the steps of preparing a sample DNA from a sample of a solid cancer patient; amplifying the sample DNA using the kit; and confirming the presence or absence of a metastasis period-specific marker from the amplification result.
*상기 고형암의 예후 진단용 키트'에 대한 설명은 '1. 고형암 환자에서 전이기간 특이적 돌연변이 유전자'에 기재한 바와 동일하므로 구체적인 설명을 생략한다.*For the description of the kit for prognostic diagnosis of solid cancer, refer to '1. Since it is the same as described in 'Metastatic period-specific mutant gene in solid cancer patients', a detailed description will be omitted.
상기 임의의 치료 후보 물질은 고형암 치료를 위해서 통상적으로 쓰이는 치료제 또는 고형암에 대한 치료 효과가 알려지지 않은 신규 물질일 수 있으나, 이에 한정되지 않는다. 상기 임의의 치료 후보 물질을 재발 특이적 마커를 가지는 고형암 환자에 처리한 후 치료 효과를 확인함으로써, 치료 후보 물질이 특정 환자군에 효과가 있는지 여부를 알 수 있다. 만약 고형암 치료 효과가 있다면 동일한 전이기간 특이적 마커를 가지는 환자군에 적용할 때에 치료 효과가 높다고 예측할 수 있으므로 치료 전략을 결정하는데 유용한 정보를 제공할 수 있다. 또한, 만약 임의의 치료 후보 물질을 사용시에 치료 효과가 나타나지 않을 경우에는 동일한 재발 특이적 마커를 가지는 환자군에는 더 이상 치료를 진행하지 않음으로써 불필요한 치료를 실시하지 않아도 되므로 치료 전략을 효율적으로 설계할 수 있다.Any of the therapeutic candidate substances may be a therapeutic agent commonly used for the treatment of solid cancer or a novel substance whose therapeutic effect on solid cancer is unknown, but is not limited thereto. By treating any of the above candidate therapeutic substances to a solid cancer patient having a recurrence-specific marker and then confirming the therapeutic effect, it can be determined whether the therapeutic candidate substance is effective in a specific patient group. If there is a treatment effect for solid cancer, the treatment effect can be predicted to be high when applied to a patient group having the same metastasis period-specific marker, so it can provide useful information for determining a treatment strategy. In addition, if a therapeutic effect does not appear when any treatment candidate is used, treatment strategy can be designed efficiently because unnecessary treatment is not required by not proceeding with treatment for the patient group having the same recurrence-specific marker. have.
상기 임의의 치료 후보 물질 대신에 임의의 고형암 치료 방법 역시 적용가능하며, 특정 전이기간 특이적 마커를 가지는 환자군에서 치료 효과를 확인함으로써 동일한 전이기간 특이적 마커를 가지는 환자군에 적용할지 여부를 결정할 수 있다. 전이기간 특이적 마커를 가지는 환자군에서 치료 효과를 확인시에는 임의의 치료 후보 물질과 임의의 고형암 치료 방법이 병행될 수 있다.Any solid cancer treatment method is also applicable instead of any of the above treatment candidates, and by confirming the therapeutic effect in a patient group having a specific metastasis period-specific marker, it can be determined whether to apply to a patient group having the same metastasis period-specific marker. . When confirming the therapeutic effect in a patient group having a metastasis period-specific marker, any treatment candidate substance and any solid cancer treatment method may be combined.
본원에서 사용되는 용어 '샘플'은 환자로부터 수득한 임의의 생물학적 표본을 포함한다. 샘플은 전혈, 혈장, 혈청, 적혈구, 백혈구(예를 들어 말초 혈액 단핵구), 유관액, 복수, 늑막 유출물(pleural efflux), 수유관액(nipple aspirate), 림프액(예를 들어 림프절의 파종성 종양 세포), 골수 흡인물, 타액, 소변, 대변(즉, 배설물), 가래, 기관지 세척액, 눈물, 미세 바늘 흡인물(예를 들어 무작위 유선 미세 바늘 흡인에 의해 수확된), 임의의 기타 체액, 조직 샘플(예를 들어 종양 조직) 예컨대 종양 생검(예를 들어 천자 생검) 또는 림프절(예를 들어 감시(sentinel) 림프절 생검), 조직 샘플(예를 들어 종양 조직), 예를 들면 종양의 수술적 절제 및 이의 세포 추출물을 포함한다. As used herein, the term 'sample' includes any biological sample obtained from a patient. Samples include whole blood, plasma, serum, red blood cells, white blood cells (eg peripheral blood mononuclear cells), ductal fluid, ascites, pleural efflux, nipple aspirate, lymphatic fluid (eg, disseminated tumors of lymph nodes). cells), bone marrow aspirate, saliva, urine, feces (i.e. feces), sputum, bronchial lavage fluid, tears, microneedle aspirate (e.g. harvested by random mammary microneedle aspiration), any other bodily fluid, tissue A sample (eg tumor tissue) such as a tumor biopsy (eg puncture biopsy) or lymph node (eg sentinel lymph node biopsy), a tissue sample (eg tumor tissue), eg surgical resection of a tumor and cell extracts thereof.
용어 '환자'는 통상 인간을 포함할 뿐 아니라 다른 동물, 예를 들어 다른 영장류, 설치류, 개, 고양이, 말, 양, 돼지 등을 포함할 수 있다.The term 'patient' usually includes humans as well as other animals, such as other primates, rodents, dogs, cats, horses, sheep, pigs, and the like.
용어 '개체'는 고형암으로 판정되거나, 의심되는 인간을 제외한 대상을 포함한다.The term 'subject' includes subjects other than humans diagnosed or suspected of having a solid cancer.
상기 방법은 고형암 환자의 총 생존율 또는 무병 생존율을 예측할 수 있다.The method can predict the overall survival or disease-free survival of patients with solid cancer.
본 발명에서 용어 '총 생존율(overall survival)'은 질환, 예컨대 암으로 진단되거나 그에 대해 치료된 후 한정된 시간 동안 살아 있는 환자를 기재하는 임상적 종점을 포함하며, 암의 재발 여부에 관계없이 생존하는 가능성을 의미한다.As used herein, the term 'overall survival' includes a clinical endpoint describing a patient who is alive for a finite time after being diagnosed with or treated for a disease, such as cancer, and the survival rate with or without cancer recurrence. means possibility.
본 발명에서 용어 '무병생존율(disease-free survival, DFS)'는 특정 질환(예를 들어 암)에 대한 치료 후 암의 재발 없이 환자가 생존하는 기간을 포함한다.In the present invention, the term 'disease-free survival (DFS)' includes a period in which a patient survives without cancer recurrence after treatment for a specific disease (eg, cancer).
본 발명은 고형암 환자의 샘플에서 본 발명의 유전자의 돌연변이의 존재를 분석함으로써 대상 시료를 가진 개체가 암에 대해 어떤 예후를 가지는지를 확인할 수 있다. 또한 이러한 방법은 예후가 좋다고 알려진 돌연변이가 존재하지 않는 대조군의 개체의 총 생존율 또는 무병 생존율을 비교함으로써 달성될 수 있다. 본 발명에서 예후가 좋다고 알려진 개체란 암이 발병한 후에 전이, 재발, 사망 등의 이력이 없는 개체를 의미한다.In the present invention, by analyzing the presence of a mutation in the gene of the present invention in a sample of a solid cancer patient, it is possible to determine what prognosis an individual having the target sample has for cancer. This method can also be achieved by comparing the total survival or disease-free survival of subjects in a control group that does not have a mutation known to have a good prognosis. In the present invention, an individual known to have a good prognosis means an individual who has no history of metastasis, recurrence, death, etc. after cancer has developed.
암이 의심되는 개체의 샘플이란 암 또는 종양이 이미 발생하였거나 발생할 것으로 예상되는 개체 또는 조직의 시료로써, 그 예후를 진단하고자 하는 대상 시료를 의미한다.A sample of an individual suspected of having cancer refers to a sample of an individual or tissue in which cancer or tumor has already occurred or is expected to occur, and is a target sample for diagnosing the prognosis.
상기 고형암 환자의 전이기간에 따른 고형암의 예후 진단을 위해 필요한 정보를 제공하는 방법은 고형암 환자의 총 생존율 또는 무병 생존율을 예측할 수 있다. 예를 들면, 상기 방법은 CREBBP, ESR1, GATA3, H3F3B 및 MYD88를 암호화하는 유전자에서 돌연변이가 확인되고, 고형암 환자인 경우, 상기 고형암 환자의 생존율이 상기 유전자에서 돌연변이가 확인되지 않은 사람의 생존율보다 낮거나, 상기 고형암 환자의 고형암의 재발율이 상기 유전자에서 돌연변이가 확인되지 않은 사람의 고형암의 재발율보다 높은 것으로 판단하는 단계; 를 더 포함할 수 있다.The method of providing information necessary for prognostic diagnosis of solid cancer according to the metastasis period of the solid cancer patient can predict the total survival rate or disease-free survival rate of the solid cancer patient. For example, in the method, a mutation is identified in a gene encoding CREBBP, ESR1, GATA3, H3F3B and MYD88, and in the case of a solid cancer patient, the survival rate of the solid cancer patient is lower than the survival rate of a person in which the mutation is not identified in the gene. or, determining that the recurrence rate of solid cancer of the solid cancer patient is higher than that of solid cancer of a person whose mutation is not confirmed in the gene; may further include.
이와 같이, CREBBP, ESR1, GATA3, H3F3B 및 MYD88에 대한 본 발명의 돌연변이를 이용하여 암, 특히 고형암의 발병 전이기간에 따라 유전자 변이에 차이가 있다는 내용에 대해서는 아직까지 밝혀진 바 없다. 아울러, 본 발명의 돌연변이를 이용하여 특정 전이기간에서 고형암에 대한 예후를 진단 가능하다는 내용에 대해서는 아직까지 밝혀진 바가 없다. 또한, 각 유전자에서 총 생존율 또는 무병 생존율이 상이할 수 있는 점에 대해서도 보고된 바 없다. 본 발명자들은 상기 유전자들의 돌연변이를 고형암 환자의 전이기간에 따른 고형암 치료 효과의 차이를 예측하거나, 고형암 환자의 예후를 진단할 수 있는 진단 표지자로 사용할 수 있는 점을 최초로 규명하였다.As such, using the mutations of the present invention for CREBBP, ESR1, GATA3, H3F3B and MYD88, the content that there is a difference in gene mutation according to the onset and metastasis period of cancer, particularly solid cancer, has not been revealed yet. In addition, it has not yet been revealed that the prognosis for solid cancer can be diagnosed in a specific metastasis period using the mutation of the present invention. In addition, it has not been reported that the total survival rate or disease-free survival rate may be different for each gene. The present inventors have identified for the first time that mutations in the above genes can be used as diagnostic markers for predicting the difference in the treatment effect of solid cancer according to the metastasis period of the solid cancer patient or diagnosing the prognosis of the solid cancer patient.
본 발명의 고형암 환자의 전이기간에 따른 고형암 치료 효과의 차이를 예측하기 위해 필요한 정보를 제공하는 방법은 전이기간에 기반하여 고형암의 유전자 변이를 진단하거나, 고형암 환자의 생존율을 높이거나, 또는 재발율을 낮추는데 사용될 수 있다. 본 발명의 고형암의 예후 진단에 대한 방법을 통해, 고형암의 발병 전이기간에 따른 유전자의 돌연변이 발생 정보를 이용해 고형암의 치료 효과를 예측하거나, 고형암 환자의 생존율 또는 재발율을 예측할 수 있으므로, 각 환자에 적합한 치료제 발굴뿐만 아니라, 치료법 선택에 있어 정보를 제공할 수 있어, 고형암에 관한 치료적 전략을 효율적으로 설계할 수 있다.The method for providing information necessary for predicting the difference in the treatment effect of solid cancer according to the metastasis period of the solid cancer patient of the present invention is to diagnose the genetic mutation of the solid cancer based on the metastasis period, increase the survival rate of the solid cancer patient, or reduce the recurrence rate It can be used to lower Through the method for prognostic diagnosis of solid cancer of the present invention, it is possible to predict the therapeutic effect of solid cancer, or the survival or recurrence rate of solid cancer patients, using information on gene mutations according to the onset and metastasis period of solid cancer. It can provide information not only in the discovery of therapeutic agents, but also in the selection of therapies, so that it is possible to efficiently design a therapeutic strategy for solid cancer.
이하, 본 발명을 실시예에 의해 상세히 설명한다.Hereinafter, the present invention will be described in detail by way of Examples.
단, 하기 실시예는 본 발명을 예시하기 위한 것일 뿐, 본 발명의 내용이 하기 실시예에 의해 한정되는 것은 아니다.However, the following examples are only for illustrating the present invention, and the content of the present invention is not limited by the following examples.
[실시예][Example]
실시예 1. 유전 정보 및 임상 정보의 확보Example 1. Securing genetic information and clinical information
본 발명의 유전자들(CREBBP, ESR1, GATA3, H3F3B 및 MYD88, 이하 '후보 유전자들'로도 기재함)을 전이기간에 따른 고형암 마커로서 활용할 수 있는지 여부를 확인하기 위하여, The Cancer Genome Atlas(TCGA)로부터 유전 정보와 임상 정보가 모두 확보되어 있는 전이성 고형암 환자 500명의 전이기간(gender), 전이기간(metastatic interval), 연령(age)에 관한 데이터를 입수하여 분석에 이용하였다. 하기 표 1에 고형암 환자의 성별, 전이기간(전이가 발생한 시점)에 관한 데이터를 나타낸다. 위 후보 유전자들은 전이기간에 따라 고형암 환자에서 돌연변이가 발생했던 유전자들이다.In order to check whether the genes of the present invention (CREBBP, ESR1, GATA3, H3F3B and MYD88, hereinafter also referred to as 'candidate genes') can be used as solid cancer markers according to the metastasis period, The Cancer Genome Atlas (TCGA) Data on the gender, metastatic interval, and age of 500 patients with metastatic solid cancer for whom both genetic and clinical information were secured were obtained and used for analysis. Table 1 below shows data on the sex and metastasis period (time metastasis occurred) of solid cancer patients. The above candidate genes are genes that have been mutated in solid cancer patients according to the metastasis period.
합계Sum
환자 수(명)Number of patients (persons) 비율(%)ratio(%)
성별 gender MaleMale 259259 51.851.8
FemaleFemale 241241 48.248.2
전이기간transition period ≤12≤12 144144 28.828.8
13~3613-36 150150 3030
37~12037-120 137137 27.427.4
≥121≥121 6969 13.813.8
연령age ≤50≤50 140140 2828
51~6051 to 60 132132 26.426.4
61~7061-70 165165 3333
≥71≥71 6363 12.612.6
총 환자 수total number of patients 500 명500 people
실시예 2. 전이기간 특이적 마커로서 활용성 확인Example 2. Confirmation of utility as a metastasis period-specific marker
TCGA 보고된 고형암 환자 500명 중 전이기간에 따라 분류한 그룹 Ⅰ(12개월 이하), 그룹 II(13 내지 36개월), 그룹 III(37 내지 120개월), 그룹 IV(121개월 이상)인 4 그룹으로 분류하여 하기 표 2에 나타내었다.Of the 500 patients with TCGA-reported solid cancer, 4 groups were group I (12 months or less), group II (13-36 months), group III (37-120 months), and group IV (121 months or longer) classified according to metastasis period. classified as shown in Table 2 below.
전이기간 그룹 간 비교Comparison between groups in the transition period
테스트 세트 종류test set type 세부 사항Detail 비고note
테스트 세트 1test set 1 전이기간 Ⅰ vs Ⅱ vs Ⅲ vs ⅣTransition period Ⅰ vs Ⅱ vs Ⅲ vs Ⅳ 전이기간 비교분석(12개월이하 vs 13~36개월 vs 37~120개월 vs 121개월이상 환자)Comparative analysis of metastasis period (less than 12 months vs 13-36 months vs 37-120 months vs 121 months or more)
테스트 세트 2test set 2 전이기간 Ⅰ vs Ⅱ + Ⅲ + ⅣTransition period Ⅰ vs Ⅱ + Ⅲ + Ⅳ 12개월이하 vs 13개월이상 환자 비교분석Comparative analysis of patients under 12 months vs. over 13 months
테스트 세트 3test set 3 전이기간 Ⅰ + Ⅱ vs Ⅲ + ⅣTransition period Ⅰ + Ⅱ vs Ⅲ + Ⅳ 36개월이하 vs 37개월이상 환자 비교분석Comparative analysis of patients under 36 months vs. over 37 months
테스트 세트 4test set 4 전이기간 Ⅰ + Ⅱ + Ⅲ vs ⅣTransition period Ⅰ + Ⅱ + Ⅲ vs Ⅳ 120개월이하 vs 121개월이상 환자 비교분석Comparative analysis of patients under 120 months vs. over 121 months
전이기간 그룹간 비교 분석 결과Results of comparative analysis between groups in the transition period
테스트 세트 종류test set type 전이기간 특이적 유전자Transition period-specific genes
전이기간 ⅠTransition period Ⅰ A2M, ADAMTSL5, ARL2BP, B4GALT3, BHLHE22, C11orf54, C8orf34, CCDC14, CCNJL, CD109, CERCAM, CFAP57, CLEC4G, CPO, CTNNBL1, DCAF13, DNAH1, DNAH9, ENG, ESR1, FGG, GATA3, GDA, GLI4, GMPPA, HNRNPA0, HOXC10, ICAM5, IL6ST, ITGB3, KCNK2, KRTAP5-2, LAMC3, LILRB4, MMP16, MRPS9, MYD88, MYH7B, NIPAL3, NUP58, OR4D10, P4HB, PCDHA12, PNPT1, PPP1R15A, PPP1R9A, PRKCD, RIPPLY2, RLN1, RNF6, SCML4, STAT4, STK38L, TGM4, TIE1, TMEM229A, TMPRSS13, UNKL, VPS37D, ZBTB17, ZC3H3, ZNF730, ZNF783A2M, ADAMTSL5, ARL2BP, B4GALT3, BHLHE22, C11orf54, C8orf34, CCDC14, CCNJL, CD109, CERCAM, CFAP57, CLEC4G, CPO, CTNNBL1, DCAF13, DNAH1, DNAH9, ENG, ESR1, GDA, GLI4, GMPPA3, FGG, GATA3, FGG, HNRNPA0, HOXC10, ICAM5, IL6ST, ITGB3, KCNK2, KRTAP5-2, LAMC3, LILRB4, MMP16, MRPS9, MYD88, MYH7B, NIPAL3, NUP58, OR4D10, P4HB, PCDHA12, PNPT1, PPP1R15A RL PPP1R15A RL PPP1R15 RNF6, SCML4, STAT4, STK38L, TGM4, TIE1, TMEM229A, TMPRSS13, UNKL, VPS37D, ZBTB17, ZC3H3, ZNF730, ZNF783
전이기간 ⅡTransition period Ⅱ A2M, ADAMTSL2, ADAMTSL5, ADCK5, ADRA2C, AHCY, AIMP2, ALKBH3, AQP11, ARMC10, ASPHD2, C11orf87, C14orf28, C20orf144, C2orf68, CCDC152, CCT5, CDKL1, CEP85, CERCAM, CLEC4G, CPO, CTSO, CYP26C1, DCPS, DNAH1, ENO3, EPS15, ETV7, FAM131B, FAM113A, FAM221A, FAM227B, FBXO32, FEZF1, GJC3, GLCCI1, GPC1, GPR87, GPR88, GREB1, GRN, GYS2, H3F3B, HOXD12, HPGDS, HSPA12B, IER5L, IL22, INTS6L, KAZALD1, KCNK9, KIAA1524, KRT17, KRT39, LAS1L, MAT1A, MBOAT7, MED16, MFSD6, MRM2, NEDD1, NNMT, NUP58, OR1L8, OR1N2, OR2AK2, OR5H15, OR5L1, PARVB, PLEKHO2, PNPT1, POU4F1, PPM1H, PREPL, SAG, SLC43A1, SPDYA, STXBP2, SYTL1, TBL1X, TIE1, TMEM229A, TMPRSS113, TRAPPC5, TTC22, UNC5A, UNC5D, VRK3, ZNF730A2M, ADAMTSL2, ADAMTSL5, ADCK5, ADRA2C, AHCY, AIMP2, ALKBH3, AQP11, ARMC10, ASPHD2, C11orf87, C14orf28, C20orf144, C2orf68, CCDC152, CCTSO CCT5, CDKL1, CEP85, CERCAM, DC CLPSCY4G, CERCAM DNAH1, ENO3, EPS15, ETV7, FAM131B, FAM113A, FAM221A, FAM227B, FBXO32, FEZF1, GJC3, GLCCI1, GPC1, GPR87, GPR88, GREB1, GRN, GYS2, H3F3B, HOXD12, HPGDS, IERHS5 KAZALD1, KCNK9, KIAA1524, KRT17, KRT39, LAS1L, MAT1A, MBOAT7, MED16, MFSD6, MRM2, NEDD1, NNMT, NUP58, OR1L8, OR1N2, OR2PTAK1, OR5H15, OR5L1, PARREVB, POUPL, PPLEKHOREV, POUPL SAG, SLC43A1, SPDYA, STXBP2, SYTL1, TBL1X, TIE1, TMEM229A, TMPRSS113, TRAPPC5, TTC22, UNC5A, UNC5D, VRK3, ZNF730
전이기간 Ⅲtransition period Ⅲ AAK1, ANO9, ASPDH, B4GALT3, BHLHE22, CCNJL, CR1, CREBBP, DNAH9, ESR1, FXR1, FZD1, GATA3, GDA, GLI4, GMPPA, HIST2H2BE, HNRNPA0, IGF2R, LILRB4, LRRIQ4, METTL13, MXI1, NUP133, OR4D10, SCNN1D, STAT4, STK38L, TMEM117, TMEM229A, UBD, UNKL, ZC3H3AAK1, ANO9, ASPDH, B4GALT3, BHLHE22, CCNJL, CR1, CREBBP, DNAH9, ESR1, FXR1, FZD1, GATA3, GDA, GLI4, GMPPA, HIST2H2BE, HNRNPA0, IGF2R, LILRB4, ORLRRIQ104, METTL13, MXI4D104, METTL13, SCNN1D, STAT4, STK38L, TMEM117, TMEM229A, UBD, UNKL, ZC3H3
전이기간 ⅣTransition period Ⅳ NANA
2-1. 각 그룹간 비교 분석(테스트 세트 1 - 전이기간 I vs Ⅱ vs Ⅲ vs Ⅳ)2-1. Comparative analysis between each group (test set 1 - transition period I vs Ⅱ vs Ⅲ vs Ⅳ)
표 2에서 그룹별로 구분된 4개의 전이기간 그룹 각각에 대하여, 후보 유전자들의 돌연변이 발생과 전이성 고형암 환자의 전이기간과의 연관성을 확인하였다. 0.05 미만의 P-value를 통계적으로 유의한 것으로 간주하여 전이기간 특이적 마커로 발굴 하였다. 하기 표3 내지 6에 테스트 세트 1에 관련된 후보 유전자들의 정보를 나타낸다.In Table 2, for each of the four metastasis period groups divided by group, the association between the occurrence of mutations in candidate genes and the metastasis period of metastatic solid cancer patients was confirmed. A P-value of less than 0.05 was considered as statistically significant and excavated as a metastasis period-specific marker. Tables 3 to 6 below show information on candidate genes related to test set 1.
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher (p-value)Fisher (p-value)
절단cut 미스센스missense 인프레임in-frame 기타Etc ⅠI IIII IIIIII IVIV
A2MA2M 1717 3.40 3.40 12p13.3112p13.31 66 1111 00 00 00 1010 77 00 0.00091430.0009143
ADAMTSL5ADAMTSL5 55 1.00 1.00 19p13.319p13.3 22 33 00 00 55 00 00 00 0.0048520.004852
ARL2BPARL2BP 22 0.40 0.40 16q1316q13 1One 1One 00 00 00 00 00 22 0.018810.01881
B4GALT3B4GALT3 44 0.80 0.80 1q23.31q23.3 1One 33 00 00 00 00 44 00 0.014570.01457
BHLHE22BHLHE22 44 0.80 0.80 8q12.38q12.3 00 22 22 00 00 00 44 00 0.014570.01457
C11orf54C11orf54 22 0.40 0.40 11q2111q21 00 22 00 00 00 00 00 22 0.018810.01881
C8orf34C8orf34 66 1.20 1.20 8q13.28q13.2 00 66 00 00 00 66 00 00 0.0030980.003098
CCDC14CCDC14 55 1.00 1.00 3q21.13q21.1 22 33 00 00 22 00 00 33 0.0088780.008878
CCNJLCCNJL 44 0.80 0.80 5q33.35q33.3 00 44 00 00 00 00 1One 33 0.0031260.003126
CD109CD109 1010 2.00 2.00 6q136q13 22 88 00 00 1One 55 00 44 0.0082750.008275
CERCAMCERCAM 77 1.40 1.40 9q34.119q34.11 1One 66 00 00 66 00 1One 00 0.015490.01549
CFAP57CFAP57 77 1.40 1.40 1p34.21p34.2 00 77 00 00 00 44 00 33 0.0060010.006001
CLEC4GCLEC4G 44 0.80 0.80 19p13.219p13.2 22 22 00 00 44 00 00 00 0.021250.02125
CPOCPO 55 1.00 1.00 2q33.32q33.3 22 33 00 00 55 00 00 00 0.0048520.004852
CTNNBL1CTNNBL1 55 1.00 1.00 20q11.2320q11.23 00 44 1One 00 22 00 00 33 0.0088780.008878
DCAF13DCAF13 99 1.80 1.80 8q22.38q22.3 22 77 00 00 00 77 22 00 0.011430.01143
DDIT3DDIT3 44 0.80 0.80 12q13.312q13.3 00 22 00 22 00 1One 1One 22 0.1330.133
DNAH1DNAH1 3030 6.00 6.00 3p21.13p21.1 55 2525 00 00 1717 33 77 33 0.0048470.004847
DNAH9DNAH9 4545 9.00 9.00 17p1217p12 99 3636 00 00 1616 2323 66 00 0.000087150.00008715
DNAJC4DNAJC4 1One 0.20 0.20 11q13.111q13.1 00 1One 00 00 00 00 00 1One 0.1380.138
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher (p-value)Fisher (p-value)
절단cut 미스센스missense 인프레임in-frame 기타Etc ⅠI IIII IIIIII IVIV
ENGENG 55 1.00 1.00 9q34.119q34.11 00 55 00 00 00 55 00 00 0.013490.01349
ESR1ESR1 2020 4.00 4.00 6q25.1-q25.26q25.1-q25.2 33 1717 00 00 33 00 66 1111 0.000001170.00000117
FGGFGG 22 0.40 0.40 4q32.14q32.1 22 00 00 00 00 00 00 22 0.018810.01881
GATA3GATA3 88 1.60 1.60 10p1410p14 44 44 00 00 00 1One 33 44 0.0078050.007805
GDAGDA 77 1.40 1.40 9q21.139q21.13 00 77 00 00 00 00 66 1One 0.0024150.002415
GLI4GLI4 44 0.80 0.80 8q24.38q24.3 00 44 00 00 00 00 44 00 0.014570.01457
GMPPAGMPPA 44 0.80 0.80 2q352q35 00 44 00 00 00 00 44 00 0.014570.01457
HNRNPA0HNRNPA0 55 1.00 1.00 5q31.25q31.2 1One 33 1One 00 00 00 55 00 0.0029670.002967
HOXC10HOXC10 55 1.00 1.00 12q13.1312q13.13 1One 44 00 00 1One 00 00 44 0.00099580.0009958
ICAM5ICAM5 77 1.40 1.40 19p13.219p13.2 22 55 00 00 44 00 00 33 0.0046230.004623
IL6STIL6ST 66 1.20 1.20 5q11.25q11.2 1One 55 00 00 00 66 00 00 0.0030980.003098
ITGB3ITGB3 1111 2.20 2.20 17q21.3217q21.32 1One 1010 00 00 1One 88 22 00 0.030130.03013
KCNK2KCNK2 33 0.60 0.60 1q411q41 00 33 00 00 00 00 00 33 0.002530.00253
KRTAP5-2KRTAP5-2 66 1.20 1.20 11p15.511p15.5 00 00 66 00 00 1One 1One 44 0.0047520.004752
LAMC3LAMC3 1010 2.00 2.00 9q34.129q34.12 00 1010 00 00 00 99 1One 00 0.00073160.0007316
LILRB4LILRB4 1414 2.80 2.80 19q13.4219q13.42 1One 1313 00 00 33 1010 1One 00 0.0088550.008855
MMP16MMP16 1111 2.20 2.20 8q21.38q21.3 33 88 00 00 00 88 1One 22 0.0045110.004511
MRPS9MRPS9 22 0.40 0.40 2q12.12q12.1 00 22 00 00 00 00 00 22 0.018810.01881
MYD88MYD88 22 0.40 0.40 3p22.23p22.2 1One 1One 00 00 00 00 00 22 0.018810.01881
MYH7BMYH7B 1010 2.00 2.00 20q11.2220q11.22 1One 88 1One 00 77 33 00 00 0.014970.01497
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher (p-value)Fisher (p-value)
절단cut 미스센스missense 인프레임in-frame 기타Etc ⅠI IIII IIIIII IVIV
NIPAL3NIPAL3 44 0.80 0.80 1p36.111p36.11 1One 33 00 00 00 00 44 00 0.014570.01457
NUP58NUP58 55 1.00 1.00 13q12.1313q12.13 33 22 00 00 55 00 00 00 0.0048520.004852
OR4D10OR4D10 1212 2.40 2.40 11q12.111q12.1 22 1010 00 00 22 00 66 44 0.0056950.005695
P4HBP4HB 44 0.80 0.80 17q25.317q25.3 44 00 00 00 00 00 1One 33 0.0031260.003126
PCDHA12PCDHA12 1313 2.60 2.60 5q31.35q31.3 00 1313 00 00 55 88 00 00 0.0076540.007654
PIM1PIM1 22 0.40 0.40 6p21.26p21.2 00 22 00 00 00 00 22 00 0.093480.09348
PNPT1PNPT1 77 1.40 1.40 2p16.12p16.1 22 55 00 00 66 1One 00 00 0.016610.01661
PPP1R15APPP1R15A 66 1.20 1.20 19q13.3319q13.33 22 44 00 00 00 33 00 33 0.010490.01049
PPP1R9APPP1R9A 88 1.60 1.60 7q21.37q21.3 22 66 00 00 00 77 00 1One 0.0029290.002929
PRKCDPRKCD 44 0.80 0.80 3p21.13p21.1 1One 33 00 00 00 00 44 00 0.014570.01457
PROZPROZ 22 0.40 0.40 13q3413q34 00 22 00 00 00 00 22 00 0.093480.09348
RIPPLY2RIPPLY2 22 0.40 0.40 6q14.26q14.2 00 22 00 00 00 00 00 22 0.018810.01881
RLN1RLN1 44 0.80 0.80 9p24.19p24.1 1One 33 00 00 00 00 44 00 0.014570.01457
RNF6RNF6 66 1.20 1.20 13q12.1313q12.13 22 44 00 00 22 00 00 44 0.0014310.001431
RSPH6ARSPH6A 77 1.40 1.40 19q13.3219q13.32 1One 66 00 00 22 55 00 00 0.10030.1003
SCML4SCML4 44 0.80 0.80 6q216q21 00 44 00 00 00 00 44 00 0.014570.01457
STAT4STAT4 88 1.60 1.60 2q32.2-q32.32q32.2-q32.3 1One 77 00 00 1One 00 33 44 0.0072120.007212
STK38LSTK38L 88 1.60 1.60 12p11.2312p11.23 22 66 00 00 00 1One 33 44 0.0078050.007805
TGM4TGM4 77 1.40 1.40 3p21.313p21.31 22 55 00 00 00 66 00 1One 0.0052870.005287
TIE1TIE1 77 1.40 1.40 1p34.21p34.2 00 77 00 00 66 1One 00 00 0.016610.01661
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher (p-value)Fisher (p-value)
절단cut 미스센스missense 인프레임in-frame 기타Etc ⅠI IIII III III IVIV
TMEM229ATMEM229A 88 1.60 1.60 7q31.327q31.32 00 33 55 00 88 00 00 00 0.00019480.0001948
TMPRSS13TMPRSS13 1212 2.40 2.40 11q23.311q23.3 00 1010 22 00 99 22 1One 00 0.0087590.008759
UNKL UNKL 66 1.20 1.20 16p13.316p13.3 33 33 00 00 00 00 33 33 0.0066810.006681
VPS37D VPS37D 22 0.40 0.40 7q11.237q11.23 00 22 00 00 00 00 00 22 0.018810.01881
ZBTB17 ZBTB17 66 1.20 1.20 1p36.131p36.13 1One 55 00 00 00 66 00 00 0.0030980.003098
ZC3H3 ZC3H3 88 1.60 1.60 8q24.38q24.3 00 77 1One 00 1One 00 33 44 0.0072120.007212
ZNF730 ZNF730 77 1.40 1.40 19p1219p12 1One 66 00 00 66 00 1One 00 0.015490.01549
ZNF783 ZNF783 44 0.80 0.80 7q36.17q36.1 1One 33 00 00 00 44 00 00 0.029120.02912
분석 결과, 각 전이기간 그룹에서 돌연변이가 있는 유전자이더라도 다른 그룹과 비교하였을 때 P-value가 0.05 이상으로 나타난 유전자가 있는 한편, 돌연변이가 있으면서, P-value가 0.05 미만으로 나타난 유전자가 확인되었다. 다른 그룹과 비교하였을 때 P-value가 0.05 미만인 돌연변이 유전자들은 다른 그룹에 비해서 특정 전이기간과 상호 관련성이 있는 것이므로 전이기간 특이적 유전자로 정하였고, 도 1a 내지 1c에 전이기간 그룹별 돌연변이 발생 정도를 나타내었다.As a result of the analysis, in each transition period group, there were genes with a P-value of 0.05 or more when compared with other groups, even if they had a mutation, while genes with a mutation and a P-value of less than 0.05 were identified. Mutant genes with a P-value of less than 0.05 compared to other groups were correlated with a specific transition period compared to other groups, so they were defined as transition period-specific genes. indicated.
2-2. 12개월 전후 비교분석 (테스트 세트 2 - 전이기간 그룹 Ⅰ vs Ⅱ+ III + Ⅳ)2-2. Comparative analysis before and after 12 months (test set 2 - transition period group Ⅰ vs Ⅱ+ III + Ⅳ)
표 2에서 그룹별로 구분된 4개의 전이기간 그룹 중, 12개월 이하(Ⅰ)와 13개월 이상(Ⅱ+III+Ⅳ)인 그룹에 대하여, 후보 유전자들의 돌연변이 발생과 고형암 환자의 전이기간과의 연관성을 확인하였다. 0.05 미만의 P-value를 통계적으로 유의한 것으로 간주하여 전이기간 특이적 마커로 발굴 하였다. 하기 표 7 내지 11에 테스트 세트 2에 관련된 후보 유전자들의 정보를 나타낸다.Among the four metastasis period groups divided by group in Table 2, for the group with less than 12 months (I) and more than 13 months (II+III+IV), the association between the occurrence of mutations in candidate genes and the metastasis period of solid cancer patients was confirmed. A P-value of less than 0.05 was considered as statistically significant and excavated as a metastasis period-specific marker. Information on candidate genes related to test set 2 is shown in Tables 7 to 11 below.
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher's exact (P-Value)Fisher's exact (P-Value)
절단cut 미스센스missense 인프레임in-frame 기타Etc ⅠI Ⅱ+ III+ⅣII+ III+IV Ⅱ+ III+Ⅳ(%)Ⅱ+ III+IV (%)
A2MA2M 1717 3.4 3.4 12p13.3112p13.31 66 1111 00 00 00 1717 100.0 100.0 0.0050.005
ADAMTSL2ADAMTSL2 33 0.6 0.6 9q34.29q34.2 1One 22 00 00 33 00 0.0 0.0 0.0250.025
ADAMTSL5ADAMTSL5 55 1.0 1.0 19p13.319p13.3 22 33 00 00 55 00 0.0 0.0 0.0020.002
ADCK5ADCK5 33 0.6 0.6 8q24.38q24.3 00 33 00 00 33 00 0.0 0.0 0.0250.025
ADRA2CADRA2C 33 0.6 0.6 4p16.34p16.3 00 22 1One 00 33 00 0.0 0.0 0.0250.025
AHCYAHCY 44 0.8 0.8 20q11.2220q11.22 00 44 00 00 44 00 0.0 0.0 0.0070.007
AIMP2AIMP2 55 1.0 1.0 7p22.17p22.1 1One 44 00 00 55 00 0.0 0.0 0.0020.002
ALKBH3ALKBH3 33 0.6 0.6 11p11.211p11.2 1One 22 00 00 33 00 0.0 0.0 0.0250.025
AQP11AQP11 33 0.6 0.6 11q14.111q14.1 00 22 00 1One 33 00 0.0 0.0 0.0250.025
ARMC10ARMC10 33 0.6 0.6 7q22.17q22.1 00 33 00 00 33 00 0.0 0.0 0.0250.025
ASPHD2ASPHD2 33 0.6 0.6 22q12.122q12.1 00 33 00 00 33 00 0.0 0.0 0.0250.025
AXIN1AXIN1 55 1.0 1.0 16p13.316p13.3 00 33 00 22 33 22 40.0 40.0 0.150.15
C11orf87C11orf87 33 0.6 0.6 11q22.311q22.3 00 33 00 00 33 00 0.0 0.0 0.0250.025
C14orf28C14orf28 33 0.6 0.6 14q21.214q21.2 22 1One 00 00 33 00 0.0 0.0 0.0250.025
C20orf144C20orf144 33 0.6 0.6 20q11.2220q11.22 00 33 00 00 33 00 0.0 0.0 0.0250.025
C2orf68C2orf68 33 0.6 0.6 2p11.22p11.2 1One 22 00 00 33 00 0.0 0.0 0.0250.025
CCDC152CCDC152 33 0.6 0.6 5p125p12 22 1One 00 00 33 00 0.0 0.0 0.0250.025
CCT5CCT5 66 1.2 1.2 5p15.25p15.2 33 33 00 00 55 1One 16.7 16.7 0.010.01
CDKL1CDKL1 33 0.6 0.6 14q21.314q21.3 1One 22 00 00 33 00 0.0 0.0 0.0250.025
CEP85CEP85 33 0.6 0.6 1p36.111p36.11 1One 22 00 00 33 00 0.0 0.0 0.0250.025
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher's exact (P-Value)Fisher's exact (P-Value)
절단cut 미스센스missense 인프레임in-frame 기타Etc ⅠI Ⅱ+ III+ⅣII+ III+IV Ⅱ+ III+(Ⅳ%)Ⅱ+ III+(IV%)
CERCAMCERCAM 77 1.4 1.4 9q34.119q34.11 1One 66 00 00 66 1One 14.3 14.3 0.0030.003
CLEC4GCLEC4G 44 0.8 0.8 19p13.219p13.2 22 22 00 00 44 00 0.0 0.0 0.0070.007
COX11COX11 22 0.4 0.4 17q2217q22 00 22 00 00 22 00 0.0 0.0 0.0840.084
CPOCPO 55 1.0 1.0 2q33.32q33.3 22 33 00 00 55 00 0.0 0.0 0.0020.002
CTSOCTSO 33 0.6 0.6 4q32.14q32.1 00 33 00 00 33 00 0.0 0.0 0.0250.025
CYP26C1CYP26C1 33 0.6 0.6 10q23.3310q23.33 22 1One 00 00 33 00 0.0 0.0 0.0250.025
DCPSDCPS 44 0.8 0.8 11q24.211q24.2 00 33 00 1One 44 00 0.0 0.0 0.0070.007
DNAH1DNAH1 3030 6.0 6.0 3p21.13p21.1 55 2525 00 00 1717 1313 43.3 43.3 0.0030.003
DUSP13DUSP13 22 0.4 0.4 10q22.210q22.2 00 22 00 00 22 00 0.0 0.0 0.0840.084
ENO3ENO3 33 0.6 0.6 17p13.217p13.2 22 1One 00 00 33 00 0.0 0.0 0.0250.025
EPS15EPS15 33 0.6 0.6 1p32.31p32.3 00 33 00 00 33 00 0.0 0.0 0.0250.025
ERFEERFE 22 0.4 0.4 2q37.32q37.3 00 22 00 00 22 00 0.0 0.0 0.0840.084
ETV7ETV7 33 0.6 0.6 6p21.316p21.31 00 33 00 00 33 00 0.0 0.0 0.0250.025
FAM131BFAM131B 44 0.8 0.8 7q347q34 1One 33 00 00 44 00 0.0 0.0 0.0070.007
FAM133AFAM133A 33 0.6 0.6 Xq21.32Xq21.32 22 1One 00 00 33 00 0.0 0.0 0.0250.025
FAM221AFAM221A 33 0.6 0.6 7p15.37p15.3 1One 22 00 00 33 00 0.0 0.0 0.0250.025
FAM227BFAM227B 33 0.6 0.6 15q21.215q21.2 00 33 00 00 33 00 0.0 0.0 0.0250.025
FANCCFANCC 22 0.4 0.4 9q22.329q22.32 00 22 00 00 22 00 0.0 0.0 0.0840.084
FBXO32FBXO32 33 0.6 0.6 8q24.138q24.13 00 33 00 00 33 00 0.0 0.0 0.0250.025
FEZF1FEZF1 44 0.8 0.8 7q31.327q31.32 00 44 00 00 44 00 0.0 0.0 0.0070.007
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher's exact (P-Value)Fisher's exact (P-Value)
절단cut 미스센스missense 인프레임in-frame 기타Etc ⅠI Ⅱ+ III+ⅣII+ III+IV Ⅱ+ III+Ⅳ(%)Ⅱ+ III+IV (%)
FUSFUS 55 1.0 1.0 16p11.216p11.2 22 1One 00 22 33 22 40.0 40.0 0.150.15
GJC3GJC3 33 0.6 0.6 7q22.17q22.1 00 33 00 00 33 00 0.0 0.0 0.0250.025
GLCCI1GLCCI1 33 0.6 0.6 7p21.37p21.3 1One 22 00 00 33 00 0.0 0.0 0.0250.025
GPC1GPC1 33 0.6 0.6 2q37.32q37.3 00 33 00 00 33 00 0.0 0.0 0.0250.025
GPR87GPR87 33 0.6 0.6 3q25.13q25.1 00 33 00 00 33 00 0.0 0.0 0.0250.025
GPR88GPR88 33 0.6 0.6 1p21.21p21.2 00 33 00 00 33 00 0.0 0.0 0.0250.025
GREB1GREB1 2626 5.2 5.2 2p25.12p25.1 22 2222 1One 1One 1515 1111 42.3 42.3 0.0030.003
GRNGRN 44 0.8 0.8 17q21.3117q21.31 1One 33 00 00 44 00 0.0 0.0 0.0070.007
GYS2GYS2 33 0.6 0.6 12p12.112p12.1 1One 22 00 00 33 00 0.0 0.0 0.0250.025
H3F3BH3F3B 44 0.8 0.8 17q25.117q25.1 00 44 00 00 44 00 0.0 0.0 0.0070.007
HOXD12HOXD12 33 0.6 0.6 2q31.12q31.1 00 33 00 00 33 00 0.0 0.0 0.0250.025
HPGDSHPGDS 66 1.2 1.2 4q22.34q22.3 33 33 00 00 55 1One 16.7 16.7 0.010.01
HSPA12BHSPA12B 33 0.6 0.6 20p1320p13 00 33 00 00 33 00 0.0 0.0 0.0250.025
IER5LIER5L 33 0.6 0.6 9q34.119q34.11 1One 22 00 00 33 00 0.0 0.0 0.0250.025
IL22IL22 33 0.6 0.6 12q1512q15 1One 22 00 00 33 00 0.0 0.0 0.0250.025
INTS6LINTS6L 33 0.6 0.6 Xq26.3Xq26.3 00 33 00 00 33 00 0.0 0.0 0.0250.025
KAZALD1KAZALD1 33 0.6 0.6 10q24.3110q24.31 00 33 00 00 33 00 0.0 0.0 0.0250.025
KCNK9KCNK9 33 0.6 0.6 8q24.38q24.3 00 33 00 00 33 00 0.0 0.0 0.0250.025
KIAA1524KIAA1524 66 1.2 1.2 3q13.133q13.13 1One 55 00 00 55 1One 16.7 16.7 0.010.01
KRT17KRT17 55 1.0 1.0 17q21.217q21.2 22 33 00 00 55 00 0.0 0.0 0.0020.002
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher's exact (P-Value)Fisher's exact (P-Value)
절단cut 미스센스missense 인프레임in-frame 기타Etc ⅠI Ⅱ+ III+ⅣII+ III+IV Ⅱ+ III+Ⅳ(%)Ⅱ+ III+IV (%)
KRT39KRT39 33 0.6 0.6 17q21.217q21.2 00 33 00 00 33 00 0.0 0.0 0.0250.025
LAS1LLAS1L 33 0.6 0.6 Xq12Xq12 00 22 1One 00 33 00 0.0 0.0 0.0250.025
MAT1AMAT1A 33 0.6 0.6 10q22.310q22.3 1One 22 00 00 33 00 0.0 0.0 0.0250.025
MBOAT7MBOAT7 33 0.6 0.6 19q13.4219q13.42 00 33 00 00 33 00 0.0 0.0 0.0250.025
MED16MED16 77 1.4 1.4 19p13.319p13.3 1One 66 00 00 66 1One 14.3 14.3 0.0030.003
MFSD6MFSD6 44 0.8 0.8 2q32.22q32.2 00 44 00 00 44 00 0.0 0.0 0.0070.007
MRM2MRM2 33 0.6 0.6 7p22.37p22.3 00 33 00 00 33 00 0.0 0.0 0.0250.025
NEDD1NEDD1 66 1.2 1.2 12q23.112q23.1 22 44 00 00 55 1One 16.7 16.7 0.010.01
NNMTNNMT 44 0.8 0.8 11q23.211q23.2 22 22 00 00 44 00 0.0 0.0 0.0070.007
NUBP2NUBP2 22 0.4 0.4 16p13.316p13.3 00 22 00 00 22 00 0.0 0.0 0.0840.084
NUP58NUP58 55 1.0 1.0 13q12.1313q12.13 33 22 00 00 55 00 0.0 0.0 0.0020.002
OR1L8OR1L8 33 0.6 0.6 9q33.29q33.2 00 33 00 00 33 00 0.0 0.0 0.0250.025
OR1N2OR1N2 33 0.6 0.6 9q33.29q33.2 00 33 00 00 33 00 0.0 0.0 0.0250.025
OR2AK2OR2AK2 44 0.8 0.8 1q441q44 00 44 00 00 44 00 0.0 0.0 0.0070.007
OR5H15OR5H15 44 0.8 0.8 3q11.23q11.2 22 22 00 00 44 00 0.0 0.0 0.0070.007
OR5L1OR5L1 33 0.6 0.6 11q12.111q12.1 1One 22 00 00 33 00 0.0 0.0 0.0250.025
PARVBPARVB 33 0.6 0.6 22q13.3122q13.31 1One 22 00 00 33 00 0.0 0.0 0.0250.025
PLEKHO2PLEKHO2 33 0.6 0.6 15q22.3115q22.31 1One 22 00 00 33 00 0.0 0.0 0.0250.025
PNPT1PNPT1 77 1.4 1.4 2p16.12p16.1 22 55 00 00 66 1One 14.3 14.3 0.0030.003
POU4F1POU4F1 33 0.6 0.6 13q31.113q31.1 00 22 1One 00 33 00 0.0 0.0 0.0250.025
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher's exact (P-Value)Fisher's exact (P-Value)
절단cut 미스센스missense 인프레임in-frame 기타Etc ⅠI Ⅱ+ III +IVⅡ+ III +IV Ⅱ+III+IV(%)Ⅱ+III+IV(%)
PPM1HPPM1H 66 1.2 1.2 12q14.1-q14.212q14.1-q14.2 1One 55 00 00 55 1One 16.7 16.7 0.010.01
PREPLPREPL 44 0.8 0.8 2p212p21 00 44 00 00 44 00 0.0 0.0 0.0070.007
SAGSAG 44 0.8 0.8 2q37.12q37.1 1One 33 00 00 44 00 0.0 0.0 0.0070.007
SLC43A1SLC43A1 33 0.6 0.6 11q12.111q12.1 00 33 00 00 33 00 0.0 0.0 0.0250.025
SPDYASPDYA 44 0.8 0.8 2p23.22p23.2 1One 33 00 00 44 00 0.0 0.0 0.0070.007
STXBP2STXBP2 88 1.6 1.6 19p13.219p13.2 1One 77 00 00 77 1One 12.5 12.5 0.0010.001
SYTL1SYTL1 66 1.2 1.2 1p36.111p36.11 1One 55 00 00 55 1One 16.7 16.7 0.010.01
TBL1XTBL1X 44 0.8 0.8 Xp22.31-p22.2Xp22.31-p22.2 00 44 00 00 44 00 0.0 0.0 0.0070.007
TIE1TIE1 77 1.4 1.4 1p34.21p34.2 00 77 00 00 66 1One 14.3 14.3 0.0030.003
TMEM229ATMEM229A 88 1.6 1.6 7q31.327q31.32 00 33 55 00 88 00 0.0 0.0 0.0000560.000056
TMPRSS13TMPRSS13 1212 2.4 2.4 11q23.311q23.3 00 1010 22 00 99 33 25.0 25.0 0.0010.001
TRAPPC5TRAPPC5 44 0.8 0.8 19p13.219p13.2 00 44 00 00 44 00 0.0 0.0 0.0070.007
TTC22TTC22 44 0.8 0.8 1p32.31p32.3 00 44 00 00 44 00 0.0 0.0 0.0070.007
UNC5AUNC5A 44 0.8 0.8 5q35.25q35.2 00 44 00 00 44 00 0.0 0.0 0.0070.007
UNC5DUNC5D 1212 2.4 2.4 8p128p12 1One 1010 1One 00 00 1212 100.0 100.0 0.0240.024
VRK3VRK3 55 1.0 1.0 19q13.3319q13.33 00 55 00 00 44 1One 20.0 20.0 0.0280.028
ZNF730ZNF730 77 1.4 1.4 19p1219p12 1One 66 00 00 66 1One 14.3 14.3 0.0030.003
분석 결과, 각 전이기간 그룹에서 돌연변이가 있는 유전자이더라도 다른 그룹과 비교하였을 때 P-value가 0.05 이상으로 나타난 유전자가 있는 한편, 돌연변이가 있으면서, P-value가 0.05 미만으로 나타난 유전자가 확인되었다. 다른 그룹과 비교하였을 때 P-value가 0.05 미만인 돌연변이 유전자들은 다른 그룹에 비해서 특정 전이기간 그룹과 상호 관련성이 있는 것이므로 전이기간 특이적 유전자로 정하였고, 도 2a 내지 2e에 유전자의 돌연변이와 전이기간과의 연관성을 분석한 결과를 나타내었고, 12개월 전후 전이기간 특이적 전이성 고형암 환자의 마커 돌연변이에 대한 정보를 MSKCC에서 제공하는 데이터를 통해 확인하였다.As a result of the analysis, in each transition period group, there were genes with a P-value of 0.05 or more when compared with other groups, even if they had a mutation, while genes with a mutation and a P-value of less than 0.05 were identified. Mutant genes with a P-value of less than 0.05 compared to other groups were correlated with a specific transition period group compared to other groups, so they were defined as transition period-specific genes. The results of analyzing the association of
2-3. 36개월 전후 비교분석 (테스트 세트 3 - 전이기간 그룹 I + II vs III + Ⅳ)2-3. Comparative analysis before and after 36 months (test set 3 - transition period group I + II vs III + IV)
표 2에서 그룹별로 구분된 4개의 전이기간 그룹 중, 36개월 이하(Ⅰ + II)와 37개월 이상(III + IV)인 그룹에 대하여, 후보 유전자들의 돌연변이 발생과 고형암 환자의 전이기간과의 연관성을 확인하였다. 0.05 미만의 P-value를 통계적으로 유의한 것으로 간주하여 전이기간 특이적 마커로 발굴 하였다. 하기 표 12 내지 15에 테스트 세트 3에 관련된 후보 유전자들의 정보를 나타낸다.Among the four metastasis period groups divided by group in Table 2, for the group with less than 36 months (I + II) and longer than 37 months (III + IV), the association between the occurrence of mutations in candidate genes and the metastasis period of solid cancer patients was confirmed. A P-value of less than 0.05 was considered as statistically significant and excavated as a metastasis period-specific marker. Information on candidate genes related to test set 3 is shown in Tables 12 to 15 below.
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher's exact (P-Value)Fisher's exact (P-Value)
절단cut 미스센스missense 인프레임in-frame 기타Etc Ⅰ+ⅡⅠ+Ⅱ III+IVIII+IV III+IV(%)III+IV(%)
AAK1AAK1 44 0.8 0.8 2p13.32p13.3 00 44 00 00 00 44 100.0 100.0 0.030.03
ABCC9ABCC9 1515 3.0 3.0 12p12.112p12.1 1One 1414 00 00 77 88 53.3 53.3 0.4280.428
ADGRF5ADGRF5 1111 2.2 2.2 6p12.36p12.3 22 99 00 00 55 66 54.5 54.5 0.2780.278
ANO9ANO9 44 0.8 0.8 11p15.511p15.5 00 44 00 00 00 44 100.0 100.0 0.030.03
ASPDHASPDH 44 0.8 0.8 19q13.3319q13.33 1One 33 00 00 00 44 100.0 100.0 0.030.03
B4GALT3B4GALT3 44 0.8 0.8 1q23.31q23.3 1One 33 00 00 00 44 100.0 100.0 0.030.03
BHLHE22BHLHE22 44 0.8 0.8 8q12.38q12.3 00 22 22 00 00 44 100.0 100.0 0.030.03
CCNJLCCNJL 44 0.8 0.8 5q33.35q33.3 00 44 00 00 00 44 100.0 100.0 0.030.03
CDH22CDH22 1313 2.6 2.6 20q13.1220q13.12 00 1313 00 00 66 77 53.8 53.8 0.630.63
COL4A3COL4A3 1212 2.4 2.4 2q36.32q36.3 00 1212 00 00 66 66 50.0 50.0 0.3710.371
CR1CR1 99 1.8 1.8 1q32.21q32.2 00 99 00 00 22 77 77.8 77.8 0.0390.039
CREBBPCREBBP 2727 5.4 5.4 16p13.316p13.3 44 1818 22 33 1111 1616 59.3 59.3 0.050.05
DNAH9DNAH9 4545 9.0 9.0 17p1217p12 99 3636 00 00 1616 2929 64.4 64.4 0.0040.004
ELFN2ELFN2 1111 2.2 2.2 22q13.122q13.1 00 1111 00 00 55 66 54.5 54.5 0.2780.278
EMILIN3EMILIN3 88 1.6 1.6 20q1220q12 1One 77 00 00 22 66 75.0 75.0 0.0730.073
ESR1ESR1 2020 4.0 4.0 6q25.1-q25.26q25.1-q25.2 33 1717 00 00 33 1717 85.0 85.0 0.0001130.000113
FLI1FLI1 33 0.6 0.6 11q24.311q24.3 00 33 00 00 00 33 100.0 100.0 0.710.71
FMNL3FMNL3 88 1.6 1.6 12q13.1212q13.12 1One 77 00 00 44 44 50.0 50.0 0.7230.723
FXR1FXR1 66 1.2 1.2 3q26.333q26.33 1One 44 00 1One 1One 55 83.3 83.3 0.0480.048
FZD1FZD1 55 1.0 1.0 7q21.137q21.13 00 33 22 00 00 55 100.0 100.0 0.0120.012
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher's exact (P-Value)Fisher's exact (P-Value)
절단cut 미스센스missense 인프레임in-frame 기타Etc Ⅰ+ⅡⅠ+Ⅱ III+IVIII+IV III+IV(%)III+IV(%)
GATA3GATA3 88 1.6 1.6 10p1410p14 44 44 00 00 00 88 100.0 100.0 0.0010.001
GDAGDA 77 1.4 1.4 9q21.139q21.13 00 77 00 00 00 77 100.0 100.0 0.0020.002
GLI4GLI4 44 0.8 0.8 8q24.38q24.3 00 44 00 00 00 44 100.0 100.0 0.030.03
GMPPAGMPPA 44 0.8 0.8 2q352q35 00 44 00 00 00 44 100.0 100.0 0.030.03
GRM5GRM5 99 1.8 1.8 11q14.2-q14.311q14.2-q14.3 22 77 00 00 55 44 44.4 44.4 0.5490.549
GUCY2FGUCY2F 99 1.8 1.8 Xq22.3-q23Xq22.3-q23 22 77 00 00 33 66 66.7 66.7 0.1170.117
HEATR3HEATR3 88 1.6 1.6 16q12.116q12.1 00 88 00 00 44 44 50.0 50.0 0.7230.723
HIST2H2BEHIST2H2BE 44 0.8 0.8 1q21.21q21.2 00 44 00 00 00 44 100.0 100.0 0.030.03
HNRNPA0HNRNPA0 55 1.0 1.0 5q31.25q31.2 1One 33 1One 00 00 55 100.0 100.0 0.0120.012
IGF2RIGF2R 99 1.8 1.8 6q25.36q25.3 33 66 00 00 1One 88 88.9 88.9 0.0050.005
KCNA4KCNA4 1010 2.0 2.0 11p14.111p14.1 33 77 00 00 66 44 40.0 40.0 0.6040.604
KCND2KCND2 1010 2.0 2.0 7q31.317q31.31 1One 99 00 00 55 55 50.0 50.0 0.4010.401
KCNJ4KCNJ4 99 1.8 1.8 22q13.122q13.1 22 77 00 00 55 44 44.4 44.4 0.5490.549
LILRB4LILRB4 1414 2.8 2.8 19q13.4219q13.42 1One 1313 00 00 33 1111 78.6 78.6 0.0110.011
LRRIQ4LRRIQ4 55 1.0 1.0 3q26.23q26.2 1One 44 00 00 00 55 100.0 100.0 0.0120.012
MAGEL2MAGEL2 99 1.8 1.8 15q11.215q11.2 1One 88 00 00 55 44 44.4 44.4 0.5490.549
MAP3K6MAP3K6 99 1.8 1.8 1p36.111p36.11 22 77 00 00 55 44 44.4 44.4 0.5490.549
METTL13METTL13 55 1.0 1.0 1q24.31q24.3 22 22 1One 00 00 55 100.0 100.0 0.0120.012
MICAL3MICAL3 1111 2.2 2.2 22q11.2122q11.21 22 88 1One 00 77 44 36.4 36.4 0.5020.502
MXI1MXI1 44 0.8 0.8 10q25.210q25.2 22 22 00 00 00 44 100.0 100.0 0.030.03
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher's exact (P-Value)Fisher's exact (P-Value)
절단cut 미스센스missense 인프레임in-frame 기타Etc Ⅰ+ⅡⅠ+Ⅱ III +ⅣIII +IV III+IV(%)III+IV(%)
MYH7BMYH7B 1010 2.0 2.0 20q11.2220q11.22 1One 88 1One 00 77 33 30.0 30.0 0.3560.356
MYO3AMYO3A 2525 5.0 5.0 10p12.110p12.1 22 2323 00 00 99 1616 64.0 64.0 0.3610.361
NUP133NUP133 55 1.0 1.0 1q42.131q42.13 22 33 00 00 00 55 100.0 100.0 0.0120.012
OPRM1OPRM1 88 1.6 1.6 6q25.26q25.2 1One 77 00 00 66 22 25.0 25.0 0.2940.294
OR4D10OR4D10 1212 2.4 2.4 11q12.111q12.1 22 1010 00 00 22 1010 83.3 83.3 0.0050.005
PAX1PAX1 88 1.6 1.6 20p11.2220p11.22 1One 77 00 00 55 33 37.5 37.5 0.5680.568
PCDHA12PCDHA12 1313 2.6 2.6 5q31.35q31.3 00 1313 00 00 55 88 61.5 61.5 0.1190.119
PCDHGA10PCDHGA10 1010 2.0 2.0 5q31.35q31.3 00 1010 00 00 66 44 40.0 40.0 0.6040.604
PHLDB2PHLDB2 99 1.8 1.8 3q13.23q13.2 22 77 00 00 33 66 66.7 66.7 0.1170.117
SCNN1DSCNN1D 55 1.0 1.0 1p36.331p36.33 1One 44 00 00 00 55 100.0 100.0 0.0120.012
STAT4STAT4 88 1.6 1.6 2q32.2-q32.32q32.2-q32.3 1One 77 00 00 1One 77 87.5 87.5 0.0110.011
STK38LSTK38L 88 1.6 1.6 12p11.2312p11.23 22 66 00 00 00 88 100.0 100.0 0.0010.001
SYBUSYBU 88 1.6 1.6 8q23.28q23.2 1One 77 00 00 33 55 62.5 62.5 0.1970.197
TEX13ATEX13A 88 1.6 1.6 Xq22.3Xq22.3 1One 77 00 00 22 66 75.0 75.0 0.0730.073
TFF3TFF3 33 0.6 0.6 21q22.321q22.3 1One 22 00 00 00 33 100.0 100.0 0.710.71
TMEM117TMEM117 44 0.8 0.8 12q1212q12 1One 33 00 00 00 44 100.0 100.0 0.030.03
TMEM229ATMEM229A 88 1.6 1.6 7q31.327q31.32 00 33 55 00 88 00 0.0 0.0 0.0240.024
TMPRSS13TMPRSS13 1212 2.4 2.4 11q23.311q23.3 00 1010 22 00 99 33 25.0 25.0 0.3760.376
TNRC6CTNRC6C 1111 2.2 2.2 17q25.317q25.3 22 99 00 00 77 44 36.4 36.4 0.5020.502
TSPAN10TSPAN10 55 1.0 1.0 17q25.317q25.3 1One 44 00 00 33 22 40.0 40.0 0.6620.662
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher's exact (P-Value)Fisher's exact (P-Value)
절단cut 미스센스missense 인프레임in-frame 기타Etc Ⅰ+ⅡⅠ+Ⅱ III+IVIII+IV III+IV(%)III+IV(%)
UBDUBD 44 0.8 0.8 6p22.16p22.1 1One 33 00 00 00 44 100.0 100.0 0.030.03
UNKLUNKL 66 1.2 1.2 16p13.316p13.3 33 33 00 00 00 66 100.0 100.0 0.0050.005
ZC3H3ZC3H3 88 1.6 1.6 8q24.38q24.3 00 77 1One 00 1One 77 87.5 87.5 0.0110.011
ZFYVE28ZFYVE28 1010 2.0 2.0 4p16.34p16.3 22 88 00 00 44 66 60.0 60.0 0.1910.191
ZNF41ZNF41 77 1.4 1.4 Xp11.3Xp11.3 1One 66 00 00 22 55 71.4 71.4 0.1110.111
ZNF496ZNF496 88 1.6 1.6 1q441q44 22 66 00 00 55 33 37.5 37.5 0.5680.568
ZNF667ZNF667 1111 2.2 2.2 19q13.4319q13.43 33 77 1One 00 66 55 45.5 45.5 0.5030.503
ZNF71ZNF71 99 1.8 1.8 19q13.4319q13.43 00 99 00 00 55 44 44.4 44.4 0.5490.549
분석 결과, 각 전이기간 그룹에서 돌연변이가 있는 유전자이더라도 다른 그룹과 비교하였을 때 P-value가 0.05 이상으로 나타난 유전자가 있는 한편, 돌연변이가 있으면서, P-value가 0.05 미만으로 나타난 유전자가 확인되었다. 다른 그룹과 비교하였을 때 P-value가 0.05 미만인 돌연변이 유전자들은 다른 그룹에 비해서 특정 전이기간 그룹과 상호 관련성이 있는 것이므로 전이기간 특이적 유전자로 정하였고, 도 3a 내지 3b에 유전자의 돌연변이와 전이기간과의 연관성을 분석한 결과를 나타내었고, 36개월 전후 전이기간 특이적 전이성 고형암 환자의 마커 돌연변이에 대한 정보를 MSKCC에서 제공하는 데이터를 통해 확인하였다.As a result of the analysis, in each transition period group, there were genes with a P-value of 0.05 or more when compared with other groups, even if they had a mutation, while genes with a mutation and a P-value of less than 0.05 were identified. Mutant genes with a P-value of less than 0.05 compared to other groups were correlated with a specific transition period group compared to other groups, so they were designated as transition period-specific genes. The results of analyzing the association of
2-4. 120개월 전후 비교분석 (테스트 세트 4 - 전이기간 그룹 I + II + III vs IV)2-4. Comparative analysis before and after 120 months (test set 4 - transition period group I + II + III vs IV)
표 2에서 그룹별로 구분된 4개의 전이기간 그룹 중, 120개월 이하(I + II + III)와 121개월 이상(IV)인 그룹에 대하여, 후보 유전자들의 돌연변이 발생과 고형암 환자의 전이기간과의 연관성을 확인하였다. 0.05 미만의 P-value를 통계적으로 유의한 것으로 간주하여 전이기간 특이적 마커로 발굴 하였다. 하기 표 16 및 17에 테스트 세트 4에 관련된 후보 유전자들의 정보를 나타낸다.Among the four metastasis period groups divided by group in Table 2, for the group with less than 120 months (I + II + III) and more than 121 months (IV), the association between the occurrence of mutations in candidate genes and the metastasis period of solid cancer patients was confirmed. A P-value of less than 0.05 was considered as statistically significant and excavated as a metastasis period-specific marker. Tables 16 and 17 below show information of candidate genes related to test set 4.
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher's exact (P-Value)Fisher's exact (P-Value)
절단cut 미스센스missense 인프레임in-frame 기타Etc Ⅰ+Ⅱ+IIII+II+III IVIV IV(%)IV (%)
ASB1ASB1 22 0.4 0.4 2q37.32q37.3 00 22 00 00 22 00 0.0 0.0 0.7440.744
CCPG1CCPG1 44 0.8 0.8 15q21.315q21.3 00 44 00 00 44 00 0.0 0.0 0.5540.554
EPXEPX 22 0.4 0.4 17q2217q22 00 22 00 00 22 00 0.0 0.0 0.7440.744
ETFDHETFDH 33 0.6 0.6 4q32.14q32.1 1One 22 00 00 33 00 0.0 0.0 0.1470.147
FLVCR2FLVCR2 1One 0.2 0.2 14q24.314q24.3 00 1One 00 00 1One 00 0.0 0.0 0.8620.862
HYAL1HYAL1 22 0.4 0.4 3p21.313p21.31 00 22 00 00 22 00 0.0 0.0 0.7440.744
IDH3BIDH3B 1One 0.2 0.2 20p1320p13 00 1One 00 00 1One 00 0.0 0.0 0.8620.862
KRTAP19-4KRTAP19-4 22 0.4 0.4 21q22.1121q22.11 00 22 00 00 22 00 0.0 0.0 0.7440.744
LCE4ALCE4A 22 0.4 0.4 1q21.31q21.3 1One 00 1One 00 22 00 0.0 0.0 0.7440.744
LIN7ALIN7A 22 0.4 0.4 12q21.3112q21.31 1One 1One 00 00 1One 1One 50.0 50.0 0.260.26
LINS1LINS1 44 0.8 0.8 15q26.315q26.3 00 44 00 00 44 00 0.0 0.0 0.5540.554
LRRTM2LRRTM2 22 0.4 0.4 5q31.25q31.2 00 22 00 00 22 00 0.0 0.0 0.7440.744
MRPS22MRPS22 22 0.4 0.4 3q233q23 00 22 00 00 1One 1One 50.0 50.0 0.260.26
ORMDL3ORMDL3 22 0.4 0.4 17q21.117q21.1 1One 1One 00 00 22 00 0.0 0.0 0.7440.744
PGLSPGLS 22 0.4 0.4 19p13.1119p13.11 1One 1One 00 00 1One 1One 50.0 50.0 0.260.26
PLK5PLK5 22 0.4 0.4 19p13.319p13.3 1One 00 1One 00 22 00 0.0 0.0 0.7440.744
PNKPPNKP 22 0.4 0.4 19q13.3319q13.33 00 22 00 00 22 00 0.0 0.0 0.7440.744
RAI14RAI14 55 1.0 1.0 5p13.25p13.2 22 33 00 00 55 00 0.0 0.0 0.4780.478
REG3AREG3A 22 0.4 0.4 2p122p12 00 22 00 00 22 00 0.0 0.0 0.7440.744
RIMS3RIMS3 22 0.4 0.4 1p34.21p34.2 00 22 00 00 1One 1One 50.0 50.0 0.260.26
유전자gene 돌연변이
수mutation
number 		돌연변이(%)Mutation (%) 사이토
밴드Saito
band 		돌연변이유형Mutation type 전이기간 그룹transition period group Fisher's exact (P-Value)Fisher's exact (P-Value)
절단cut 미스센스missense 인프레임in-frame 기타Etc Ⅰ+Ⅱ+IIII+II+III IVIV IV(%)IV (%)
RNF139RNF139 44 0.8 0.8 8q24.138q24.13 1One 22 00 1One 22 22 50.0 50.0 0.0970.097
RNF19ARNF19A 22 0.4 0.4 8q22.28q22.2 00 22 00 00 1One 1One 50.0 50.0 0.260.26
RPS2RPS2 22 0.4 0.4 16p13.316p13.3 00 22 00 00 22 00 0.0 0.0 0.7440.744
SAFBSAFB 22 0.4 0.4 19p13.319p13.3 1One 1One 00 00 1One 1One 50.0 50.0 0.260.26
SPRR3SPRR3 22 0.4 0.4 1q21.31q21.3 00 22 00 00 22 00 0.0 0.0 0.7440.744
TM9SF4TM9SF4 22 0.4 0.4 20q11.2120q11.21 00 22 00 00 22 00 0.0 0.0 0.7440.744
TRAPPC13TRAPPC13 22 0.4 0.4 5q12.35q12.3 00 22 00 00 22 00 0.0 0.0 0.7440.744
VWA1VWA1 44 0.8 0.8 1p36.331p36.33 22 22 00 00 44 00 0.0 0.0 0.5540.554
YWHAGYWHAG 22 0.4 0.4 7q11.237q11.23 1One 1One 00 00 22 00 0.0 0.0 0.7440.744
ZBTB12ZBTB12 22 0.4 0.4 6p21.336p21.33 00 22 00 00 1One 1One 50.0 50.0 0.260.26
ZNF92ZNF92 22 0.4 0.4 7q11.217q11.21 00 22 00 00 1One 1One 50.0 50.0 0.260.26
분석 결과, 각 전이기간 그룹에서 돌연변이가 있는 유전자이더라도 다른 그룹과 비교하였을 때 P-value가 0.05 이상으로 나타난 유전자가 있는 한편, 돌연변이가 있으면서, P-value가 0.05 미만으로 나타난 유전자가 확인되었다. 다른 그룹과 비교하였을 때 P-value가 0.05 미만인 돌연변이 유전자들은 다른 그룹에 비해서 특정 전이기간 그룹과 상호 관련성이 있는 것이므로 전이기간 특이적 유전자로 였으나, 120개월 전후 전이기간에 대한 전이성 고형암 환자의 마커는 유의적인 p-value를 나타내는 마커가 없어, 해당 기간 특이적인 마커를 발굴해 내지 못하였다.As a result of the analysis, in each transition period group, there were genes with a P-value of 0.05 or more when compared with other groups, even if they had a mutation, while genes with a mutation and a P-value of less than 0.05 were identified. Mutant genes with a P-value of less than 0.05 compared to other groups were correlated with a specific metastatic period group compared to other groups, so they were metastasis period-specific genes. Since there was no marker indicating a significant p-value, a marker specific for the corresponding period could not be discovered.
2-5. 전이기간 그룹별 특이적 유전자 도출2-5. Derivation of specific genes for each metastasis period group
상기 실시예 2-2 내지 2-4의 분석결과를 토대로 각 전이기간 그룹별 특이적인 돌연변이 마커를 도출해 내었다.Based on the analysis results of Examples 2-2 to 2-4, specific mutation markers for each transition period group were derived.
상기 결과로부터, A2M, ADAMTSL5, ARL2BP, B4GALT3, BHLHE22, C11orf54, C8orf34, CCDC14, CCNJL, CD109, CERCAM, CFAP57, CLEC4G, CPO, CTNNBL1, DCAF13, DNAH1, DNAH9, ENG, ESR1, FGG, GATA3, GDA, GLI4, GMPPA, HNRNPA0, HOXC10, ICAM5, IL6ST, ITGB3, KCNK2, KRTAP5-2, LAMC3, LILRB4, MMP16, MRPS9, MYD88, MYH7B, NIPAL3, NUP58, OR4D10, P4HB, PCDHA12, PNPT1, PPP1R15A, PPP1R9A, PRKCD, RIPPLY2, RLN1, RNF6, SCML4, STAT4, STK38L, TGM4, TIE1, TMEM229A, TMPRSS13, UNKL, VPS37D, ZBTB17, ZC3H3, ZNF730 및 ZNF783의 돌연변이를 전이기간 그룹 Ⅰ 특이적인 마커로 사용할 수 있다는 사실을 확인하였고, 이러한 마커 중, MSKCC가 제공하는 데이터(10945 샘플들)과 일치하여 생존율과 관련한 세부 분석이 가능한 마커를 재차 선별한 결과, ESR1, GATA3 및 MYD88을 전이기간 그룹 Ⅰ 특이적인 마커로 최종 선별하였다.From the above results, A2M, ADAMTSL5, ARL2BP, B4GALT3, BHLHE22, C11orf54, C8orf34, CCDC14, CCNJL, CD109, CERCAM, CFAP57, CLEC4G, CPO, CTNNBL1, DCAF13, DNAH1, DNAH9, FGG, GSRATA3, FGG GLI4, GMPPA, HNRNPA0, HOXC10, ICAM5, IL6ST, ITGB3, KCNK2, KRTAP5-2, LAMC3, LILRB4, MMP16, MRPS9, MYD88, MYH7B, NIPAL3, NUP58, OR4D10, P4HB, PCDHA12, PNPP1RPT1, PPP1R It was confirmed that mutations in RIPPLY2, RLN1, RNF6, SCML4, STAT4, STK38L, TGM4, TIE1, TMEM229A, TMPRSS13, UNKL, VPS37D, ZBTB17, ZC3H3, ZNF730 and ZNF783 can be used as metastatic group I-specific markers, Among these markers, as a result of reselecting markers that can be analyzed in detail related to survival in accordance with the data provided by MSKCC (10945 samples), ESR1, GATA3, and MYD88 were finally selected as metastatic period group I-specific markers.
상기 결과로부터, A2M, ADAMTSL2, ADAMTSL5, ADCK5, ADRA2C, AHCY, AIMP2, ALKBH3, AQP11, ARMC10, ASPHD2, C11orf87, C14orf28, C20orf144, C2orf68, CCDC152, CCT5, CDKL1, CEP85, CERCAM, CLEC4G, CPO, CTSO, CYP26C1, DCPS, DNAH1, ENO3, EPS15, ETV7, FAM131B, FAM113A, FAM221A, FAM227B, FBXO32, FEZF1, GJC3, GLCCI1, GPC1, GPR87, GPR88, GREB1, GRN, GYS2, H3F3B, HOXD12, HPGDS, HSPA12B, IER5L, IL22, INTS6L, KAZALD1, KCNK9, KIAA1524, KRT17, KRT39, LAS1L, MAT1A, MBOAT7, MED16, MFSD6, MRM2, NEDD1, NNMT, NUP58, OR1L8, OR1N2, OR2AK2, OR5H15, OR5L1, PARVB, PLEKHO2, PNPT1, POU4F1, PPM1H, PREPL, SAG, SLC43A1, SPDYA, STXBP2, SYTL1, TBL1X, TIE1, TMEM229A, TMPRSS113, TRAPPC5, TTC22, UNC5A, UNC5D, VRK3 및 ZNF730의 돌연변이를 전이기간 그룹 Ⅱ 특이적인 마커로 사용할 수 있다는 사실을 확인하였고, 이러한 마커 중, MSKCC가 제공하는 데이터(10945 샘플들)과 일치하여 생존율과 관련한 세부 분석이 가능한 마커를 재차 선별한 결과, H3F3B를 전이기간 그룹 Ⅱ 특이적인 마커로 최종 선별하였다.From the above results, A2M, ADAMTSL2, ADAMTSL5, ADCK5, ADRA2C, AHCY, AIMP2, ALKBH3, AQP11, ARMC10, ASPHD2, C11orf87, C14orf28, C20orf144, C2orf68, CCDC152, CCT5, CDKL1, CEP85, CERSO, CEP85, CYP26C1, DCPS, DNAH1, ENO3, EPS15, ETV7, FAM131B, FAM113A, FAM221A, FAM227B, FBXO32, FEZF1, GJC3, GLCCI1, GPC1, GPR87, GPR88, GREB1, GRN, GYS2, H3F3B, HOX D12, HPGDS IL22, INTS6L, KAZALD1, KCNK9, KIAA1524, KRT17, KRT39, LAS1L, MAT1A, MBOAT7, MED16, MFSD6, MRM2, NEDD1, NNMT, NUP58, OR1L8, OR1N2, OR2AK2, OR5H15, ORVB, PLEKHO, PN PAR1, PLEKHO Mutations of PPM1H, PREPL, SAG, SLC43A1, SPDYA, STXBP2, SYTL1, TBL1X, TIE1, TMEM229A, TMPRSS113, TRAPPC5, TTC22, UNC5A, UNC5D, VRK3 and ZNF730 can be used as metastatic group II-specific markers. Among these markers, as a result of reselecting markers that can be analyzed in detail related to survival in accordance with the data (10945 samples) provided by MSKCC, H3F3B was finally selected as a metastasis period group II-specific marker.
상기 결과로부터, AAK1, ANO9, ASPDH, B4GALT3, BHLHE22, CCNJL, CR1, CREBBP, DNAH9, ESR1, FXR1, FZD1, GATA3, GDA, GLI4, GMPPA, HIST2H2BE, HNRNPA0, IGF2R, LILRB4, LRRIQ4, METTL13, MXI1, NUP133, OR4D10, SCNN1D, STAT4, STK38L, TMEM117, TMEM229A, UBD, UNKL 및 ZC3H3의 돌연변이를 전이기간 그룹 Ⅲ 특이적인 마커로 사용할 수 있다는 사실을 확인하였고, 이러한 마커 중, MSKCC가 제공하는 데이터(10945 샘플들)과 일치하여 생존율과 관련한 세부 분석이 가능한 마커를 재차 선별한 결과, CREBBP, ESR1 및 GATA3를 전이기간 그룹 Ⅲ 특이적인 마커로 최종 선별하였다.From the above results, AAK1, ANO9, ASPDH, B4GALT3, BHLHE22, CCNJL, CR1, CREBBP, DNAH9, ESR1, FXR1, FZD1, GATA3, GDA, GLI4, GMPPA, HIST2H2BERI, HNRNPA0, IGF2R, LILRB4, It was confirmed that mutations in NUP133, OR4D10, SCNN1D, STAT4, STK38L, TMEM117, TMEM229A, UBD, UNKL and ZC3H3 can be used as metastatic group III-specific markers. Among these markers, data provided by MSKCC (sample 10945) As a result of reselecting the markers that can be analyzed in detail related to survival rate, CREBBP, ESR1, and GATA3 were finally selected as metastatic period group III-specific markers.
다만, 상기 결과로부터, 전이기간 그룹 Ⅳ에 유의적인 마커는 확인할 수 없었기에, 전이기간 그룹 Ⅳ 특이적인 마커는 선별하지 못하였다.However, from the above results, a significant marker for the metastasis period group IV could not be identified, so a marker specific to the metastasis period group IV could not be selected.
실시예 3. 전이기간 관련 유전자들의 생존 특이적 마커로서의 활용 가능성 확인Example 3. Confirmation of utility as survival-specific markers of metastasis-related genes
전이성 고형암 환자에서 실시예 1에서 선발한 후보 유전자들에 돌연변이가 발생했을 때, 생존에 주는 영향을 확인하기 위해, 17가지 주요 고형암에 대해서 본 발명의 마커와 생존율의 상관관계를 확인하였다. CREBBP, ESR1, GATA3, H3F3B 및 MYD88의 전체적인 암종별 OS와 DFS는 하기 표 18에 나타내었고, 유전자 각각의 OS와 DFS는 하기 표 19(CREBBP), 표 20(ESR1), 표 21(GATA3), 표 22(H3F3B) 및 표 23(MYD88)에 나타내었다.When mutations occurred in the candidate genes selected in Example 1 in metastatic solid cancer patients, the correlation between the markers of the present invention and survival rates was checked for 17 major solid cancers to determine the effect on survival. The overall OS and DFS for each cancer type of CREBBP, ESR1, GATA3, H3F3B and MYD88 are shown in Table 18 below, and the OS and DFS of each gene are shown in Table 19 (CREBBP), Table 20 (ESR1), Table 21 (GATA3), Table 22 (H3F3B) and Table 23 (MYD88) are shown.
NONO MSKCC 10945MSKCC 10945 OSOS DFSDFS Mutation data 수number of mutation data
1One Lung adenocarcinomaLung adenocarcinoma 0.09180.0918 0.7230.723 23222322
22 Breast invasive ductal carcinomaBreast invasive ductal carcinoma 0.0640.064 0.3190.319 65636563
33 Colon adenocarcinomaColon adenocarcinoma 3.50E-033.50E-03 0.2310.231 135135
44 Prostate adenocarcinomaProstate adenocarcinoma 3.52E-043.52E-04 1.08E-031.08E-03 45884588
55 Bladder urothelial carcinomaBladder urothelial carcinoma 2.97E-032.97E-03 0.2870.287 17561756
66 Lung squamous cell carcinomaLung squamous cell carcinoma 0.2980.298 0.1670.167 841841
77 Cutaneous melanomaCutaneous melanoma 0.05890.0589 0.3110.311 14201420
88 Cancer of unknown primaryCancer of unknown primary 0.05820.0582 0.7030.703 1728517285
99 Pancreatic adenocarcinomaPancreatic adenocarcinoma 0.2340.234 0.4070.407 920920
1010 Glioblastoma multiformeGlioblastoma multiforme 0.290.29 0.6170.617 11181118
1111 Colorectal adenocarcinomaColorectal adenocarcinoma 0.3580.358 0.2660.266 32783278
1212 High-grade serous ovarian cancerHigh-grade serous ovarian cancer 0.9760.976 0.4540.454 11551155
1313 Stomach adenocarcinomaStomach adenocarcinoma 0.680.68 0.3470.347 12781278
1414 Renal clear cell carcinomaRenal clear cell carcinoma 0.2750.275 0.1960.196 15961596
1515 Esophageal adenocarcinomaEsophageal adenocarcinoma 0.1470.147 0.03490.0349 518518
1616 Testis(Testicular cancer)Testis (Testicular cancer) 0.9740e-50.9740e-5 0.0664　0.0664 480480
1717 Intrahepatic cholangiocarcinomaIntrahepatic cholangiocarcinoma 0.2440.244 NA NA 103103
NONO MSKCC 10945MSKCC 10945 OSOS DFSDFS Mutation data 수number of mutation data
1One Lung adenocarcinomaLung adenocarcinoma 0.4820.482 0.5090.509 23222322
22 Breast invasive ductal carcinomaBreast invasive ductal carcinoma 0.08970.0897 0.5570.557 65636563
33 Colon adenocarcinomaColon adenocarcinoma 0.02840.0284 0.130.13 135135
44 Prostate adenocarcinomaProstate adenocarcinoma 9.44E-059.44E-05 0.01110.0111 45884588
55 Bladder urothelial carcinomaBladder urothelial carcinoma 1.20E-031.20E-03 0.9530.953 17561756
66 Lung squamous cell carcinomaLung squamous cell carcinoma 0.8180.818 0.9010.901 841841
77 Cutaneous melanomaCutaneous melanoma 0.5650.565 0.9190.919 14201420
88 Cancer of unknown primaryCancer of unknown primary 0.06550.0655 0.4120.412 1728517285
99 Pancreatic adenocarcinomaPancreatic adenocarcinoma 0.6290.629 0.1440.144 920920
1010 Glioblastoma multiformeGlioblastoma multiforme 0.6290.629 0.1440.144 11181118
1111 Colorectal adenocarcinomaColorectal adenocarcinoma 0.301　0.301 0.446　0.446 32783278
1212 High-grade serous ovarian cancerHigh-grade serous ovarian cancer 0.6120.612 0.5920.592 11551155
1313 Stomach adenocarcinomaStomach adenocarcinoma 0.09170.0917 0.5550.555 12781278
1414 Renal clear cell carcinomaRenal clear cell carcinoma 0.2520.252 0.3520.352 15961596
1515 Esophageal adenocarcinomaEsophageal adenocarcinoma 6.99E-036.99E-03 0.02230.0223 518518
1616 Testis(Testicular cancer)Testis (Testicular cancer) 1.038e-4　1.038e-4 0.172　0.172 　480480
1717 Intrahepatic cholangiocarcinomaIntrahepatic cholangiocarcinoma 0.01550.0155 0.2430.243 103103
NONO MSKCC 10945MSKCC 10945 OSOS DFSDFS Mutation data 수number of mutation data
1One Lung adenocarcinomaLung adenocarcinoma 0.5690.569 0.4730.473 23222322
22 Breast invasive ductal carcinomaBreast invasive ductal carcinoma 3.58E-033.58E-03 0.3180.318 65636563
33 Colon adenocarcinomaColon adenocarcinoma 7.41E-047.41E-04 0.640.64 135135
44 Prostate adenocarcinomaProstate adenocarcinoma 0.4040.404 0.7330.733 45884588
55 Bladder urothelial carcinomaBladder urothelial carcinoma 0.08750.0875 0.9050.905 17561756
66 Lung squamous cell carcinomaLung squamous cell carcinoma 0.6980.698 0.01080.0108 841841
77 Cutaneous melanomaCutaneous melanoma 0.6880.688 0.3290.329 14201420
88 Cancer of unknown primaryCancer of unknown primary 0.8910.891 0.7990.799 1728517285
99 Pancreatic adenocarcinomaPancreatic adenocarcinoma 0.7820.782 0.8230.823 920920
1010 Glioblastoma multiformeGlioblastoma multiforme 0.7820.782 0.8230.823 11181118
1111 Colorectal adenocarcinomaColorectal adenocarcinoma 0.6940.694 0.0768　0.0768 32783278
1212 High-grade serous ovarian cancerHigh-grade serous ovarian cancer 0.8020.802 0.8180.818 11551155
1313 Stomach adenocarcinomaStomach adenocarcinoma 0.8540.854 0.7560.756 12781278
1414 Renal clear cell carcinomaRenal clear cell carcinoma 0.1670.167 0.4720.472 15961596
1515 Esophageal adenocarcinomaEsophageal adenocarcinoma 0.9370.937 0.5060.506 518518
1616 Testis(Testicular cancer)Testis (Testicular cancer) 0.870　0.870 0.4710.471 480　480
1717 Intrahepatic cholangiocarcinomaIntrahepatic cholangiocarcinoma 0.9730.973 0.6530.653 103103
NONO MSKCC 10945MSKCC 10945 OSOS DFSDFS Mutation data 수number of mutation data
1One Lung adenocarcinomaLung adenocarcinoma 0.01480.0148 0.9290.929 23222322
22 Breast invasive ductal carcinomaBreast invasive ductal carcinoma 6.52E-066.52E-06 8.03E-038.03E-03 65636563
33 Colon adenocarcinomaColon adenocarcinoma 0.6340.634 0.07330.0733 135135
44 Prostate adenocarcinomaProstate adenocarcinoma 0.1050.105 1.60E-031.60E-03 45884588
55 Bladder urothelial carcinomaBladder urothelial carcinoma 0.04290.0429 0.1850.185 17561756
66 Lung squamous cell carcinomaLung squamous cell carcinoma 0.8210.821 5.34E-035.34E-03 841841
77 Cutaneous melanomaCutaneous melanoma 0.1410.141 0.3340.334 14201420
88 Cancer of unknown primaryCancer of unknown primary 0.01210.0121 NANA 1728517285
99 Pancreatic adenocarcinomaPancreatic adenocarcinoma 0.4470.447 0.110.11 920920
1010 Glioblastoma multiformeGlioblastoma multiforme 0.4470.447 0.110.11 11181118
1111 Colorectal adenocarcinomaColorectal adenocarcinoma 0.819　0.819 0.9620.962 32783278
1212 High-grade serous ovarian cancerHigh-grade serous ovarian cancer 0.3510.351 0.4540.454 11551155
1313 Stomach adenocarcinomaStomach adenocarcinoma 0.04710.0471 0.1560.156 12781278
1414 Renal clear cell carcinomaRenal clear cell carcinoma 0.9170.917 0.3450.345 15961596
1515 Esophageal adenocarcinomaEsophageal adenocarcinoma 0.03290.0329 3.57E-033.57E-03 518518
1616 Testis(Testicular cancer)Testis (Testicular cancer) 0.816　0.816 0.3350.335 480480
1717 Intrahepatic cholangiocarcinomaIntrahepatic cholangiocarcinoma 0.07780.0778 0.09690.0969 103103
NONO MSKCC 10945MSKCC 10945 OSOS DFSDFS Mutation data 수number of mutation data
1One Lung adenocarcinomaLung adenocarcinoma 0.4690.469 0.4150.415 23222322
22 Breast invasive ductal carcinomaBreast invasive ductal carcinoma 0.4430.443 0.6670.667 65636563
33 Colon adenocarcinomaColon adenocarcinoma 0.7730.773 0.7940.794 135135
44 Prostate adenocarcinomaProstate adenocarcinoma 0.0810.081 0.02940.0294 45884588
55 Bladder urothelial carcinomaBladder urothelial carcinoma 0.9720.972 0.4220.422 17561756
66 Lung squamous cell carcinomaLung squamous cell carcinoma 0.9780.978 0.9240.924 841841
77 Cutaneous melanomaCutaneous melanoma 1.16E-031.16E-03 0.03990.0399 14201420
88 Cancer of unknown primaryCancer of unknown primary 0.2470.247 NANA 1728517285
99 Pancreatic adenocarcinomaPancreatic adenocarcinoma 0.1030.103 NANA 920920
1010 Glioblastoma multiformeGlioblastoma multiforme 0.1030.103 NANA 11181118
1111 Colorectal adenocarcinomaColorectal adenocarcinoma 0.255　0.255 0.3680.368 32783278
1212 High-grade serous ovarian cancerHigh-grade serous ovarian cancer 0.6710.671 0.2330.233 11551155
1313 Stomach adenocarcinomaStomach adenocarcinoma 0.5280.528 0.03610.0361 12781278
1414 Renal clear cell carcinomaRenal clear cell carcinoma NANA NANA 15961596
1515 Esophageal adenocarcinomaEsophageal adenocarcinoma 0.1570.157 0.4960.496 518518
1616 Testis(Testicular cancer)Testis (Testicular cancer) NANA NANA 480480
1717 Intrahepatic cholangiocarcinomaIntrahepatic cholangiocarcinoma 0.1490.149 0.4970.497 103103
NONO MSKCC 10945MSKCC 10945 OSOS DFSDFS Mutation data 수number of mutation data
1One Lung adenocarcinomaLung adenocarcinoma 0.06930.0693 0.2750.275 23222322
22 Breast invasive ductal carcinomaBreast invasive ductal carcinoma 0.7340.734 0.6550.655 65636563
33 Colon adenocarcinomaColon adenocarcinoma NANA NANA 135135
44 Prostate adenocarcinomaProstate adenocarcinoma 0.01780.0178 0.5580.558 45884588
55 Bladder urothelial carcinomaBladder urothelial carcinoma 0.0810.081 0.8470.847 17561756
66 Lung squamous cell carcinomaLung squamous cell carcinoma 0.6630.663 0.6280.628 841841
77 Cutaneous melanomaCutaneous melanoma 0.1650.165 0.7630.763 14201420
88 Cancer of unknown primaryCancer of unknown primary 0.1190.119 NANA 1728517285
99 Pancreatic adenocarcinomaPancreatic adenocarcinoma 0.1120.112 0.1190.119 920920
1010 Glioblastoma multiformeGlioblastoma multiforme 0.1120.112 0.1190.119 11181118
1111 Colorectal adenocarcinomaColorectal adenocarcinoma 0.778　0.778 0.5520.552 32783278
1212 High-grade serous ovarian cancerHigh-grade serous ovarian cancer 0.5410.541 0.03910.0391 11551155
1313 Stomach adenocarcinomaStomach adenocarcinoma 0.460.46 0.2710.271 12781278
1414 Renal clear cell carcinomaRenal clear cell carcinoma 0.04810.0481 0.9480.948 15961596
1515 Esophageal adenocarcinomaEsophageal adenocarcinoma 0.4710.471 0.9430.943 518518
1616 Testis(Testicular cancer)Testis (Testicular cancer) 0.870　0.870 2.54e-72.54e-7 480480
1717 Intrahepatic cholangiocarcinomaIntrahepatic cholangiocarcinoma 0.5990.599 0.6970.697 103103
각각의 후보 유전자의 전이성 고형암 실시예 1에서 확보한 임상 정보를 토대로 카플란 마이어 생존 분석법(Spss 21)으로 생존 기간(overall survival kaplan-meier estimate) 및 무병 생존 기간(disease free survival kaplan-meier estimate)을 구하였다. 총 생존 기간에서는 사망을 사건으로 정하고, 무병 생존 기간에서는 고형암의 재발을 사건으로 정하였다. 상기 유전자들 각각에서의 돌연변이 발생이 전이성 고형암 환자의 고형암에 의한 사망, 또는 고형암의 재발과 상호 관련성이 있는지 여부를 확인하기 위하여, 카플란 마이어 생존 분석법에서 얻어진 각 군의 사건 시간(event time)을 토대로 돌연변이 발생과 총 생존 기간의 연관성, 및 돌연변이 발생과 무병 생존 기간의 연관성을 로그순위 검정(log rank test)에 의해 확인하였고, 0.05 미만의 P-value를 통계적으로 유의한 것으로 간주하였다. 실험군은 본 발명의 유전자들에 돌연변이가 있는 경우(case with alterations in query gene)로 하였고, 대조군으로는 본 발명의 유전자들에 돌연변이가 없는 경우(case without alterations in query gene)로 하였다. 생존 기간 중앙값(median months survival)은 해당 군의 환자들의 생존 기간을 나열하였을 때 중앙에 위치하는 값을 의미한다. 무병 생존 기간 중앙값(median months desease free)는 해당 군의 환자들의 생존 기간을 나열하였을 때 중앙에 위치하는 값을 의미한다. 카플란 마이어 생존 분석법에 의한 생존 곡선에서의 경사도는 생존 기간에 의해 결정된다.Based on the clinical information obtained in Example 1 of metastatic solid cancer of each candidate gene, the overall survival kaplan-meier estimate and the disease free survival kaplan-meier estimate were calculated by the Kaplan Meier survival assay (Spss 21). saved In the total survival period, death was defined as an event, and in the disease-free survival period, recurrence of solid cancer was determined as an event. In order to determine whether the occurrence of mutations in each of the above genes is correlated with the death or recurrence of solid cancer in patients with metastatic solid cancer, based on the event time of each group obtained by the Kaplan Meier survival assay. The association between mutagenesis and total survival and the association between mutagenesis and disease-free survival were confirmed by log rank test, and a P-value of less than 0.05 was considered statistically significant. The experimental group was the case with alterations in query gene, and the control group was the case without alterations in query gene. The median months survival means a value located at the center when the survival periods of patients in the corresponding group are listed. The median disease-free survival period (median months desease free) means a value located at the center when the survival period of patients in the relevant group is listed. The slope in the survival curve by the Kaplan Meier survival assay is determined by the duration of survival.
본 발명자들은 대표적인 전이성 고형암 17종(폐선암(Lung adenocarcinoma), 유방침습성유관암종(Breast invasive ductal carcinoma), 결장선암(Colon adenocarcinoma), 전립선선암(Prostate adenocarcinoma), 방광요로피암종(Bladder urothelial carcinoma), 폐편평세포암종(Lung squamous cell carcinoma), 피부흑색종(Cutaneous melanoma), 원발부위불명암(Cancer of unknown primary), 췌장도관선암종(Pancreatic adenocarcinoma), 교모세포종(Glioblastoma multiforme), 대장선암(Colorectal adenocarcinoma), 고등급장액성난소암(High grade serous ovarian cancer), 위선암(Stomach adenocarcinoma), 신세포암종(Renal clear cell carcinoma), 식도암(Esophageal adenocarcinoma), 고환암(Testicular cancer) 및 간내담관암(Intrahepatic cholangiocarcinoma))을 가지고 있는 전이성 고형암 환자들에서 후보 유전자들 각각에서의 돌연변이를 MSKCC에서 제공하는 10945개의 샘플을 사용하여 도출해 내었으며, 이렇게 도출해낸 CREBBP 의 상기 17개의 암종에 대한 돌연변이를 하기 표 24 내지 표 49에 나타내었고, ESR1의 돌연변이는 하기 표 50 내지 표 63에 나타내었으며, GATA3의 돌연변이는 하기 표 64 내지 표 78에 나타내었고, H3F3B의 돌연변이는 하기 표 79 및 표 80에 나타내었으며, MYD88의 돌연변이는 하기 표 81 내지 표 83에 나타내었다.The present inventors have identified 17 representative metastatic solid cancer types (Lung adenocarcinoma, Breast invasive ductal carcinoma), Colon adenocarcinoma, Prostate adenocarcinoma, and Bladder urothelial carcinoma. , Lung squamous cell carcinoma, Cutaneous melanoma, Cancer of unknown primary, Pancreatic adenocarcinoma, Glioblastoma multiforme, Colorectal adenocarcinoma), High grade serous ovarian cancer, Stomach adenocarcinoma, Renal clear cell carcinoma, Esophageal adenocarcinoma, Testicular cancer and Intrahepatic cholangiocarcinoma ) in metastatic solid cancer patients, mutations in each of the candidate genes were derived using 10945 samples provided by MSKCC. ESR1 mutations are shown in Tables 50 to 63 below, GATA3 mutations are shown in Tables 64 to 78 below, H3F3B mutations are shown in Tables 79 and 80 below, and mutations in MYD88 are It is shown in Tables 81 to 83 below.
Figure PCTKR2022000311-appb-img-000001
Figure PCTKR2022000311-appb-img-000001
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy#Copy# COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0000908-T01-IM3P-0000908-T01-IM3 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma S1680delS1680del IF delIF del DiploidDiploid 77 0.480.48 2929
P-0002341-T01-IM3P-0002341-T01-IM3 Penile Squamous Cell CarcinomaPenile Squamous Cell Carcinoma S1680delS1680del IF delIF del DiploidDiploid 77 0.250.25 1414
P-0004190-T01-IM5P-0004190-T01-IM5 Follicular LymphomaFollicular Lymphoma S1680delS1680del IF delIF del DiploidDiploid 77 0.510.51 66
P-0004528-T01-IM5P-0004528-T01-IM5 Uterine Serous Carcinoma/Uteri,...Uterine Serous Carcinoma/Uteri,... S1680delS1680del IF delIF del DiploidDiploid 77 0.160.16 77
P-0004560-T01-IM5P-0004560-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... S1680delS1680del IF delIF del DiploidDiploid 77 0.260.26 66
P-0007048-T01-IM5P-0007048-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... S1680delS1680del IF delIF del DiploidDiploid 77 0.280.28 99
P-0007697-T01-IM5P-0007697-T01-IM5 Follicular LymphomaFollicular Lymphoma S1680delS1680del IF delIF del DiploidDiploid 77 0.650.65 22
P-0008781-T01-IM5P-0008781-T01-IM5 Follicular LymphomaFollicular Lymphoma S1680delS1680del IF delIF del DiploidDiploid 77 0.760.76 1010
P-0009612-T01-IM5P-0009612-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme S1680delS1680del IF delIF del DiploidDiploid 77 0.280.28 55
P-0010581-T01-IM5P-0010581-T01-IM5 Rectal AdenocarcinomaRectal Adenocarcinoma S1680delS1680del IF delIF del DiploidDiploid 77 0.210.21 6868
P-0012201-T01-IM5P-0012201-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... S1680delS1680del IF delIF del DiploidDiploid 77 0.260.26 2525
P-0002687-T01-IM3P-0002687-T01-IM3 Endocervical AdenocarcinomaEndocervical Adenocarcinoma R1446CR1446C MissenseMissense DiploidDiploid 3232 0.240.24 44
P-0004456-T01-IM5P-0004456-T01-IM5 Follicular LymphomaFollicular Lymphoma R1446CR1446C MissenseMissense DiploidDiploid 3232 0.760.76 44
P-0005122-T01-IM5P-0005122-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer R1446CR1446C MissenseMissense DiploidDiploid 3232 0.180.18 88
P-0000546-T01-IM3P-0000546-T01-IM3 Pleural Mesothelioma, Epitheli...Pleural Mesothelioma, Epitheli... R1446HR1446H MissenseMissense DiploidDiploid 3232 0.100.10 44
P-0001511-T01-IM3P-0001511-T01-IM3 Anal Squamous Cell CarcinomaAnal Squamous Cell Carcinoma R1446HR1446H MissenseMissense DiploidDiploid 0.060.06 33
P-0005203-T01-IM5P-0005203-T01-IM5 Anal Squamous Cell CarcinomaAnal Squamous Cell Carcinoma R1446HR1446H MissenseMissense DiploidDiploid 3232 0.270.27 33
P-0005765-T01-IM5P-0005765-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... R1446HR1446H MissenseMissense DiploidDiploid 3232 0.260.26 66
P-0010236-T01-IM5P-0010236-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma R1446HR1446H MissenseMissense DiploidDiploid 3232 0.110.11 1313
P-0008965-T01-IM5P-0008965-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... W1502CW1502C MissenseMissense DiploidDiploid 66 0.400.40 88
P-0006499-T01-IM5P-006499-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... Y1450DY1450D MissenseMissense DiploidDiploid 22 0.230.23 1212
P-0006048-T02-IM5P-0006048-T02-IM5 Small Cell Lung CancerSmall Cell Lung Cancer D1472RD1472R MissenseMissense DiploidDiploid 66 0.760.76 1414
P-0010103-T01-IM5P-0010103-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma W1472RW1472R MissenseMissense DiploidDiploid 33 0.430.43 88
P-0008556-T01-IM5P-0008556-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... Y1503HY1503H MissenseMissense DiploidDiploid 1111 0.450.45 88
P-0010580-T01-IM5P-0010580-T01-IM5 Mature B-Cell Lymphoma,...Mature B-Cell Lymphoma,... Y1503HY1503H MissenseMissense DiploidDiploid 1111 0.120.12 99
P-0010783-T01-IM5P-0010783-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma R1446SR1446S MissenseMissense DiploidDiploid 3232 0.310.31 8080
P-0005003-T01-IM5P-0005003-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma L1499QL1499Q MissenseMissense DiploidDiploid 33 0.060.06 1818
P-0001752-T01-IM3P-0001752-T01-IM3 High-Grade Serous Ovarian CancerHigh-Grade Serous Ovarian Cancer D1435ND1435N MissenseMissense DiploidDiploid 66 0.110.11 22
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy#Copy# COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0002956-T01-IM3P-0002956-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma D1435ND1435N MissenseMissense DiploidDiploid 66 0.160.16 1313
P-0004998-T01-IM5P-0004998-T01-IM5 Stomach AenocarcinomaStomach Aenocarcinoma R1446PR1446P MissenseMissense DiploidDiploid 3232 0.360.36 99
P-0005803-T01-IM5P-0005803-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... Y1450NY1450N MissenseMissense DiploidDiploid 22 0.410.41 2929
P-0006032-T01-IM5P-0006032-T01-IM5 Adenoid Cystic CarcinomaAdenoid Cystic Carcinoma Y1450NY1450N MissenseMissense DiploidDiploid 22 0.460.46 44
P-0007656-T01-IM5P-0007656-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma Y1482CY1482C MissenseMissense DiploidDiploid 66 0.590.59 1515
P-0003934-T02-IM5P-0003934-T02-IM5 Follicular LymphomaFollicular Lymphoma W1502RW1502R MissenseMissense DiploidDiploid 66 0.280.28 1111
P-0003934-T03-IM5P-0003934-T03-IM5 Follicular LymphomaFollicular Lymphoma W1502RW1502R MissenseMissense DiploidDiploid 66 0.230.23 1010
P-0003934-T01-IM5P-0003934-T01-IM5 Follicular LymphomaFollicular Lymphoma W1502RW1502R MissenseMissense DiploidDiploid 66 0.380.38 1212
P-0005945-T01-IM5P-0005945-T01-IM5 Follicular LymphomaFollicular Lymphoma Y1482NY1482N MissenseMissense DiploidDiploid 66 0.440.44 99
P-0007623-T01-IM5P-0007623-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma Y1482DY1482D MissenseMissense DiploidDiploid 66 0.050.05 1One
P-0007379-T01-IM5P-0007379-T01-IM5 Follicular LymphomaFollicular Lymphoma L1499RL1499R MissenseMissense DiploidDiploid 33 0.290.29 88
P-0011573-T01-IM5P-0011573-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... W1502C W1502C MissenseMissense DiploidDiploid 66 0.280.28 1111
P-0011582-T01-IM5P-0011582-T01-IM5 Follicular LymphomaFollicular Lymphoma W1472G W1472G MissenseMissense DiploidDiploid 33 0.360.36 1010
P-0000323-T01-IM3P-0000323-T01-IM3 Small Cell Lung CancerSmall Cell Lung Cancer W1502L W1502L MissenseMissense DiploidDiploid 66 0.160.16 1313
P-0005732-T01-IM5P-0005732-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer R1446_T1447delinsLSR1446_T1447delinsLS MissenseMissense DiploidDiploid 0.470.47 1717
P-0006209-T01-IM5P-0006209-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma I1431SI1431S MissenseMissense DiploidDiploid 0.390.39 2727
P-0009940-T01-IM5P-0009940-T01-IM5 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... R1446C R1446C MissenseMissense DiploidDiploid 3232 0.200.20 2121
P-0011387-T01-IM5P-0011387-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma I1431NI1431N MissenseMissense DiploidDiploid 0.220.22 88
P-0006833-T01-IM5P-0006833-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... Y1503N Y1503N MissenseMissense DiploidDiploid 1111 0.360.36 99
P-0012524-T01-IM5P-0012524-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... Y1503N Y1503N MissenseMissense DiploidDiploid 1111 0.320.32 1111
P-0001782-T01-IM3P-0001782-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma V1802MV1802M MissenseMissense DiploidDiploid 1One 0.370.37 2727
P-0003433-T01-IM5P-0003433-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma S1778LS1778L MissenseMissense DiploidDiploid 1One 0.430.43 6363
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0008080-T01-IM5P-008080-T01-IM5 Cutaneous MelanomaCutaneous Melanoma S17778LS17778L MissenseMissense DiploidDiploid 1One 0.230.23 4848
P-0006194-T01-IM5P-0006194-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma T396K T396K MissenseMissense DiploidDiploid 22 0.290.29 88
P-0009484-T01-IM5P-0009484-T01-IM5 Small Bowel CancerSmall Bowel Cancer A1782V A1782V MissenseMissense DiploidDiploid 22 0.060.06 9999
P-0006335-T01-IM5P-0006335-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... Q497*Q497* NonsenseNonsense DiploidDiploid 0.370.37 1616
P-0004330-T01-IM5P-0004330-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma R1360*R1360* Nonsense Nonsense DiploidDiploid 33 0.160.16 6565
P-0004380-T01-IM5P-0004380-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma R1360*R1360* Nonsense Nonsense DiploidDiploid 33 0.110.11 2626
P-0006704-T01-IM5P-0006704-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma R1360*R1360* Nonsense Nonsense DiploidDiploid 33 0.190.19 99
P-0011136-T01-IM5P-0011136-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma R1360*R1360* Nonsense Nonsense DiploidDiploid 33 0.110.11 55
P-0007315-T01-IM5P-0007315-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma R1173*R1173* Nonsense Nonsense DiploidDiploid 55 0.170.17 44
P-0011345-T01-IM5P-0011345-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma R1173*R1173* Nonsense Nonsense DiploidDiploid 55 0.410.41 6666
P-0000423-T01-IM3P-0000423-T01-IM3 Plasmacytoid/Signet Ring Cell...Plasmacytoid/Signet Ring Cell... Q1073*Q1073* Nonsense Nonsense DiploidDiploid 33 0.080.08 1818
P-0000764-T01-IM3P-0000764-T01-IM3 Markel Cell CarcinomaMarkel Cell Carcinoma I1084Sfs*15I1084Sfs*15 FS del FS del DiploidDiploid 55 0.060.06 3737
P-0001073-T01-IM3P-0001073-T01-IM3 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma I1084Sfs*15I1084Sfs*15 FS del FS del DiploidDiploid 55 0.380.38 1010
P-0001703-T01-IM3P-0001703-T01-IM3 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma I1084Sfs*15I1084Sfs*15 FS del FS del DiploidDiploid 55 0.470.47 7676
P-0003524-T01-IM5P-0003524-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma I1084Sfs*15I1084Sfs*15 FS del FS del DiploidDiploid 55 0.270.27 4242
P-0004051-T01-IM5P-0004051-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma I1084Sfs*15I1084Sfs*15 FS del FS del DiploidDiploid 55 0.260.26 7070
P-0004260-T02-IM5P-0004260-T02-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma I1084Sfs*15I1084Sfs*15 FS del FS del DiploidDiploid 55 0.420.42 3232
P0004362-T01-IM5P0004362-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma I1084Sfs*15I1084Sfs*15 FS del FS del DiploidDiploid 55 0.210.21 7070
P-0005842-T01-IM5P-0005842-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma I1084Sfs*15I1084Sfs*15 FS del FS del DiploidDiploid 55 0.280.28 4141
P-0007296-T01-IM5P-0007296-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma I1084Sfs*15I1084Sfs*15 FS del FS del DiploidDiploid 55 0.250.25 9090
P-0008188-T01-IM5P-0008188-T01-IM5 Stomach AdenocarcinomaStomach Adenocarcinoma I1084Sfs*15I1084Sfs*15 FS del FS del DiploidDiploid 55 0.070.07 4848
P-0008345-T01-IM5P-0008345-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma I1084Sfs*15I1084Sfs*15 FS del FS del DiploidDiploid 55 0.360.36 4141
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0009152-T01-IM5P-0009152-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma I1084Sfs*15I1084Sfs*15 FS del FS del DiploidDiploid 55 0.320.32 6060
P-0011239-T02-IM5P-0011239-T02-IM5 Colon AdenocarcinomaColon Adenocarcinoma I1084Sfs*15I1084Sfs*15 FS del FS del DiploidDiploid 55 0.300.30 8484
P-0006265-T01-IM5P-0006265-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma I1084Nfs*3I1084Nfs*3 FS ins FS ins DiploidDiploid 55 0.240.24 2828
P-0010460-T01-IM5P-0010460-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... I1084Nfs*3I1084Nfs*3 FS ins FS ins DiploidDiploid 55 0.100.10 1515
P-0001020-T01-IM3P-0001020-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma P1946Hfs*30P1946Hfs*30 FS delFS del DiploidDiploid 1One 0.160.16 2525
P-0009484-T01-IM5P-0009484-T01-IM5 Small Bowel CancerSmall Bowel Cancer P1946Hfs*30P1946Hfs*30 FS delFS del DiploidDiploid 1One 0.060.06 9999
P-0005443-T01-IM5P-0005443-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma Q1209Tfs*25Q1209Tfs*25 FS insFS ins DiploidDiploid 0.150.15 4343
P-0006026-T01-IM5P-0006026-T01-IM5 Mature B-Cell NeoplasmsMature B-Cell Neoplasms Q1209Tfs*25Q1209Tfs*25 FS inFS in DiploidDiploid 0.210.21 77
P-0008847-T01-IM5P-0008847-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma X1203_spliceX1203_splice SpliceSplice DiploidDiploid 0.250.25 1616
P-0006370-T01-IM5P-0006370-T01-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma Q1796*Q1796* NonsenseNonsense DiploidDiploid 1One 0.060.06 22
P-0006231-T01-IM5P-0006231-T01-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma F1523Sfs*27F1523Sfs*27 FS delFS del DiploidDiploid 0.240.24 55
P-0001774-T01-IM3P-0001774-T01-IM3 SeminomaSeminoma H2384Tfs*12H2384Tfs*12 FS delFS del DiploidDiploid 0.370.37 4545
P-0006111-T01-IM5P-006111-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... H2384Tfs*12H2384Tfs*12 Nonsense Nonsense DiploidDiploid 22 0.170.17 1One
P-0011441-T01-IM5P-0011441-T01-IM5 Anaplastic Thyroid CancerAnaplastic Thyroid Cancer R1498*R1498* Nonsense Nonsense DiploidDiploid 22 0.380.38 1818
P-0000954-T01-IM3P-0000954-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma X1305_spliceX1305_splice SpliceSplice DiploidDiploid 0.150.15 55
P-0006612-T01-IM5P-0006612-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma R1103*R1103* NonsenseNonsense DiploidDiploid 0.090.09 357357
P-0002826-T01-IM3P-0002826-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma R1341*R1341* Nonsense Nonsense DiploidDiploid 55 0.150.15 1313
P-0006754-T01-IM5P-0006754-T01-IM5 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... R1341*R1341* Nonsense Nonsense DiploidDiploid 55 0.070.07 6666
P-0009166-T01-IM5P-0009166-T01-IM5 Diffuse Large B-Cell Lyphoma,...Diffuse Large B-Cell Lyphoma,... R1341*R1341* Nonsense Nonsense DiploidDiploid 55 0.390.39 1212
P-0006114-T01-IM5P-0006114-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma Q1756*Q1756* Nonsense Nonsense DiploidDiploid 22 0.220.22 33
P-0006114-T02-IM5P-0006114-T02-IM5 Lung AdenocarcinomaLung Adenocarcinoma Q1756*Q1756* Nonsense Nonsense DiploidDiploid 22 0.210.21 44
P-0008734-T01-IM5P-0008734-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma Q887*Q887* NonsenseNonsense DiploidDiploid 1One 0.680.68 1919
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0001608-T01-IM3P-0001608-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Q1856*Q1856* NonsenseNonsense DiploidDiploid 0.320.32 1One
P-0004755-T01-IM5P-0004755-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma S985*S985* NonsenseNonsense DiploidDiploid 0.360.36 5151
P-0005076-T01-IM5P-0005076-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma E349*E349* NonsenseNonsense DiploidDiploid 0.260.26 99
P-0000396-T01-IM3P-0000396-T01-IM3 Oropharynx Squamous Cell Card...Oropharynx Squamous Cell Card... R1672*R1672* NonsenseNonsense DiploidDiploid 0.580.58 99
P-0000573-T01-IM3P-0000573-T01-IM3 Oral Cavity Squamous Cell Carc...Oral Cavity Squamous Cell Carc... T1574Pfs*61T1574Pfs*61 FS delFS del DiploidDiploid 0.160.16 2020
P-0002486-T01-IM3P-0002486-T01-IM3 Adenoid Cystic CarcinomaAdenoid Cystic Carcinoma S801Qfs*29S801Qfs*29 FS delFS del DiploidDiploid 0.160.16 33
P-0002463-T01-IM3P-0002463-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma L524Wfs*6L524Wfs*6 FS delFS del DiploidDiploid 0.280.28 5757
P-0002463-T02-IM5P-0002463-T02-IM5 Colon AdenocarcinomaColon Adenocarcinoma L524Wfs*6L524Wfs*6 FS delFS del DiploidDiploid 0.200.20 5555
P-0005443-T01-IM5P-0005443-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma L524Wfs*6L524Wfs*6 FS delFS del DiploidDiploid 0.150.15 4343
P-0009152-T01-IM5P-0009152-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma L524Wfs*6L524Wfs*6 FS delFS del DiploidDiploid 0.350.35 6060
P-0001058-T01-IM3P-0001058-T01-IM3 ChoriocarcinomaChoriocarcinoma Q1928*Q1928* NonsenseNonsense DiploidDiploid 0.310.31 1212
P-0004002-T01-IM3P-0004002-T01-IM3 Yolk Sac TumorYolk Sac Tumor Y1230*Y1230* NonsenseNonsense DiploidDiploid 0.140.14 44
P-0009830-T01-IM5P-0009830-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma Q232Rfs*12Q232Rfs*12 FS delFS del DiploidDiploid 1One 0.160.16 4545
P-0001115-T01-IM3P-0001115-T01-IM3 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma P1423Ls*36P1423Ls*36 FS delFS del DiploidDiploid 0.400.40 5959
P-0006201-T01-IM5P-0006201-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma P1423Ls*36P1423Ls*36 FS delFS del DiploidDiploid 0.180.18 5252
P-0007055-T01-IM5P-0007055-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma P1423Ls*36P1423Ls*36 FS delFS del DiploidDiploid 0.280.28 5555
P-0007995-T01-IM5P-0007995-T01-IM5 Esophagogastric AdenocarcinomaEsophagogastric Adenocarcinoma P1423Ls*36P1423Ls*36 FS delFS del DiploidDiploid 0.160.16 3030
P-0009087-T01-IM5P-0009087-T01-IM5 Neuroendocrine Tumor, NOSNeuroendocrine Tumor, NOS P1423Ls*36P1423Ls*36 FS delFS del DiploidDiploid 0.370.37 3838
P-0010783-T01-IM5P-0010783-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma S1065*S1065* FS delFS del DiploidDiploid 0.270.27 8080
P-0000497-T01-IM3P-0000497-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma S1066Vfs*34S1066Vfs*34 FS insFS ins DiploidDiploid 0.220.22 2626
P-0007882-T01-IM5P-0007882-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma P928Rfs*70P928Rfs*70 FS delFS del DiploidDiploid 0.080.08 4747
P-0008226-T02-IM5P-0008226-T02-IM5 Rectal AdenocarcinomaRectal Adenocarcinoma X406_spliceX406_splice SpliceSplice DiploidDiploid 0.180.18 5858
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-000397-T02-IM5P-000397-T02-IM5 Lung AdenocarcinomaLung Adenocarcinoma Q2235*Q2235* NonsenseNonsense DiploidDiploid 0.220.22 1212
P-0003937-T01-IM5P-0003937-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma Q2235*Q2235* NonsenseNonsense DiploidDiploid 0.120.12 1313
P-0006021-T01-IM5P-0006021-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma Y1726*Y1726* NonsenseNonsense DiploidDiploid 0.130.13 55
P-0006306-T01-IM5P-0006306-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma R440*R440* NonsenseNonsense DiploidDiploid 0.180.18 55
P-0002823-T01-IM3P-0002823-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma Y659*Y659* NonsenseNonsense DiploidDiploid 0.050.05 1616
P-0000290-T01-IM3P-0000290-T01-IM3 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma E1243*E1243* NonsenseNonsense DiploidDiploid 0.290.29 2222
P-0002166-T02-IM5P-0002166-T02-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma Q719*Q719* NonsenseNonsense DiploidDiploid 0.190.19 1010
P-0002166-T01-IM3P-0002166-T01-IM3 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma Q719*Q719* NonsenseNonsense DiploidDiploid 0.450.45 99
P-0003149-T01-IM5P-0003149-T01-IM5 NeuroblastomaNeuroblastoma X1021_spliceX1021_splice SpliceSplice DiploidDiploid 0.100.10 55
P-0003362-T01-IM5P-0003362-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma L545Fs*16L545Fs*16 FS delFS del DiploidDiploid 0.350.35 2727
P-0003561-T01-IM5P-0003561-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma N1612Tfs*23N1612Tfs*23 FS delFS del DiploidDiploid 0.510.51 2424
P-0003566-T01-IM5P-0003566-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma X1427_spliceX1427_splice SpliceSplice DiploidDiploid 0.100.10 3838
P-0003682-T01-IM5P-0003682-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma E1205*E1205* NonsenseNonsense DiploidDiploid 0.260.26 99
P-0004570-T01-IM5P-0004570-T01-IM5 Atypical MeningiomaAtypical Meningioma R1392*R1392* NonsenseNonsense DiploidDiploid 0.190.19 22
P-0007544-T01-IM5P-0007544-T01-IM5 Cutaneous MelanomaCutaneous Melanoma NonsenseNonsense DiploidDiploid 0.130.13 5757
P-0005143-T01-IM5P-0005143-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma S893Pfs*27S893Pfs*27 FS delFS del DiploidDiploid 22 0.320.32 88
P-0005427-T01-IM5P-0005427-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma S1382Yfs*2S1382Yfs*2 FS delFS del DiploidDiploid 0.060.06 2121
P-0006190-T01-IM5P-0006190-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma R386*R386* NonsenseNonsense DiploidDiploid 0.420.42 2929
P-0006714-T01-IM5P-0006714-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma R386*R386* NonsenseNonsense DiploidDiploid 0.420.42 6262
P-0008352-T01-IM5P-0008352-T01-IM5 Ewing SarcomaEwing Sarcoma R386*R386* NonsenseNonsense DiploidDiploid 0.360.36 33
P-0008880-T01-IM5P-0008880-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma R386*R386* NonsenseNonsense DiploidDiploid 0.090.09 2929
P-0006902-T01-IM5P-0006902-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma L243*L243* FS delFS del DiploidDiploid 0.360.36 99
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0008240-T01-IM5P-0008240-T01-IM5 Bladder UrothelialBladder Urothelial H408If*26H408If*26 FS delFS del DiploidDiploid 0.330.33 99
P-0009962-T01-IM5P-0009962-T01-IM5 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... Q540*Q540* NonsenseNonsense DiploidDiploid 0.430.43 2626
P-0012113-T01-IM5P-0012113-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma R424*R424* NonsenseNonsense DiploidDiploid 0.180.18 244244
P-0012402-T01-IM5P-0012402-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma X961_spliceX961_splice SpliceSplice DiploidDiploid 0.180.18 240240
P-0000527-T01-IM3P-0000527-T01-IM3 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma Q517*Q517* NonsenseNonsense DiploidDiploid 0.080.08 1010
P-0002562-T01-IM5P-0002562-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma C14444Hfs*6C14444Hfs*6 FS delFS del DiploidDiploid 0.350.35 99
P-0002562-T01-IM3P-0002562-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma C14444Hfs*6C14444Hfs*6 FS delFS del DiploidDiploid 0.240.24 1212
P-0006201-T01-IM5P-0006201-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma K1505Rfs*45K1505Rfs*45 FS delFS del DiploidDiploid 0.130.13 5252
P-0007045-T01-IM5P-0007045-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E1054Dfs*4E1054Dfs*4 FS delFS del DiploidDiploid 0.110.11 88
P-0007371-T01-IM5P-0007371-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma G1815Pfs*10G1815Pfs*10 FS delFS del DiploidDiploid 0.390.39 77
P-0007750-T01-IM5P-0007750-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E72Afs*10E72Afs*10 FS delFS del DiploidDiploid 0.400.40 33
P-0008774-T01-IM5P-0008774-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E1000*E1000* NonsenseNonsense DiploidDiploid 0.460.46 33
P-0011204-T01-IM5P-0011204-T01-IM5 Mantle Cell LymphomaMantle Cell Lymphoma Q1148*Q1148* NonsenseNonsense DiploidDiploid 0.410.41 55
P-0001440-T01-IM3P-0001440-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma CREBBP-intragenicCREBBP-intragenic FusionFusion DiploidDiploid 66
P-0002050-T01-IM3P-0002050-T01-IM3 Small Cell Lung CancerSmall Cell Lung Cancer CREBBP-intragenicCREBBP-intragenic FusionFusion DiploidDiploid 1010
P-00070000-T01-IM5P-00070000-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma CREBBP-intragenicCREBBP-intragenic FusionFusion DiploidDiploid 1010
P-0007046-T01-IM5P-0007046-T01-IM5 Acinar Cell Carcinoma of the P...Acinar Cell Carcinoma of the P... CREBBP-intragenicCREBBP-intragenic FusionFusion DiploidDiploid 2323
P-0007114-T01-IM5P-0007114-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma CREBBP-intragenicCREBBP-intragenic FusionFusion DiploidDiploid 99
P-0009393-T01-IM5P-0009393-T01-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma CREBBP-intragenicCREBBP-intragenic FusionFusion DiploidDiploid 1One
P-0010740-T01-IM5P-0010740-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer CREBBP-intragenicCREBBP-intragenic FusionFusion DiploidDiploid 1111
P-0000891-T01-IM3P-0000891-T01-IM3 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma V2012Sfs*28V2012Sfs*28 FS delFS del DiploidDiploid 0.240.24 1111
P-0001806-T01-IM3P-0001806-T01-IM3 Hepatocellular CarcinomaHepatocellular Carcinoma N2181Kfs*5N2181Kfs*5 FS delFS del DiploidDiploid 0.460.46 44
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freqq (T)Allele Freqq (T) # Mut in Sample# Mut in Sample
P-0002668-T01-IM3P-0002668-T01-IM3 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma S547*S547* NonsenseNonsense DeepDelDeepDel 0.720.72 1010
P-0005583-T01-IM5P-0005583-T01-IM5 Cutaneous MelanomaCutaneous Melanoma P1947Tfs*19P1947Tfs*19 FS insFS ins DiploidDiploid 0.290.29 77
P-0007296-T01-IM5P-0007296-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma FS insFS ins DiploidDiploid 0.220.22 9090
P-0006800-T01-IM5P-0006800-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma X1465_spliceX1465_splice SpliceSplice DiploidDiploid 0.420.42 99
P-0011439-T01-IM5P-0011439-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma Q357*Q357* NonsenseNonsense DiploidDiploid 0.370.37 2323
P-0002323-T01-IM3P-0002323-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma CREBBP-TRAP1 fusionCREBBP-TRAP1 fusion FusionFusion DiploidDiploid 77
P-0003855-T01-IM5P-0003855-T01-IM5 Follicular LymphomaFollicular Lymphoma X1084_spliceX1084_splice SpliceSplice DiploidDiploid 55 0.220.22 1010
P-0004330-T01-IM5P-0004330-T01-IM5 Upper TractUrothelial CarcinomaUpper TractUrothelial Carcinoma R370*R370* NonsenseNonsense DiploidDiploid 0.180.18 6565
P-0006437-T01-IM5P-0006437-T01-IM5 Skin Adnexal CarcinomaSkin Adnexal Carcinoma X29_spliceX29_splice SpliceSplice DiploidDiploid 0.390.39 9898
P-0000842-T02-IM3P-0000842-T02-IM3 Prostate AdenocarcinomaProstate Adenocarcinoma CREBBP-TIGD7 fusionCREBBP-TIGD7 fusion FusionFusion DiploidDiploid 1One
P-0000386-T01-IM3P-0000386-T01-IM3 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma E1626*E1626* NonsenseNonsense DiploidDiploid 0.050.05 77
P-0000908-T01-IM3P-0000908-T01-IM3 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma E371Kfs*53E371Kfs*53 FS delFS del DiploidDiploid 0.080.08 2929
P-0001009-T01-IM3P-0001009-T01-IM3 Mixed Germ Cell TumorMixed Germ Cell Tumor S381*S381* NonsenseNonsense DiploidDiploid 0.090.09 44
P-0001030-T01-IM3P-0001030-T01-IM3 Anal Aquamous Cell CarcinomaAnal Aquamous Cell Carcinoma S1172Qfs*7S1172Qfs*7 FS insFS ins DiploidDiploid 0.260.26 1One
P-0001851-T01-IM3P-0001851-T01-IM3 Adrenocortical CarcinomaAdrenocortical Carcinoma Q2103*Q2103* NonsenseNonsense DiploidDiploid 0.190.19 3636
P-0002638-T01-IM3P-0002638-T01-IM3 Glioblastoma MultiformeGlioblastoma Multiforme X705_spliceX705_splice SpliceSplice DiploidDiploid 0.090.09 77
P-0003149-T01-IM5P-0003149-T01-IM5 NeuroblastomaNeuroblastoma S331*S331* NonsenseNonsense DiploidDiploid 0.190.19 55
P-0003218-T01-IM5P-0003218-T01-IM5 Malignant Phyllodes Tumor of t...Malignant Phyllodes Tumor of t... Q1852*Q1852* NonsenseNonsense DiploidDiploid 0.380.38 1One
P-0003804-T01-IM5P-0003804-T01-IM5 Poorly Differentiated Thyroid...Poorly Differentiated Thyroid... Y656Tfs*7Y656Tfs*7 FS delFS del DiploidDiploid 0.410.41 33
P-0004062-T01-IM5P-0004062-T01-IM5 Follicular LymphomaFollicular Lymphoma X1378_spliceX1378_splice SpliceSplice DiploidDiploid 0.410.41 1111
P-0011564-T01-IM5P-0011564-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... X1378_spliceX1378_splice SpliceSplice DiploidDiploid 0.220.22 1010
P-0004260-T01-IM5P-0004260-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma E1061Rfs*4E1061Rfs*4 FS delFS del DiploidDiploid 0.290.29 6161
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0004595-T01-IM5P-0004595-T01-IM5 Pancreatic Neuroendocrine TumorPancreatic Neuroendocrine Tumor P2077Afs*264P2077Afs*264 FS insFS ins DiploidDiploid 0.840.84 44
P-0004733-T01-IM5P-0004733-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma S2055Afs*20S2055Afs*20 FS delFS del DiploidDiploid 0.480.48 1212
P-0004821-T01-IM5P-0004821-T01-IM5 High-Grade Serous Ovarian CancerHigh-Grade Serous Ovarian Cancer K1051Rfs*5K1051Rfs*5 FS delFS del DiploidDiploid 0.320.32 1111
P-0004879-T01-IM5P-0004879-T01-IM5 NeuroblastomaNeuroblastoma V1057*V1057* FS delFS del DiploidDiploid 0.300.30 22
P-0005117-T01-IM5P-0005117-T01-IM5 Basal Cell CarcinomaBasal Cell Carcinoma H397Afs*30H397Afs*30 FS insFS ins DiploidDiploid 0.160.16 55
P-0005525-T01-IM5P-0005525-T01-IM5 Papillary Thyroid CancerPapillary Thyroid Cancer Y1828*Y1828* NonsenseNonsense DiploidDiploid 0.360.36 1111
P-0005765-T01-IM5P-0005765-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... X406_spliceX406_splice SpliceSplice DiploidDiploid 0.290.29 66
P-0010744-T01-IM5P-0010744-T01-IM5 Anaplastic OligodendrogliomaAnaplastic Oligodendroglioma X406_spliceX406_splice SpliceSplice DiploidDiploid 0.250.25 102102
P-0006092-T01-IM5P-0006092-T01-IM5 Desmoplastic Samll-Round-Cell...Desmoplastic Samll-Round-Cell... S1737Rfs*8S1737Rfs*8 FS insFS ins DiploidDiploid 0.410.41 22
P-0006119-T01-IM5P-0006119-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme X1305_spliceX1305_splice SpliceSplice DiploidDiploid 0.060.06 8686
P-0006485-T01-IM5P-0006485-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma L1692Rfs*50L1692Rfs*50 FS delFS del DiploidDiploid 0.320.32 1212
P-0007020-T01-IM5P-0007020-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer C1178Afs*72C1178Afs*72 FS delFS del DiploidDiploid 0.550.55 77
P-0007156-T01-IM5P-0007156-T01-IM5 Chronic Lymphocytic Leukemia/S...Chronic Lymphocytic Leukemia/S... G587Kfs*19G587Kfs*19 FS delFS del DiploidDiploid 0.060.06 55
P-0007682-T01-IM5P-0007682-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma C1311*C1311* FS delFS del DiploidDiploid 0.420.42 1111
P-0007755-T01-IM5P-0007755-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma K68*K68* NonsenseNonsense DiploidDiploid 0.300.30 1818
P-0008185-T01-IM5P-0008185-T01-IM5 Nasopharyngeal CarcinomaNasopharyngeal Carcinoma Q963*Q963* NonsenseNonsense DiploidDiploid 0.110.11 1717
P-0007076-T03-IM5P-0007076-T03-IM5 Neuroendocrine Carcinoma, NOSNeuroendocrine Carcinoma, NOS M784Ifs*17M784Ifs*17 FS delFS del DiploidDiploid 0.590.59 168168
P-0004524-T02-IM5P-0004524-T02-IM5 High-Grade Serous Ovarian CancerHigh-Grade Serous Ovarian Cancer Q356*Q356* NonsenseNonsense DeepDelDeepDel 0.090.09 99
P-0009290-T01-IM5P-0009290-T01-IM5 Pleural Mesothelioma, Epitheli...Pleural Mesothelioma, Epitheli... T163Afs*13T163Afs*13 FS delFS del DiploidDiploid 0.530.53 77
P-0010569-T01-IM5P-0010569-T01-IM5 Cancer of Unknow PrimaryCancer of Unknow Primary X1575_spliceX1575_splice SpliceSplice DiploidDiploid 0.210.21 2424
P-0010803-T01-IM5P-0010803-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma R2004*R2004* NonsenseNonsense DiploidDiploid 0.080.08 8686
P-0006570-T02-IM5P-006570-T02-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma E1559*E1559* NonsenseNonsense DiploidDiploid 0.230.23 55
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0010830-T01-IM5P-0010830-T01-IM5 Pancreatic Neuroendocrine TumorPancreatic Neuroendocrine Tumor Q203*Q203* NonsenseNonsense DiploidDiploid 0.680.68 44
P-0011034-T01-IM5P-0011034-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer Q919*Q919* NonsenseNonsense DiploidDiploid 0.300.30 1010
P-0011159-T01-IM5P-0011159-T01-IM5 Follicular Thyroid CancerFollicular Thyroid Cancer X266_spliceX266_splice SpliceSplice DiploidDiploid 0.360.36 66
P-0011393-T01-IM5P-0011393-T01-IM5 Salivary CarcinomaSalivary Carcinoma X525_spliceX525_splice SpliceSplice DiploidDiploid 0.360.36 66
P-0011393-T01-IM5P-0011393-T01-IM5 Salivary CarcinomaSalivary Carcinoma G77Afs*9G77Afs*9 FS insFS ins DiploidDiploid 0.290.29 66
P-0011432-T01-IM5P-0011432-T01-IM5 Head and Neck Squamous Cell Ca...Head and Neck Squamous Cell Ca... I1493Yfs*57I1493Yfs*57 FS delFS del DiploidDiploid 1One 0.340.34 5555
P-0012205-T01-IM5P-0012205-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma K1051*K1051* NonsenseNonsense DiploidDiploid 0.280.28 1111
P-0012285-T01-IM5P-0012285-T01-IM5 ThymomaThymoma E594Dfs*11E594Dfs*11 FS delFS del DiploidDiploid 0.220.22 1One
P-0001890-T01-IM3P-0001890-T01-IM3 Cancer of Unknown PrimaryCancer of Unknown Primary X406_spliceX406_splice SpliceSplice DiploidDiploid 0.450.45 99
P-0006614-T01-IM5P-0006614-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... Q1041*Q1041* NonsenseNonsense DiploidDiploid 0.250.25 99
P-0007154-T01-IM5P-0007154-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... Q1941*Q1941* NonsenseNonsense DiploidDiploid 0.390.39 44
P-0007379-T01-IM5P-0007379-T01-IM5 Follicular LymphomaFollicular Lymphoma Y1460*Y1460* NonsenseNonsense DiploidDiploid 0.270.27 88
P-0007557-T01-IM5P-0007557-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... S1030_K1033delins*S1030_K1033delins* NonsenseNonsense DiploidDiploid 0.530.53 1515
P-0009696-T01-IM5P-0009696-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... S1598Kfs*19S1598Kfs*19 FS insFS ins DiploidDiploid 0.370.37 1313
P-0010779-T01-IM5P-0010779-T01-IM5 Angioimmunoblastic T-Cell Lymp...Angioimmunoblastic T-Cell Lymp... C1783Afs*16C1783Afs*16 FS delFS del DiploidDiploid 0.080.08 33
P-0010969-T01-IM5P-0010969-T01-IM5 Follicular LymphomaFollicular Lymphoma I1189Lfs*61I1189Lfs*61 FS delFS del DiploidDiploid 0.160.16 77
P-0011573-T01-IM5P-0011573-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... X1465_spliceX1465_splice SpliceSplice DiploidDiploid 0.130.13 1111
P-0011564-T01-IM5P-0011564-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... W1158*W1158* NonsenseNonsense DiploidDiploid 0.120.12 1010
P-0010172-T01-IM5P-0010172-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma TSG1-CREBBP fusionTSG1-CREBBP fusion FusionFusion DiploidDiploid 77
P-0003860-T01-IM5P-0003860-T01-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary CREBBP-SRRM2 fusionCREBBP-SRRM2 fusion FusionFusion DiploidDiploid 88
P-000454-T01-IM5P-000454-T01-IM5 Pleural MesotheliomaPleural Mesothelioma CREBBP-TBL3 fusionCREBBP-TBL3 fusion FusionFusion DiploidDiploid 33
P-0010460-T01-IM5P-0010460-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... CREBBP-DNASE1 fusionCREBBP-DNASE1 fusion FusionFusion DiploidDiploid 1515
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0002715-T01-IM3P-0002715-T01-IM3 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma E1550QE1550Q MissenseMissense DiploidDiploid 1One 0.130.13 1515
P-0007385-T01-IM5P-0007385-T01-IM5 Extrhepatic ChlangiocarcinomaExtrepatic Chlangiocarcinoma S2372LS2372L MissenseMissense DiploidDiploid 1One 0.150.15 99
P-0004954-T01-IM5P-0004954-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma T1688M T1688M MissenseMissense DiploidDiploid 22 0.140.14 4141
P-0004954-T02-IM5P-0004954-T02-IM5 High-Grade Neuroendocrine Carc...High-Grade Neuroendocrine Carc... T1688M T1688M MissenseMissense DiploidDiploid 22 0.260.26 4747
P-0009892-T01-IM5P-0009892-T01-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma R2104C R2104C MissenseMissense DiploidDiploid 33 0.090.09 4646
P-0006612-T01-IM5P-0006612-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma R1664C R1664C MissenseMissense DiploidDiploid 55 0.210.21 357357
P-0007596-T01-IM5P-0007596-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma T1260MT1260M MissenseMissense DiploidDiploid 0.090.09 5858
P-0005845-T01-IM5P-0005845-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma T950MT950M MissenseMissense DiploidDiploid 1One 0.060.06 33
P-0006879-T01-IM5P-0006879-T01-IM5 Glioblastoms MultiformeGlioblastoms Multiforme C1408YC1408Y MissenseMissense DiploidDiploid 1One 0.330.33 99
P-0007273-T01-IM5P-0007273-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... C1408YC1408Y MissenseMissense DiploidDiploid 1One 0.550.55 99
P-0006612-T01-IM5P-0006612-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma R424QR424Q MissenseMissense DiploidDiploid 0.240.24 357357
P-0012358-T01-IM5P-0012358-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma R424QR424Q MissenseMissense DiploidDiploid 0.450.45 455455
P-0001042-T01-IM3P-0001042-T01-IM3 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... R625H R625H MissenseMissense DiploidDiploid 33 0.130.13 263263
P-0004436-T01-IM5P-0004436-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma R625H R625H MissenseMissense DiploidDiploid 33 0.300.30 66
P-0001042-T01-IM3P-0001042-T01-IM3 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... R1081HR1081H MissenseMissense DiploidDiploid 1One 0.150.15 263263
P-0006249-T01-IM5P-0006249-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R601QR601Q MissenseMissense DiploidDiploid 1One 0.270.27 1010
P-0001685-T02-IM3P-0001685-T02-IM3 Colon AdenocarcinomaColon Adenocarcinoma P248LP248L MissenseMissense DiploidDiploid 0.130.13 5757
P-0000386-T01-IM3P-0000386-T01-IM3 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma M1798IM1798I MissenseMissense DiploidDiploid 0.090.09 77
P-0004714-T01-IM5P-0004714-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma S1072FS1072F MissenseMissense DiploidDiploid 0.140.14 1212
P-0005127-T02-IM5P-0005127-T02-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary P949LP949L MissenseMissense DiploidDiploid 0.470.47 9393
P-0005127-T01-IM5P-0005127-T01-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary P949LP949L MissenseMissense DiploidDiploid 0.430.43 9797
P-0007108-T01-IM5P-0007108-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma A1824T A1824T MissenseMissense DiploidDiploid 22 0.230.23 77
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0006026-T01-IM5P-0006026-T01-IM5 Stomach AdenocarcinomaStomach Adenocarcinoma R1682HR1682H MissenseMissense DiploidDiploid 1One 0.070.07 77
P-0008729-T01-IM5P-0008729-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma R1428CR1428C MissenseMissense DiploidDiploid 1One 0.210.21 5151
P-0006700-T01-IM5P-0006700-T01-IM5 Stomach AdenocarcinomaStomach Adenocarcinoma A206VA206V MissenseMissense DiploidDiploid 0.080.08 1111
P-0009910-T01-IM5P-0009910-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma Y1167CY1167C MissenseMissense DiploidDiploid 0.440.44 1515
P-0005129-T01-IM5P-0005129-T01-IM5 Cutaneous MelanomaCutaneous Melanoma A2144VA2144V MissenseMissense DiploidDiploid 1One 0.250.25 1010
P-0003555-T01-IM5P-0003555-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma V1650IV1650I MissenseMissense DiploidDiploid 1One 0.140.14 7171
P-0012084-T01-IM5P-0012084-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma A259T A259T MissenseMissense DiploidDiploid 22 0.180.18 1616
P-0007995-T02-IM5P-0007995-T02-IM5 Stomach AdenocarcinomaStomach Adenocarcinoma V1634M V1634M MissenseMissense DiploidDiploid 22 0.060.06 3333
P-0008565-T01-IM5P-0008565-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma T872MT872M MissenseMissense DiploidDiploid 1One 0.390.39 1313
P-0000506-T01-IM3P-0000506-T01-IM3 Poorly Differentiated Thyroid...Poorly Differentiated Thyroid... R1427WR1427W MissenseMissense DiploidDiploid 0.510.51 44
P-0002204-T01-IM3P-0002204-T01-IM3 Anaplastic Thyroid CancerAnaplastic Thyroid Cancer S1136YS1136Y MissenseMissense DiploidDiploid 0.180.18 1111
P-0011404-T01-IM5P-0011404-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer D1481ND1481N MissenseMissense DiploidDiploid 0.450.45 99
P-0006480-T01-IM5P-0006480-T01-IM5 Mammary Analogue Secretory Car...Mammary Analogue Secretory Car... E1243DE1243D MissenseMissense DiploidDiploid 0.430.43 44
P-0012402-T01-IM5P-0012402-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma F1439LF1439L MissenseMissense DiploidDiploid 1One 0.140.14 240240
P-0003650-T01-IM5P-0003650-T01-IM5 Stomach AdenocarcinomaStomach Adenocarcinoma R1319QR1319Q MissenseMissense DiploidDiploid 1One 0.160.16 6363
P-0001042-T01-IM3P-0001042-T01-IM3 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... R714C R714C MissenseMissense DiploidDiploid 22 0.120.12 263263
P-0000649-T01-IM3P-0000649-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma E1012KE1012K MissenseMissense DiploidDiploid 1One 0.090.09 88
P-0003475-T01-IM5P-0003475-T01-IM5 Rectal AdenocarcinomaRectal Adenocarcinoma R1347WR1347W MissenseMissense DiploidDiploid 1One 0.150.15 77
P-0004755-T01-IM5P-0004755-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma D1481GD1481G MissenseMissense DiploidDiploid 0.440.44 5151
P-0004092-T01-IM5P-0004092-T01-IM5 Merkel Cell CarcinomaMerkel Cell Carcinoma D1273ND1273N MissenseMissense DiploidDiploid 0.490.49 9393
P-0000705-T01-IM3P-0000705-T01-IM3 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... A1944PA1944P MissenseMissense DiploidDiploid 0.090.09 6262
P-0000705-T01-IM3P-0000705-T01-IM3 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... K1809RK1809R MissenseMissense DiploidDiploid 0.150.15 6262
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0000705-T01-IM3P-0000705-T01-IM3 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... E1247KE1247K MissenseMissense DiploidDiploid 0.130.13 6262
P-0001229-T01-IM3P-0001229-T01-IM3 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... P2038LP2038L MissenseMissense DiploidDiploid 0.250.25 6464
P-0003610-T01-IM5P-0003610-T01-IM5 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... G706RG706R MissenseMissense DiploidDiploid 0.140.14 2525
P-0004641-T01-IM5P-0004641-T01-IM5 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... P766LP766L MissenseMissense DiploidDiploid 0.170.17 4545
P-0004423-T01-IM5P-0004423-T01-IM5 Merkel Cell CarcinomaMerkel Cell Carcinoma P928SP928S MissenseMissense DiploidDiploid 1One 0.180.18 3131
P-0007159-T01-IM5P-0007159-T01-IM5 Intestinal Type Stomach Adenoc...Intestinal Type Stomach Adenoc... R1800Q R1800Q MissenseMissense DiploidDiploid 22 0.260.26 44
P-0004928-T01-IM5P-0004928-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma V1371FV1371F MissenseMissense DiploidDiploid 0.470.47 88
P-0001042-T01-IM3P-0001042-T01-IM3 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... R714HR714H MissenseMissense DiploidDiploid 0.230.23 263263
P-0006612-T01-IM5P-0006612-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma S945LS945L MissenseMissense DiploidDiploid 0.140.14 357357
P-0011305-T01-IM5P-0011305-T01-IM5 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS S945LS945L MissenseMissense DiploidDiploid 0.140.14 1818
P-0002247-T01-IM3P-0002247-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma A557TA557T MissenseMissense DiploidDiploid 0.060.06 1919
P-0004783-T01-IM5P-0004783-T01-IM5 Rectal AdenocarcinomaRectal Adenocarcinoma R669WR669W MissenseMissense DiploidDiploid 0.190.19 4848
P-0004379-T01-IM5P-0004379-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma R1392QR1392Q MissenseMissense DiploidDiploid 1One 0.320.32 439439
P-0005966-T01-IM5P-0005966-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma R1392QR1392Q MissenseMissense DiploidDiploid 1One 0.190.19 55
P-0001629-T01-IM3P-0001629-T01-IM3 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma S71LS71L MissenseMissense DiploidDiploid 1One 0.270.27 55
P-0009821-T01-IM5P-0009821-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S71LS71L MissenseMissense DiploidDiploid 1One 0.120.12 88
P-0011357-T01-IM5P-0011357-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma S71LS71L MissenseMissense DiploidDiploid 1One 0.100.10 206206
P-0006731-T01-IM5P-0006731-T01-IM5 Melanoma of Unknown PrimaryMelanoma of Unknown Primary S32LS32L MissenseMissense DiploidDiploid 0.250.25 1616
P-0007269-T01-IM5P-0007269-T01-IM5 Endocervical AdenocarcinomaEndocervical Adenocarcinoma G896RG896R MissenseMissense DiploidDiploid 1One 0.330.33 66
P-0007052-T01-IM5P-0007052-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma R1602HR1602H MissenseMissense DiploidDiploid 1One 0.300.30 5858
P-0009116-T01-IM5P-0009116-T01-IM5 Epithelioid HemangioendotheliomaEpithelioid Hemangioendothelioma R519KR519K MissenseMissense DiploidDiploid 0.480.48 33
P-0004092-T01-IM5P-0004092-T01-IM5 Markel Cell CarcinomaMarkel Cell Carcinoma C1240YC1240Y MissenseMissense DiploidDiploid 1One 0.320.32 9393
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0002579-T01-IM3P-0002579-T01-IM3 Mixed Germ Cell TumorMixed Germ Cell Tumor N645KN645K MissenseMissense DiploidDiploid 0.060.06 1One
P-0001325-T02-IM5P-0001325-T02-IM5 Prostate Small Cell CarcinomaProstate Small Cell Carcinoma P107LP107L MissenseMissense DiploidDiploid 0.460.46 3636
P-0001325-T01-IM3P-0001325-T01-IM3 Prostate Small Cell CarcinomaProstate Small Cell Carcinoma MissenseMissense DiploidDiploid 0.420.42 2626
P-0004910-T03-IM5P-0004910-T03-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma Y1973HY1973H MissenseMissense DiploidDiploid 0.050.05 4040
P-0009044-T01-IM5P-0009044-T01-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma N2141KN2141K MissenseMissense DiploidDiploid 0.350.35 55
P-0006437-T01-IM5P-0006437-T01-IM5 Skin Adnexal CarcinomaSkin Adnexal Carcinoma S554FS554F MissenseMissense DiploidDiploid 0.300.30 9898
P-0007168-T01-IM5P-0007168-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma R742LR742L MissenseMissense DiploidDiploid 1One 0.100.10 88
P-0005443-T01-IM5P-0005443-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma Q963HQ963H MissenseMissense DiploidDiploid 0.180.18 4343
P-0000862-T01-IM3P-0000862-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma T862MT862M MissenseMissense DiploidDiploid 0.320.32 4949
P-0003282-T01-IM5P-0003282-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma G21DG21D MissenseMissense DiploidDiploid 0.370.37 55
P-0005823-T01-IM5P-0005823-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma K1588delK1588del IF delIF del DiploidDiploid 0.240.24 9090
P-0004362-T01-IM5P-0004362-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma A698VA698V MissenseMissense DiploidDiploid 0.200.20 7070
P-0004362-T01-IM5P-0004362-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma A533TA533T MissenseMissense DiploidDiploid 0.360.36 7070
P-0006960-T01-IM5P-0006960-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma G2010EG2010E MissenseMissense DiploidDiploid 0.050.05 351351
P-0006960-T01-IM5P-0006960-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma A1510VA1510V MissenseMissense DiploidDiploid 0.370.37 351351
P-0010330-T01-IM5P-0010330-T01-IM5 Rectal AdenocarcinomaRectal Adenocarcinoma A1510VA1510V MissenseMissense DiploidDiploid 0.220.22 1010
P-0006960-T01-IM5P-0006960-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma P907SP907S MissenseMissense DiploidDiploid 0.350.35 351351
P-0006752-T01-IM5P-0006752-T01-IM5 Stomach AdenocarcinomaStomach Adenocarcinoma R1851HR1851H MissenseMissense DiploidDiploid 0.100.10 4141
P-0005326-T01-IM5P-0005326-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma Q2292RQ2292R MissenseMissense DiploidDiploid 0.150.15 8282
P-0005824-T01-IM5P-0005824-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma Q249HQ249H MissenseMissense DiploidDiploid 0.160.16 347347
P-0005230-T01-IM5P-0005230-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma R1498QR1498Q MissenseMissense DiploidDiploid 0.050.05 6565
P-0010499-T01-IM5P-0010499-T01-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary N530SN530S MissenseMissense DiploidDiploid 0.150.15 156156
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0010783-T01-IM5P-0010783-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma S1923RS1923R MissenseMissense DiploidDiploid 0.270.27 8080
P-0009871-T01-IM5P-0009871-T01-IM5 Rectal AdenocarcinomaRectal Adenocarcinoma G1145WG1145W MissenseMissense DiploidDiploid 0.120.12 66
P-0012402-T01-IM5P-0012402-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma K1139TK1139T MissenseMissense DiploidDiploid 1One 0.180.18 240240
P-0000561-T01-IM3P-0000561-T01-IM3 Mucinous Adenocarcinoma of the...Mucinous Adenocarcinoma of the... R1866CR1866C MissenseMissense DiploidDiploid 0.160.16 2323
P-0007863-T01-IM5P-0007863-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma R1866CR1866C MissenseMissense DiploidDiploid 0.050.05 55
P-0011282-T01-IM5P-0011282-T01-IM5 Rectal AdenocarcinomaRectal Adenocarcinoma R1866CR1866C MissenseMissense DiploidDiploid 0.200.20 22
P-0001685-T01-IM3P-0001685-T01-IM3 Rectal AdenocarcinomaRectal Adenocarcinoma P2285HP2285H MissenseMissense DiploidDiploid 0.220.22 9898
P-0006612-T01-IM5P-0006612-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma A1398VA1398V MissenseMissense DiploidDiploid 0.150.15 357357
P-0002163-T01-IM3P-0002163-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma M2192IM2192I MissenseMissense DiploidDiploid 0.290.29 2222
P-0010504-T01-IM5P-0010504-T01-IM5 Medullary Carcinoma of the ColonMedullary Carcinoma of the Colon T1923MT1923M MissenseMissense DiploidDiploid 0.260.26 107107
P-0000491-T01-IM3P-0000491-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma Q1698LQ1698L MissenseMissense DiploidDiploid 0.240.24 2626
P-0007882-T01-IM5P-0007882-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma G1699DG1699D MissenseMissense DiploidDiploid 0.180.18 4747
P-0012115-T01-IM5P-0012115-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma E1020GE1020G MissenseMissense DiploidDiploid 22 0.100.10 5353
P-0012115-T01-IM5P-0012115-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma N522SN522S MissenseMissense DiploidDiploid 0.140.14 5353
P-0011226-T01-IM5P-0011226-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma P1889LP1889L MissenseMissense DiploidDiploid 0.240.24 7676
P-0007147-T01-IM5P-0007147-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma H2178YH2178Y MissenseMissense DiploidDiploid 0.230.23 204204
P-0007147-T01-IM5P-0007147-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma P2011SP2011S MissenseMissense DiploidDiploid 0.170.17 204204
P-0007147-T01-IM5P-0007147-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma I1455NI1455N MissenseMissense DiploidDiploid 0.250.25 204204
P-0005080-T01-Im5P-0005080-T01-Im5 Lung AdenocarcinomaLung Adenocarcinoma S2065NS2065N MissenseMissense DiploidDiploid 0.210.21 4141
P-0004707-T01-IM5P-0004707-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma K1269NK1269N MissenseMissense DiploidDiploid 0.080.08 2121
P-0001365-T02-IM3P-0001365-T02-IM3 Lung AdenocarcinomaLung Adenocarcinoma Q1928HQ1928H MissenseMissense DiploidDiploid 0.150.15 1111
P-0009256-T01-IM5P-0009256-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma A259SA259S MissenseMissense DiploidDiploid 22 0.300.30 1010
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0012394-T01-IM5P-0012394-T01-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary A259SA259S MissenseMissense Diploid Diploid 22 0.410.41 1717
P-0001375-T01-IM3P-0001375-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma R2353WR2353W MissenseMissense DiploidDiploid 0.100.10 1212
P-0003773-T01-IM5P-0003773-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma Y1828CY1828C MissenseMissense DiploidDiploid 0.050.05 66
P-0001571-T01-IM3P-0001571-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma N797KN797K MissenseMissense DiploidDiploid 0.110.11 1717
P-0001397-T01-IM3P-0001397-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma P496LP496L MissenseMissense DiploidDiploid 0.400.40 1717
P-0000671-T01-IM3P-0000671-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma R1378LR1378L MissenseMissense DiploidDiploid 1One 0.310.31 3838
P-0000263-T01-IM3P-0000263-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma S791TS791T MissenseMissense DiploidDiploid 0.120.12 44
P-0000583-T01-IM3P-0000583-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma G1404SG1404S MissenseMissense DiploidDiploid 1One 0.060.06 1010
P-0006642-T01-IM5P-0006642-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma Q1941LQ1941L MissenseMissense DiploidDiploid 0.130.13 2121
P-0008837-T01-IM5P-0008837-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma T959AT959A MissenseMissense DiploidDiploid 0.340.34 1919
P-0010501-T01-IM5P-0010501-T01-IM5 Stomach AdenocarcinomaStomach Adenocarcinoma S2076LS2076L MissenseMissense DiploidDiploid 0.050.05 1010
P-0005736-T01-IM5P-0005736-T01-IM5 Stomach AdenocarcinomaStomach Adenocarcinoma H1451RH1451R MissenseMissense DiploidDiploid 0.150.15 55
P-0005179-T01-IM5P-0005179-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma Q887KQ887K MissenseMissense DiploidDiploid 0.140.14 1414
P-0005173-T01-IM5P-0005173-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma L1211SL1211S MissenseMissense DiploidDiploid 0.120.12 1313
P-0006663-T01-IM5P-0006663-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma R1800LR1800L MissenseMissense DiploidDiploid 22 0.160.16 2020
P-0004488-T01-IM5P-0004488-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma V992LV992L MissenseMissense DiploidDiploid 0.240.24 1010
P-0002105-T01-IM3P-0002105-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma I678MI678M MissenseMissense DiploidDiploid 0.420.42 3434
P-0002551-T01-IM3P-0002551-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma G252CG252C MissenseMissense DiploidDiploid 0.300.30 1616
P-0002151-T01-IM3P-0002151-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma H1470LH1470L MissenseMissense DiploidDiploid 0.090.09 99
P-0003165-T01-IM5P-0003165-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma Q1113HQ1113H MissenseMissense DiploidDiploid 0.470.47 2424
P-0001224-T01-IM3P-0001224-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma Q102RQ102R MissenseMissense DiploidDiploid 0.480.48 2222
P-0001808-T01-IM3P-0001808-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma D2433GD2433G MissenseMissense DiploidDiploid 0.180.18 159159
Figure PCTKR2022000311-appb-img-000002
Figure PCTKR2022000311-appb-img-000002
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0000617-T01-IM3P-0000617-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma N374IN374I MissenseMissense DiploidDiploid 0.180.18 55
P-0000947-T01-IM3P-0000947-T01-IM3 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS Q1879EQ1879E MissenseMissense DiploidDiploid 0.050.05 99
P-0001085-T01-IM3P-0001085-T01-IM3 Uterine Carcinosarcoma/Uterine...Uterine Carcinosarcoma/Uterine... Q2216delQ2216del IF delIF del DiploidDiploid 0.060.06 33
P-0001751-T01-IM3P-0001751-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma G2162RG2162R MissenseMissense DiploidDiploid 0.210.21 22
P-0002124-T01-IM3P-0002124-T01-IM3 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... E1400QE1400Q MissenseMissense DiploidDiploid 0.300.30 3939
P-0005449-T01-IM5P-0005449-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma E1400QE1400Q MissenseMissense DiploidDiploid 0.260.26 3636
P-0002582-T01-IM3P-0002582-T01-IM3 Breast Mixed Ductal and Lobula...Breast Mixed Ductal and Lobula... F1540SF1540S MissenseMissense DiploidDiploid 0.110.11 77
P-0002915-T01-IM3P-0002915-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S893WS893W MissenseMissense DiploidDiploid 66 0.190.19 99
P-0003885-T01-IM5P-0003885-T01-IM5 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS E151KE151K MissenseMissense DiploidDiploid 0.070.07 2626
P-0003885-T01-IM5P-0003885-T01-IM5 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS H1351DH1351D MissenseMissense DiploidDiploid 0.060.06 2626
P-0004379-T01-IM5P-0004379-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma S479IS479I MissenseMissense DiploidDiploid 0.330.33 439439
P-0005366-T01-IM5P-0005366-T01-IM5 Cutaneous MelanomaCutaneous Melanoma H1485YH1485Y MissenseMissense DiploidDiploid 0.480.48 151151
P-0007129-T01-IM5P-0007129-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... H1485YH1485Y MissenseMissense DiploidDiploid 0.240.24 1111
P-0007129-T02-IM5P-0007129-T02-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... H1485YH1485Y MissenseMissense DiploidDiploid 0.470.47 1515
P-0006166-T01-IM5P-0006166-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... D1276HD1276H MissenseMissense DiploidDiploid 0.250.25 1414
P-0006675-T01-IM5P-0006675-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Q2299KQ2299K MissenseMissense DiploidDiploid 0.240.24 44
P-0006809-T01-IM5P-006809-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E1626QE1626Q MissenseMissense DiploidDiploid 0.180.18 1010
P-0006849-T01-IM5P-0006849-T01-IM5 Uterine Undifferentiated Carci...Uterine Undifferentiated Carci... T320IT320I MissenseMissense DiploidDiploid 0.390.39 3636
P-0007072-T01-IM5P-0007072-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Q1152EQ1152E MissenseMissense DiploidDiploid 0.360.36 66
P-0007685-T02-IM5P-0007685-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S2377LS2377L MissenseMissense DiploidDiploid 1One 0.110.11 33
P-0007488-T02-IM5P-0007488-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma K1271RK1271R MissenseMissense DiploidDiploid 0.060.06 88
P-0008994-T01-IM5P-0008994-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... R1960QR1960Q MissenseMissense DiploidDiploid 0.070.07 1616
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0009936-T01-IM5P-0009936-T01-IM5 Breast Mixed Ductal and Lobula...Breast Mixed Ductal and Lobula... E1528KE1528K MissenseMissense DiploidDiploid 0.260.26 99
P-0012069-T01-IM5P-0012069-T01-IM5 Follicular LymphomaFollicular Lymphoma Y1433HY1433H MissenseMissense DiploidDiploid 0.210.21 1010
P-0000596-T01-IM3P-0000596-T01-IM3 Melanoma of Unknown PrimaryMelanoma of Unknown Primary L1329RL1329R MissenseMissense DiploidDiploid 0.140.14 3838
P-0000944-T01-IM3P-0000944-T01-IM3 Glioblastoma MultiformeGlioblastoma Multiforme A2392TA2392T MissenseMissense DiploidDiploid 0.080.08 111111
P-0005544-T01-IM5P-0005544-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma A2392TA2392T MissenseMissense DiploidDiploid 0.070.07 44
P-0001042-T01-IM3P-0001042-T01-IM3 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... A2419VA2419V MissenseMissense DiploidDiploid 0.200.20 263263
P-0001081-T01-IM3P-0001081-T01-IM3 Cutaneous MelanomaCutaneous Melanoma Y1125HY1125H MissenseMissense DiploidDiploid 1One 0.500.50 4141
P-0001485-T01-IM3P-0001485-T01-IM3 Cutaneous MelanomaCutaneous Melanoma S1207FS1207F MissenseMissense DiploidDiploid 0.120.12 6868
P-0008480-T01-IM5P-0008480-T01-IM5 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... S1207FS1207F MissenseMissense DiploidDiploid 0.250.25 107107
P-0003188-T01-IM5P-0003188-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma E1088KE1088K MissenseMissense DiploidDiploid 0.210.21 1717
P-0003377-T01-IM5P-0003377-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma R1317KR1317K MissenseMissense DiploidDiploid 0.130.13 1414
P-0003555-T01-IM5P-0003555-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma V2149MV2149M MissenseMissense DiploidDiploid 0.150.15 7171
P-0003749-T01-IM5P-0003749-T01-IM5 Head and Neck Mucosal MelanomaHead and Neck Mucosal Melanoma S139NS139N MissenseMissense DiploidDiploid 0.220.22 55
P-0003749-T01-IM5P-0003749-T01-IM5 Cutaneous MelanomaCutaneous Melanoma P975SP975S MissenseMissense DiploidDiploid 0.310.31 3838
P-0003871-T01-IM5P-0003871-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme G1305DG1305D MissenseMissense DiploidDiploid 0.420.42 417417
P-0003900-T01-IM5P-0003900-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma R624CR624C MissenseMissense DiploidDiploid 0.130.13 212212
P-0005021-T01-IM5P-0005021-T01-IM5 Melanoma of Unknown PrimaryMelanoma of Unknown Primary R624CR624C MissenseMissense DiploidDiploid 0.150.15 9595
P-0010726-T01-IM5P-0010726-T01-IM5 Cutaneous MelanomaCutaneous Melanoma T468ST468S MissenseMissense DiploidDiploid 0.170.17 103103
P-0005366-T01-IM5P-0005366-T01-IM5 Cutaneous MelanomaCutaneous Melanoma P1953SP1953S MissenseMissense DiploidDiploid 0.450.45 151151
P-0005366-T01-IM5P-0005366-T01-IM5 Cutaneous MelanomaCutaneous Melanoma S247FS247F MissenseMissense DiploidDiploid 0.490.49 151151
P-0005383-T01-IM5P-0005383-T01-IM5 Melanoma of Unknown PrimaryMelanoma of Unknown Primary S2361FS2361F MissenseMissense DiploidDiploid 1One 0.180.18 2121
P-0005779-T01-IM5P-0005779-T01-IM5 Hepatocellular CarcinomaHepatocellular Carcinoma T1242ST1242S MissenseMissense DiploidDiploid 0.470.47 55
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0005842-T01-IM5P-0005842-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma V1429MV1429M MissenseMissense DiploidDiploid 0.390.39 4141
P-0006273-T01-IM5P-0006273-T01-IM5 Large Cell Neuroendocrine Carc...Large Cell Neuroendocrine Carc... L33FL33F MissenseMissense DiploidDiploid 0.290.29 88
P-0006281-T01-IM5P-0006281-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma D153VD153V MissenseMissense DiploidDiploid 22 0.310.31 2525
P-0006973-T01-IM5P-0006973-T01-IM5 Cutaneous MelanomaCutaneous Melanoma S566FS566F MissenseMissense DiploidDiploid 0.470.47 1212
P-0008353-T01-IM5P-0008353-T01-IM5 Head and Neck Squamous Cell Ca...Head and Neck Squamous Cell Ca... R1341PR1341P MissenseMissense DiploidDiploid 33 0.160.16 2525
P-0008445-T01-IM5P-0008445-T01-IM5 Cutaneous MelanomaCutaneous Melanoma P2383LP2383L MissenseMissense DiploidDiploid 0.120.12 77
P-0008528-T01-IM5P-0008528-T01-IM5 Oropharynx CholangiocarcinomaOropharynx Cholangiocarcinoma S2372WS2372W MissenseMissense DiploidDiploid 1One 0.180.18 99
P-0008684-T01-IM5P-0008684-T01-IM5 Intrahepatic CholangiocarcinomaIntrahepatic Cholangiocarcinoma D2282HD2282H MissenseMissense DiploidDiploid 0.060.06 1818
P-0008938-T01-IM5P-0008938-T01-IM5 Follicular LymphomaFollicular Lymphoma Y1433NY1433N MissenseMissense DiploidDiploid 1One 0.200.20 77
P-0008999-T01-IM5P-0008999-T01-IM5 Cutaneous MelanomaCutaneous Melanoma P704LP704L MissenseMissense DiploidDiploid 0.240.24 1212
P-0008784-T02-IM5P-0008784-T02-IM5 Uveal MelanomaUveal Melanoma L2198QL2198Q MissenseMissense DiploidDiploid 0.050.05 99
P-0009324-T02-IM5P-0009324-T02-IM5 Melanoma of Unknown PrimaryMelanoma of Unknown Primary S554FS554F MissenseMissense DiploidDiploid 0.480.48 2323
P-0010340-T01-IM5P-0010340-T01-IM5 Melanoma of Unknown PrimaryMelanoma of Unknown Primary P2352LP2352L MissenseMissense DiploidDiploid 0.320.32 5454
P-0010744-T01-IM5P-0010744-T01-IM5 Anaplastic OligodendrogliomaAnaplastic Oligodendroglioma P2415LP2415L MissenseMissense DiploidDiploid 0.300.30 102102
P-0011439-T01-IM5P-0011439-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma G219VG219V MissenseMissense DiploidDiploid 0.380.38 2323
P-0012102-T01-IM5P-0012102-T01-IM5 Renal Clear Cell CarcinomaRenal Clear Cell Carcinoma P1489TP1489T MissenseMissense DiploidDiploid 0.110.11 44
P-0000088-T01-IM3P-0000088-T01-IM3 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma QP1257HSQP1257HS MissenseMissense DiploidDiploid 0.110.11 1212
P-0004885-T01-IM5P-0004885-T01-IM5 Gastrointestinal Neuroendocrin...Gastrointestinal Neuroendocrine... P1488LP1488L MissenseMissense DiploidDiploid 22 0.850.85 55
P-0006265-T01-IM5P-0006265-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma P1488LP1488L MissenseMissense DiploidDiploid 22 0.100.10 2828
P-0007071-T01-IM5P-0007071-T01-IM5 Gallbladder CancerGallbladder Cancer E548KE548K MissenseMissense DiploidDiploid 0.150.15 77
P-0012358-T01-IM5P-0012358-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma D1309ND1309N MissenseMissense DiploidDiploid 0.400.40 455455
P-0010423-T01-IM5P-0010423-T01-IM5 Langerhans Cell HistiocytosisLangerhans Cell Histiocytosis M2155_G2120dupM2155_G2120dup IF insIF ins DiploidDiploid 0.100.10 22
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0012245-T01-IM5P-0012245-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... V1371DV1371D MissenseMissense DiploidDiploid 0.350.35 99
P-0000043-T02-IM3P-0000043-T02-IM3 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma E1400KE1400K MissenseMissense DiploidDiploid 0.260.26 2727
P-0000355-T01-IM3P-0000355-T01-IM3 Uterine LeiomyosarcomaUterine Leiomyosarcoma D1576DD1576D MissenseMissense DiploidDiploid 0.450.45 44
P-00005000-T01-IM3P-00005000-T01-IM3 Glioblastoma MultiformeGlioblastoma Multiforme A1739VA1739V MissenseMissense DiploidDiploid 0.150.15 105105
P-0000649-T01-IM3P-0000649-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma Q610HQ610H MissenseMissense DiploidDiploid 0.130.13 88
P-0001529-T01-IM3P-0001529-T01-IM3 Cancer of Unknown PrimaryCancer of Unknown Primary L161ML161M MissenseMissense DiploidDiploid 0.060.06 44
P-0001628-T01-IM3P-0001628-T01-IM3 Cancer of Unknown PrimaryCancer of Unknown Primary W1545LW1545L MissenseMissense DiploidDiploid 1One 0.220.22 2828
P-0001741-T02-IM3P-0001741-T02-IM3 Cancer of Unknown PrimaryCancer of Unknown Primary C1199FC1199F MissenseMissense DiploidDiploid 0.140.14 1111
P-0001741-T01-IM3P-0001741-T01-IM3 Cancer of Unknown PrimaryCancer of Unknown Primary C1199FC1199F MissenseMissense DiploidDiploid 0.150.15 1111
P-0001878-T01-IM3P-0001878-T01-IM3 LeiomyosarcomaLeiomyosarcoma H2384RH2384R MissenseMissense DiploidDiploid 0.220.22 2828
P-0002075-T01-IM3P-0002075-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma E1963DE1963D MissenseMissense DiploidDiploid 0.350.35 3333
P-0002107-T01-IM3P-0002107-T01-IM3 High-Grade Glioma, NOSHigh-Grade Glioma, NOS V2002MV2002M MissenseMissense DiploidDiploid 0.150.15 77
P-0002672-T01-IM3P-0002672-T01-IM3 Gastrointestinal Stromal TumorGastrointestinal Stromal Tumor Q786PQ786P MissenseMissense DiploidDiploid 1One 0.390.39 1616
P-0002970-T01-IM3P-0002970-T01-IM3 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma Q887EQ887E MissenseMissense DiploidDiploid 0.090.09 1111
P-0003007-T01-IM3P-0003007-T01-IM3 Cancer of Unknown PrimaryCancer of Unknown Primary G822AG822A MissenseMissense DiploidDiploid 0.500.50 1818
P-0003047-T01-IM3P-0003047-T01-IM3 Merkel Cell CarcinomaMerkel Cell Carcinoma P528LP528L MissenseMissense DiploidDiploid 0.400.40 1515
P-0003120-T01-IM5P-0003120-T01-IM5 Anaplastic OligodendrogliomaAnaplastic Oligodendroglioma A924TA924T MissenseMissense DiploidDiploid 0.320.32 4646
P-0003155-T01-IM5P-0003155-T01-IM5 Peritoneal MesotheliomaPeritoneal Mesothelioma L1181RL1181R MissenseMissense DiploidDiploid 0.190.19 33
P-0003200-T01-IM5P-0003200-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma F22LF22L MissenseMissense DiploidDiploid 0.160.16 55
P-0003529-T01-IM5P-0003529-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme V1818MV1818M MissenseMissense DiploidDiploid 0.060.06 196196
P-0003529-T01-IM5P-0003529-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme P432SP432S MissenseMissense DiploidDiploid 0.060.06 196196
P-0003548-T01-IM5P-0003548-T01-IM5 Pleural Mesothelioma, Epitheli...Pleural Mesothelioma, Epitheli... Q2103KQ2103K MissenseMissense DiploidDiploid 0.250.25 66
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0003609-T01-IM5P-0003609-T01-IM5 Cutaneous MelanomaCutaneous Melanoma V1704FV1704F MissenseMissense DiploidDiploid 0.240.24 66
P-0003674-T01-IM5P-0003674-T01-IM5 Poorly Differentiated Non-Smal...Poorly Differentiated Non-Smal... E371QE371Q MissenseMissense DiploidDiploid 0.340.34 2929
P-0003785-T01-IM5P-0003785-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma D1420AD1420A MissenseMissense DiploidDiploid 0.090.09 1010
P-0003900-T01-IM5P-0003900-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme P2331LP2331L MissenseMissense DiploidDiploid 0.190.19 417417
P-0003900-T01-IM5P-0003900-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme R2195KR2195K MissenseMissense DiploidDiploid 0.200.20 417417
P-0003900-T01-IM5P-0003900-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme P1110LP1110L MissenseMissense DiploidDiploid 1One 0.170.17 417417
P-0003900-T01-IM5P-0003900-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme V824MV824M MissenseMissense DiploidDiploid 0.410.41 417417
P-0003900-T01-IM5P-0003900-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme D599ND599N MissenseMissense DiploidDiploid 0.190.19 417417
P-0003900-T01-IM5P-0003900-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme G268RG268R MissenseMissense DiploidDiploid 0.170.17 417417
P-0003891-T01-IM5P-0003891-T01-IM5 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... P2187LP2187L MissenseMissense DiploidDiploid 0.090.09 6767
P-0003966-T01-IM5P-0003966-T01-IM5 Cutaneous MelanomaCutaneous Melanoma P2155SP2155S MissenseMissense DiploidDiploid 0.400.40 77
P-0004092-T01-IM5P-0004092-T01-IM5 Merkel Cell CarcinomaMerkel Cell Carcinoma S2345FS2345F MissenseMissense DiploidDiploid 0.390.39 9393
P-0004092-T01-IM5P-0004092-T01-IM5 Merkel Cell CarcinomaMerkel Cell Carcinoma E996KE996K MissenseMissense DiploidDiploid 0.160.16 9393
P-0004092-T01-IM5P-0004092-T01-IM5 Merkel Cell CarcinomaMerkel Cell Carcinoma G591SG591S MissenseMissense DiploidDiploid 0.340.34 9393
P-0004093-T01-IM5P-0004093-T01-IM5 Squamous Cell Carcinoma ofthe...Squamous Cell Carcinoma of the... A2046VA2046V MissenseMissense DiploidDiploid 0.130.13 1010
P-0007319-T01-IM5P-0007319-T01-IM5 Basaloid Penile Squamous Cell...Basaloid Penile Squamous Cell... A2046VA2046V MissenseMissense DiploidDiploid 0.160.16 421421
P-0004121-T01-IM5P-0004121-T01-IM5 Large Cell Neuroendocrine Carc...Large Cell Neuroendocrine Carc... Q2324KQ2324K MissenseMissense DiploidDiploid 0.060.06 1010
P-0004427-T01-IM5P-0004427-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme M2391IM2391I MissenseMissense DiploidDiploid 0.440.44 33
P-0004688-T01-IM5P-0004688-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma V1429AV1429A MissenseMissense DiploidDiploid 0.100.10 413413
P-0005104-T01-IM5P-0005104-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma G2132VG2132V MissenseMissense DiploidDiploid 0.150.15 1010
P-0005127-T02-IM5P-0005127-T02-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary G57EG57E MissenseMissense DiploidDiploid 1One 0.490.49 9393
P-0005127-T01-IM5P-0005127-T01-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary G57EG57E MissenseMissense DiploidDiploid 1One 0.400.40 9797
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0005372-T01-IM5P-0005372-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma R1441QR1441Q MissenseMissense DiploidDiploid 0.150.15 3030
P-0005372-T01-IM5P-0005372-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma P173LP173L MissenseMissense DiploidDiploid 0.280.28 3030
P-0003973-T01-IM3P-0003973-T01-IM3 Small Cell Lung CancerSmall Cell Lung Cancer T586IT586I MissenseMissense DiploidDiploid 0.780.78 66
P-0006593-T01-IM5P-0006593-T01-IM5 Pancreatic AdenocarcinomaPancreatic Adenocarcinoma Q842HQ842H MissenseMissense DiploidDiploid 0.060.06 33
P-0006754-T01-IM5P-0006754-T01-IM5 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... P248SP248S MissenseMissense DiploidDiploid 0.050.05 6666
P-0006785-T01-IM5P-006785-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer P308SP308S MissenseMissense DiploidDiploid 0.260.26 1111
P-0007000-T01-IM5P-0007000-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma S1030FS1030F MissenseMissense DiploidDiploid 0.060.06 1010
P-0007269-T01-IM5P-0007269-T01-IM5 Endocervical AdenocarcinomaEndocervical Adenocarcinoma P957AP957A MissenseMissense DiploidDiploid 0.370.37 66
P-0007319-T01-IM5P-0007319-T01-IM5 Basaloid Penile Squamous Cell...Basaloid Penile Squamous Cell... S646NS646N MissenseMissense DiploidDiploid 1One 0.150.15 421421
P-0007403-T01-IM5P-0007403-T01-IM5 Basaloid Large Cell Carcinoma...Basaloid Large Cell Carcinoma... R1985LR1985L MissenseMissense DiploidDiploid 0.260.26 1010
P-0007427-T01-IM5P-0007427-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer G1418VG1418V MissenseMissense DiploidDiploid 0.190.19 1313
P-0007427-T01-IM5P-0007427-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer M481VM481V MissenseMissense DiploidDiploid 0.350.35 1313
P-0007544-T01-IM5P-0007544-T01-IM5 Cutaneous MelanomaCutaneous Melanoma P543LP543L MissenseMissense DiploidDiploid 0.110.11 5757
P-0007565-T01-IM5P-0007565-T01-IM5 Pancreatic AdenocarcinomaPancreatic Adenocarcinoma P2311LP2311L MissenseMissense DiploidDiploid 0.270.27 5151
P-0002294-T02-IM5P-0002294-T02-IM5 Anaplastic AstrocytomaAnaplastic Astrocytoma A2170TA2170T MissenseMissense DiploidDiploid 0.240.24 163163
P-0002294-T02-IM5P-0002294-T02-IM5 Anaplastic AstrocytomaAnaplastic Astrocytoma A924VA924V MissenseMissense DiploidDiploid 0.170.17 163163
P-0008012-T01-IM5P-0008012-T01-IM5 Head and Neck Squamous Cell Ca...Head and Neck Squamous Cell Ca... E1715KE1715K MissenseMissense DiploidDiploid 0.290.29 99
P-0008034-T01-IM5P-0008034-T01-IM5 Ampullary CarcinomaAmpullary Carcinoma D1253ND1253N MissenseMissense DiploidDiploid 0.130.13 3838
P-0007076-T03-IM5P-0007076-T03-IM5 Neuroendocrine Carcinoma, NOSNeuroendocrine Carcinoma, NOS P1997LP1997L MissenseMissense DiploidDiploid 0.060.06 168168
P-0007076-T03-IM5P-0007076-T03-IM5 Neuroendocrine Carcinoma, NOSNeuroendocrine Carcinoma, NOS P1951LP1951L MissenseMissense DiploidDiploid 0.190.19 168168
P-0008385-T01-IM5P-0008385-T01-IM5 Aadenoid Cystic Breast CancerAadenoid Cystic Breast Cancer R1173GR1173G MissenseMissense DiploidDiploid 0.470.47 33
P-0008557-T02-IM5P-0008557-T02-IM5 Cutaneous MelanomaCutaneous Melanoma P1991LP1991L MissenseMissense DiploidDiploid 0.210.21 5252
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0008854-T01-IM5P-0008854-T01-IM5 Spindle Cell Carcinoma of the..Spindle Cell Carcinoma of the.. E1285KE1285K MissenseMissense DiploidDiploid 0.090.09 2222
P-0009007-T01-IM5P-0009007-T01-IM5 Neuroendocrine Tumor, NOSNeuroendocrine Tumor, NOS G1374EG1374E MissenseMissense DiploidDiploid 0.060.06 1One
P-0003822-T02-IM5P-0003822-T02-IM5 Anaplastic AstrocytomaAnaplastic Astrocytoma S2322LS2322L MissenseMissense DiploidDiploid 0.380.38 55
P-0009459-T01-IM5P-0009459-T01-IM5 Mixed Germ Cell TumorMixed Germ Cell Tumor L353VL353V MissenseMissense DiploidDiploid 0.080.08 33
P-0009484-T01-IM5P-0009484-T01-IM5 Small Bowel CancerSmall Bowel Cancer G236VG236V MissenseMissense DiploidDiploid 0.070.07 9999
P-0009484-T01-IM5P-0009484-T01-IM5 Small Bowel CancerSmall Bowel Cancer H1712YH1712Y MissenseMissense DiploidDiploid 0.080.08 9999
P-0009590-T02-IM5P-0009590-T02-IM5 Lung AdenocarcinomaLung Adenocarcinoma L2171FL2171F MissenseMissense DiploidDiploid 0.080.08 88
P-0009613-T01-IM5P-0009613-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer M1625NM1625N MissenseMissense DiploidDiploid 55 0.430.43 2525
P-0009625-T01-IM5P-0009625-T01-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary P1208SP1208S MissenseMissense DiploidDiploid 1One 0.220.22 7373
P-0009643-T01-IM5P-0009643-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma H1738NH1738N MissenseMissense DiploidDiploid 0.120.12 77
P-0009699-T01-IM5P-0009699-T01-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma M1981IM1981I MissenseMissense DiploidDiploid 0.140.14 44
P-0009875-T01-IM5P-0009875-T01-IM5 Duodenal AdenocarcinomaDuodenal Adenocarcinoma Q1863RQ1863R MissenseMissense DiploidDiploid 0.240.24 5050
P-0010028-T01-IM5P-0010028-T01-IM5 Carcoma, NOSCarcoma, NOS L679FL679F MissenseMissense DiploidDiploid 0.190.19 77
P-0010057-T01-IM5P-0010057-T01-IM5 Poorly Differentiated Carcinom...Poorly Differentiated Carcinom... W1745CW1745C MissenseMissense DiploidDiploid 0.130.13 4949
P-0010145-T01-IM5P-0010145-T01-IM5 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... G2236EG2236E MissenseMissense DiploidDiploid 0.460.46 6565
P-0007930-T02-IM5P-0007930-T02-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma G1753VG1753V MissenseMissense DiploidDiploid 0.080.08 33
P-0008962-T02-IM5P-0008962-T02-IM5 TeratomaTeratoma A1093VA1093V MissenseMissense DiploidDiploid 0.530.53 66
P-0010704-T01-IM5P-0010704-T01-IM5 Oral Cavity Squamous Cell Carc...Oral Cavity Squamous Cell Carc... V2056MV2056M MissenseMissense DiploidDiploid 0.280.28 1616
P-0002265-T02-IM5P-0002265-T02-IM5 Glioblastoma MultiformeGlioblastoma Multiforme A467TA467T MissenseMissense DiploidDiploid 22 0.090.09 147147
P-0010916-T01-IM5P-0010916-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma H1413PH1413P MissenseMissense DiploidDiploid 0.340.34 4646
P-0001817-T02-IM5P-0001817-T02-IM5 Lung AdenocarcinomaLung Adenocarcinoma V1722EV1722E MissenseMissense DiploidDiploid 0.080.08 77
P-0011157-T01-IM5P-0011157-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma A924SA924S MissenseMissense DiploidDiploid 0.090.09 1414
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0011298-T01-IM5P-0011298-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma R1866LR1866L MissenseMissense DiploidDiploid 0.140.14 99
P-0011432-T01-IM5P-0011432-T01-IM5 Head and Neck Squamous Cell Ca...Head and Neck Squamous Cell Ca... R1926WR1926W MissenseMissense DiploidDiploid 0.340.34 5555
P-0011518-T01-IM5P-0011518-T01-IM5 SeminomaSeminoma F1632VF1632V MissenseMissense DiploidDiploid 0.400.40 44
P-0012104-T01-IM5P-0012104-T01-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma A1870PA1870P MissenseMissense DiploidDiploid 0.090.09 1One
P-0012199-T01-IM5P-0012199-T01-IM5 Invasive Breast CarcinomaInvasive Breast Carcinoma C398YC398Y MissenseMissense DiploidDiploid 0.110.11 33
P-0012194-T01-IM5P-0012194-T01-IM5 Cutaneous MelanomaCutaneous Melanoma L2254FL2254F MissenseMissense DiploidDiploid 0.130.13 3535
P-0012230-T01-IM5P-0012230-T01-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma E219KE219K MissenseMissense DiploidDiploid 0.090.09 3535
P-0012358-T01-IM5P-0012358-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma K1269NK1269N MissenseMissense DiploidDiploid 0.440.44 455455
P-0012400-T01-Im5P-0012400-T01-Im5 Lung Cell Neuroendocrine Carc...Lung Cell Neuroendocrine Carc... R218TR218T MissenseMissense DiploidDiploid 0.070.07 3232
P-0012400-T01-Im5P-0012400-T01-Im5 Lung Cell Neuroendocrine Carc...Lung Cell Neuroendocrine Carc... G214VG214V MissenseMissense DiploidDiploid 0.070.07 3232
P-0012397-T01-IM5P-0012397-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma S121IS121I MissenseMissense DiploidDiploid 0.070.07 223223
P-0008916-T01-IM5P-0008916-T01-IM5 Marginal Zone LymphomaMarginal Zone Lymphoma G1411RG1411R MissenseMissense DiploidDiploid 44 0.080.08 33
P-0010969-T01-IM5P-0010969-T01-IM5 Follicular LymphomaFollicular Lymphoma N135IN135I MissenseMissense DiploidDiploid 0.170.17 77
P-0010969-T01-IM5P-0010969-T01-IM5 Follicular LymphomaFollicular Lymphoma T1332PT1332P MissenseMissense DiploidDiploid 0.170.17 77
P-0011007-T01-IM5P-0011007-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... P1488TP1488T MissenseMissense DiploidDiploid 22 0.180.18 99
P-0011564-T01-IM5P-0011564-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... D1480HD1480H MissenseMissense DiploidDiploid 0.200.20 1010
P-0012069-T01-IM5P-0012069-T01-IM5 Follicular LymphomaFollicular Lymphoma I1483SI1483S MissenseMissense DiploidDiploid 55 0.250.25 1010
Figure PCTKR2022000311-appb-img-000003
Figure PCTKR2022000311-appb-img-000003
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0000224-T01-IM3P-0000224-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.250.25 33
P-0000288-T01-IM3P-0000288-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.230.23 88
P-0000965-T01-IM3P-0000965-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.620.62 33
P-0001990-T01-IM3P-0001990-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.470.47 55
P-0003142-T01-IM5P-0003142-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.130.13 44
P-0003375-T01-IM5P-0003375-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.230.23 44
P-0003787-T01-IM5P-0003787-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... Y537SY537S MissenseMissense DiploidDiploid 33 0.060.06 55
P-0004611-T01-IM5P-0004611-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.190.19 44
P-0004702-T02-IM5P-0004702-T02-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... Y537SY537S MissenseMissense DiploidDiploid 33 0.040.04 22
P-0005219-T01-IM5P-0005219-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense AmpAmp 33 0.410.41 55
P-0005268-T02-IM5P-0005268-T02-IM5 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS Y537SY537S MissenseMissense DiploidDiploid 33 0.260.26 22
P-0006609-T01-IM5P-006609-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.310.31 22
P-0006854-T01-IM5P-0006854-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.400.40 33
P-0006866-T01-IM5P-006866-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.260.26 55
P-0008574-T01-IM5P-0008574-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... Y537SY537S MissenseMissense DiploidDiploid 33 0.410.41 44
P-0008760-T01-IM5P-0008760-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.340.34 66
P-0010043-T01-IM5P-0010043-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.220.22 44
P-0010933-T01-IM5P-0010933-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.230.23 88
P-0000066-T02-IM5P-0000066-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537CY537C MissenseMissense DiploidDiploid 33 0.050.05 44
P-0001508-T01-IM3P-0001508-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537CY537C MissenseMissense DiploidDiploid 33 0.270.27 44
P-0003958-T01-IM3P-0003958-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537CY537C MissenseMissense DiploidDiploid 33 0.470.47 66
P-0003958-T02-IM5P-0003958-T02-IM5 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS Y537CY537C MissenseMissense DiploidDiploid 33 0.390.39 33
P-0004104-T01-IM5P-0004104-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537CY537C MissenseMissense DiploidDiploid 33 0.210.21 88
P-0006162-T01-IM5P-0006162-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537CY537C MissenseMissense DiploidDiploid 33 0.390.39 88
P-0007559-T01-IM5P-0007559-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... Y537CY537C MissenseMissense DiploidDiploid 33 0.170.17 99
P-0008334-T01-IM5P-0008334-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537CY537C MissenseMissense AmpAmp 33 0.450.45 66
P-0009821-T01-IM5P-0009821-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537CY537C MissenseMissense DiploidDiploid 33 0.400.40 88
P-0011415-T01-IM5P-0011415-T01-IM5 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS Y537CY537C MissenseMissense DiploidDiploid 33 0.830.83 22
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0001061-T01-IM3P-0001061-T01-IM3 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS Y537NY537N MissenseMissense DiploidDiploid 33 0.250.25 55
P-0001935-T01-IM3P-0001935-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537NY537N MissenseMissense DiploidDiploid 33 0.170.17 66
P-0003393-T01-IM5P-0003393-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537NY537N MissenseMissense DiploidDiploid 33 0.140.14 55
P-0003950-T02-IM5P-0003950-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537NY537N MissenseMissense DiploidDiploid 33 0.220.22 99
P-0005153-T01-IM5P-0005153-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537NY537N MissenseMissense DiploidDiploid 33 0.060.06 66
P-0005508-T01-IM5P-0005508-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537NY537N MissenseMissense DiploidDiploid 33 0.260.26 44
P-0007671-T01-IM5P-0007671-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537NY537N MissenseMissense DiploidDiploid 33 0.160.16 66
P-0008760-T01-IM5P-0008760-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537NY537N MissenseMissense DiploidDiploid 33 0.030.03 66
P-0009988-T01-IM5P-0009988-T01-IM5 Breast Mixed Ductal and Lobula...Breast Mixed Ductal and Lobula... Y537NY537N MissenseMissense DiploidDiploid 33 0.300.30 66
P-0000066-T01-IM3P-0000066-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.240.24 44
P-0000152-T02-IM3P-0000152-T02-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.350.35 66
P-0000422-T02-IM3P-0000422-T02-IM3 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... D538GD538G MissenseMissense DiploidDiploid 22 0.330.33 77
P-0000435-T01-IM3P-0000435-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.380.38 33
P-0000468-T01-IM3P-0000468-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.210.21 55
P-0000471-T01-IM3P-0000471-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.220.22 1One
P-0000612-T01-IM3P-0000612-T01-IM3 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... D538GD538G MissenseMissense DiploidDiploid 22 0.380.38 44
P-0000861-T01-IM3P-0000861-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.050.05 33
P-0001184-T02-IM5P-0001184-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.440.44 44
P-0001566-T01-IM3P-0001566-T01-IM3 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... D538GD538G MissenseMissense DiploidDiploid 22 0.060.06 1One
P-0001632-T01-IM3P-0001632-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.350.35 33
P-0001979-T01-IM3P-0001979-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.210.21 1One
P-0002232-T01-IM3P-0002232-T01-IM3 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... D538GD538G MissenseMissense DiploidDiploid 22 0.470.47 66
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0002387-T01-IM3P-0002387-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.590.59 33
P-0002667-T01-IM3P-0002667-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.360.36 77
P-0002975-T02-IM5P-0002975-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.430.43 44
P-0003224-T01-IM5P-0003224-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.200.20 1515
P-0003581-T01-IM5P-0003581-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.230.23 44
P-0003634-T01-IM5P-0003634-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.410.41 22
P-0003877-T01-IM5P-0003877-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... D538GD538G MissenseMissense DiploidDiploid 22 0.370.37 33
P-0003950-T01-IM5P-0003950-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.210.21 66
P-0003958-T01-IM3P-0003958-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.080.08 66
P-0004183-T02-IM5P-0004183-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.320.32 33
P-0004183-T03-IM5P-0004183-T03-IM5 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS D538GD538G MissenseMissense DiploidDiploid 22 0.280.28 33
P-0004289-T01-IM5P-0004289-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.230.23 55
P-0004314-T01-IM5P-0004314-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.180.18 77
P-0004987-T01-IM5P-0004987-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... D538GD538G MissenseMissense DiploidDiploid 22 0.190.19 4444
P-0005042-T01-IM5P-0005042-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.580.58 33
P-0005145-T01-IM5P-0005145-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.110.11 77
P-0005360-T01-IM5P-0005360-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.320.32 88
P-0005416-T01-IM5P-0005416-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.210.21 44
P-0005495-T01-IM5P-0005495-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.500.50 44
P-0005785-T01-IM5P-0005785-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.230.23 44
P-0006051-T01-IM5P-0006051-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... D538GD538G MissenseMissense DiploidDiploid 22 0.260.26 33
P-0006650-T01-IM5P-0006650-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538GD538G MissenseMissense DiploidDiploid 22 0.150.15 66
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0002387-T01-IM3P-0002387-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.590.59 33
P-0002667-T01-IM3P-0002667-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.360.36 77
P-0002975-T02-IM5P-0002975-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.430.43 44
P-0003224-T01-IM5P-0003224-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.200.20 1515
P-0003581-T01-IM5P-0003581-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.230.23 44
P-0003634-T01-IM5P-0003634-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.410.41 22
P-0003877-T01-IM5P-0003877-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... D538G D538G MissenseMissense DiploidDiploid 22 0.370.37 33
P-0003950-T01-IM5P-0003950-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.210.21 66
P-0003958-T01-IM3P-0003958-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.080.08 66
P-0004183-T02-IM5P-0004183-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.320.32 33
P-0004183-T03-IM5P-0004183-T03-IM5 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS D538G D538G MissenseMissense DiploidDiploid 22 0.280.28 33
P-0004289-T01-IM5P-0004289-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.230.23 55
P-0004314-T01-IM5P-0004314-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.180.18 77
P-0004987-T01-IM5P-0004987-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... D538G D538G MissenseMissense DiploidDiploid 22 0.190.19 4444
P-0005042-T01-IM5P-0005042-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.580.58 33
P-0005145-T01-IM5P-0005145-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.110.11 77
P-0005360-T01-IM5P-0005360-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.320.32 88
P-0005416-T01-IM5P-0005416-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.210.21 44
P-0005495-T01-IM5P-0005495-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.500.50 44
P-0005785-T01-IM5P-0005785-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.230.23 44
P-0006051-T01-IM5P-0006051-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... D538G D538G MissenseMissense DiploidDiploid 22 0.260.26 33
P-0006650-T01-IM5P-0006650-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.150.15 66
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0007087-T01-IM5P-0007087-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.100.10 1919
P-0007282-T01-IM5P-0007282-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... D538G D538G MissenseMissense DiploidDiploid 22 0.640.64 99
P-0007564-T01-IM5P-0007564-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.460.46 44
P-0008082-T01-IM5P-0008082-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.150.15 1717
P-0009333-T01-IM5P-0009333-T01-IM5 Invasive Breast CarcinomaInvasive Breast Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.480.48 66
P-0009641-T01-IM5P-0009641-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.240.24 88
P-0010234-T01-IM5P-0010234-T01-IM5 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS D538G D538G MissenseMissense DiploidDiploid 22 0.770.77 44
P-0010684-T01-IM5P-0010684-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.280.28 44
P-0000955-T01-IM3P-0000955-T01-IM3 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... E380QE380Q MissenseMissense DiploidDiploid 1One 0.650.65 55
P-0002562-T01-IM3P-0002562-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E380QE380Q MissenseMissense DiploidDiploid 1One 0.680.68 1212
P-0002617-T02-IM5P-0002617-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E380QE380Q MissenseMissense DiploidDiploid 1One 0.210.21 33
P-0003656-T02-IM5P-0003656-T02-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... E380QE380Q MissenseMissense DiploidDiploid 1One 0.360.36 88
P-0003882-T01-IM5P-0003882-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E380QE380Q MissenseMissense DiploidDiploid 1One 0.060.06 88
P-0004264-T01-IM5P-0004264-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E380QE380Q MissenseMissense DiploidDiploid 1One 0.150.15 1717
P-0004388-T02-IM5P-0004388-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E380QE380Q MissenseMissense DiploidDiploid 1One 0.220.22 2727
P-0004450-T01-IM5P-0004450-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E380QE380Q MissenseMissense DiploidDiploid 1One 0.630.63 2020
P-0004974-T01-IM5P-0004974-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... E380QE380Q MissenseMissense DiploidDiploid 1One 0.120.12 55
P-0006161-T03-IM5P-0006161-T03-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E380QE380Q MissenseMissense DiploidDiploid 1One 0.450.45 66
P-0006162-T01-IM5P-0006162-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E380QE380Q MissenseMissense DiploidDiploid 1One 0.340.34 88
P-0006676-T01-IM5P-0006676-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E380QE380Q MissenseMissense DiploidDiploid 1One 0.420.42 66
P-0010925-T01-IM5P-0010925-T01-IM5 Invasive Breast CarcinomaInvasive Breast Carcinoma E380QE380Q MissenseMissense DiploidDiploid 1One 0.230.23 22
P-0000607-T01-IM3P-0000607-T01-IM3 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... L536QL536Q MissenseMissense DiploidDiploid 0.190.19 1111
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0003265-T01-IM5P-0003265-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma L536RL536R MissenseMissense DiploidDiploid 0.600.60 44
P-0010069-T01-IM5P-0010069-T01-IM5 Breast Mixed Ductal and Lobula...Breast Mixed Ductal and Lobula... L536RL536R MissenseMissense DiploidDiploid 0.250.25 55
P-0006169-T01-IM5P-0006169-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.120.12 55
P-0009878-T01-IM5P-0009878-T01-IM5 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS Y537SY537S MissenseMissense DiploidDiploid 33 0.250.25 55
P-0001258-T01-IM3P-0001258-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S463PS463P MissenseMissense AmpAmp 1One 0.490.49 44
P-0008104-T01-IM5P-0008104-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S463PS463P MissenseMissense DiploidDiploid 1One 0.110.11 1One
P-0001797-T01-IM3P-0001797-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma V422delV422del IF delIF del DiploidDiploid 1One 0.260.26 44
P-0005153-T01-IM5P-0005153-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma V422delV422del IF delIF del DiploidDiploid 1One 0.220.22 66
P-0000015-T01-IM3P-0000015-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma L536HL536H MissenseMissense DiploidDiploid 0.370.37 77
P-0000066-T01-IM3P-0000066-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma L536HL536H MissenseMissense DiploidDiploid 0.330.33 44
P-0004896-T01-IM5P-0004896-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma L536HL536H MissenseMissense DiploidDiploid 0.510.51 22
P-0008910-T02-IM5P-0008910-T02-IM5 Invasive Breast CarcinomaInvasive Breast Carcinoma L536HL536H MissenseMissense DiploidDiploid 0.330.33 33
P-0005972-T01-IM5P-0005972-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma L539PL539P MissenseMissense DiploidDiploid 0.120.12 55
P-0006074-T01-IM5P-0006074-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma L539PL539P MissenseMissense DiploidDiploid 0.260.26 77
P-0001751-T01-IM3P-0001751-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y537DY537D MissenseMissense DiploidDiploid 33 0.390.39 22
P-0011042-T01-IM5P-0011042-T01-IM5 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS L536HL536H MissenseMissense DiploidDiploid 0.460.46 66
P-0001073-T01-IM3P-0001073-T01-IM3 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.430.43 1010
P-0008864-T01-IM5P-0008864-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.170.17 99
P-0010271-T01-IM5P-0010271-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma Y537SY537S MissenseMissense DiploidDiploid 33 0.100.10 66
P-0007597-T01-IM5P-0007597-T01-IM5 Sweat Gland Carcinoma/Apocrine...Sweat Gland Carcinoma/Apocrine... Y537C Y537C MissenseMissense DiploidDiploid 33 0.740.74 44
P-0004040-T02-IM5P-0004040-T02-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma D538G D538G MissenseMissense DiploidDiploid 22 0.110.11 66
P-0006531-T01-IM5P-0006531-T01-IM5 Endometrioid Ovarian CancerEndometrioid Ovarian Cancer D538G D538G MissenseMissense DiploidDiploid 22 0.230.23 66
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0011552-T01-IM5P-0011552-T01-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary D538F D538F MissenseMissense DiploidDiploid 22 0.120.12 66
P-0011448-T01-IM5P-0011448-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma S463PS463P MissenseMissense DiploidDiploid 1One 0.230.23 1212
P-0011570-T01-IM5P-0011570-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma L536HL536H MissenseMissense DiploidDiploid 0.180.18 112112
P-0001629-T01-IM3P-0001629-T01-IM3 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma L536PL536P MissenseMissense DiploidDiploid 0.270.27 55
P-0003701-T01-IM5P-0003701-T01-IM5 Intrahepatic holangiocarcinomaIntrahepatic holangiocarcinoma TACR1-ESR1 fusionTACR1-ESR1 fusion FusionFusion DiploidDiploid 22
P-0007516-T01-IM5P-0007516-T01-IM5 Uterine AdenosarcomaUterine Adenosarcoma ESR1-NCOA3 fusionESR1-NCOA3 fusion FusionFusion DiploidDiploid 22
P-0002497-T01-IM3P-0002497-T01-IM3 High-Grade Serous Ovarian CancerHigh-Grade Serous Ovarian Cancer ESR1-C6orf97 fusionESR1-C6orf97 fusion FusionFusion DiploidDiploid 1010
P-0010499-T01-IM5P-0010499-T01-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary R211IR211I MissenseMissense DiploidDiploid 1One 0.140.14 156156
P-0002049-T01-IM3P-0002049-T01-IM3 Mucinous Adenocarcinoma of the...Mucinous Adenocarcinoma of the... R548CR548C MissenseMissense DiploidDiploid 1One 0.250.25 4949
P-0006612-T01-IM5P-0006612-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma S341LS341L MissenseMissense DiploidDiploid 1One 0.200.20 357357
P-0009419-T01-IM5P-0009419-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma T311M T311M MissenseMissense DiploidDiploid 22 0.070.07 1212
P-0010665-T01-IM5P-0010665-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma T311L T311L MissenseMissense DiploidDiploid 22 0.090.09 99
P-0004263-T01-IM5P-0004263-T01-IM5 Spindle Cell Carcinoma of the...Spindle Cell Carcinoma of the... V533M V533M MissenseMissense DiploidDiploid 33 0.560.56 2121
P-0001279-T01-IM3P-0001279-T01-IM3 Anaplastic OligoastrocytomaAnaplastic Oligoastrocytoma V392I V392I MissenseMissense DiploidDiploid 22 0.300.30 77
P-0012358-T01-IM5P-0012358-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma D218ND218N MissenseMissense DiploidDiploid 1One 0.260.26 455455
P-0005326-T01-IM5P-0005326-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma I326Yfs*17I326Yfs*17 FS delFS del DiploidDiploid 0.230.23 8282
P-0000237-T01-IM3P-0000237-T01-IM3 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... Q159LQ159L MissenseMissense DiploidDiploid 0.140.14 3434
P-0000396-T01-IM3P-0000396-T01-IM3 Oropharynx Squamous Cell Carci...Oropharynx Squamous Cell Carci... R37LR37L MissenseMissense DiploidDiploid 0.230.23 99
P-0009752-T01-IM5P-0009752-T01-IM5 Cutaneous MelanomaCutaneous Melanoma R243CR243C MissenseMissense DiploidDiploid 1One 0.090.09 246246
P-0002836-T01-IM3P-0002836-T01-IM3 Glioblastoma MultiformeGlioblastoma Multiforme R394HR394H MissenseMissense DiploidDiploid 0.440.44 55
P-0005824-T01-IM5P-0005824-T01-IM5 Colon AdenocacinomaColon Adenocacinoma R477QR477Q MissenseMissense DiploidDiploid 0.070.07 347347
P-0006877-T01-IM5P-0006877-T01-IM5 Esophageal AdenocarcinomaEsophageal Adenocarcinoma R28HR28H MissenseMissense DiploidDiploid 0.090.09 1111
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0001151-T01-IM3P-0001151-T01-IM3 Colon AdecocarcinomaColon Adecocarcinoma R243HR243H MissenseMissense DiploidDiploid 1One 0.080.08 66
P-0006612-T01-IM5P-0006612-T01-IM5 Colon AdecocarcinomaColon Adecocarcinoma R243HR243H MissenseMissense DiploidDiploid 1One 0.210.21 357357
P-0001215-T01-IM3P-0001215-T01-IM3 Mucinous Adenocarcinoma of the...Mucinous Adenocarcinoma of the... A361VA361V MissenseMissense DiploidDiploid 0.140.14 249249
P-0012026-T01-IM5P-0012026-T01-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma A361VA361V MissenseMissense DiploidDiploid 0.170.17 33
P-0005606-T01-IM5P-0005606-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma E56KE56K MissenseMissense DiploidDiploid 0.380.38 3737
P-0005021-T01-IM5P-0005021-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma E330KE330K MissenseMissense DiploidDiploid 0.350.35 212212
P-0002421-T01-IM3P-0002421-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma L370FL370F MissenseMissense DiploidDiploid 0.100.10 2222
P-0009730-T01-IM5P-0009730-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer H488YH488Y MissenseMissense DiploidDiploid 1One 0.370.37 2020
P-0005824-T01-IM5P-0005824-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma R256*R256* NonsenseNonsense DiploidDiploid 0.110.11 347347
P-0001685-T01-IM3P-0001685-T01-IM3 Rectal AdenocarcinomaRectal Adenocarcinoma N519SN519S MissenseMissense DiploidDiploid 1One 0.100.10 9898
P-0011027-T01-IM5P-0011027-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma T585MT585M MissenseMissense DiploidDiploid 1One 0.110.11 66
P-0001774-T01-IM3P-0001774-T01-IM3 Prostate AdenocarcinomaProstate Adenocarcinoma T228AT228A MissenseMissense DiploidDiploid 0.110.11 4545
P-0004243-T01-IM5P-0004243-T01-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma Q506HQ506H MissenseMissense DiploidDiploid 0.260.26 55
P-0008403-T01-IM5P-0008403-T01-IM5 Cutaneous MelanomaCutaneous Melanoma R259QR259Q MissenseMissense DiploidDiploid 1One 0.380.38 2222
P-0005197-T01-IM5P-0005197-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma M109TM109T MissenseMissense DiploidDiploid 0.090.09 6060
P-0000825-T01-IM3P-0000825-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma L100Tfs*57L100Tfs*57 FS insFS ins DiploidDiploid 0.130.13 1515
P-0004362-T01-IM5P-0004362-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma P99Hfs*10P99Hfs*10 FS delFS del DiploidDiploid 0.100.10 7070
P-0008651-T01-IM5P-0008651-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma A350EA350E MissenseMissense DiploidDiploid 0.240.24 77
P-0006960-T01-IM5P-0006960-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma R269HR269H MissenseMissense DiploidDiploid 0.340.34 351351
P-0011239-T02-IM5P-0011239-T02-IM5 Colon AdenocarcinomaColon Adenocarcinoma S576LS576L MissenseMissense DiploidDiploid 0.270.27 8484
P-0010898-T01-IM5P-0010898-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma A87TA87T MissenseMissense DiploidDiploid 0.170.17 1414
P-0001494-T01-IM3P-0001494-T01-IM3 Mucinous Adenocarcinoma of the...Mucinous Adenocarcinoma of the... G96Vfs*13G96Vfs*13 FS delFS del DiploidDiploid 0.220.22 5757
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0003555-T01-IM5P-0003555-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma G96Vfs*13G96Vfs*13 FS delFS del DiploidDiploid 0.110.11 7171
P-0003078-T01-IM5P-0003078-T01-IM5 Esophageal AdenocarcinomaEsophageal Adenocarcinoma S194RS194R MissenseMissense DiploidDiploid 0.200.20 88
P-0000873-T01-IM3P-0000873-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma D564YD564Y MissenseMissense DiploidDiploid 0.260.26 1010
P-0004541-T01-IM5P-0004541-T01-IM5 Signet Ring Cell Carcinoma of...Signet Ring Cell Carcinoma of... A307PA307P MissenseMissense DiploidDiploid 1One 0.140.14 44
P-0001685-T01-IM3P-0001685-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma L410SL410S MissenseMissense DiploidDiploid 0.200.20 5757
P-0004687-T01-IM5P-0004687-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma Y54CY54C MissenseMissense DiploidDiploid 0.090.09 3232
P-0001295-T01-IM3P-0001295-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma K206TK206T MissenseMissense DiploidDiploid 0.240.24 1010
P-0001309-T01-IM3P-0001309-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma L26ML26M MissenseMissense DiploidDiploid 0.360.36 1414
P-000602-T01-IM3P-000602-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma G57CG57C MissenseMissense DiploidDiploid 0.120.12 2020
P-0003573-T01-IM5P-0003573-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma C237YC237Y MissenseMissense DiploidDiploid 0.200.20 44
P-0002054-T02-IM3P-0002054-T02-IM3 Lung AdenocarcinomaLung Adenocarcinoma P113LP113L MissenseMissense DiploidDiploid 0.280.28 1111
P-0006890-T01-IM5P-006890-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma P113LP113L MissenseMissense DiploidDiploid 0.110.11 55
P-0003034-T01-IM5P-0003034-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma Q314KQ314K MissenseMissense DiploidDiploid 0.390.39 1414
P-0001192-T01-IM3P-0001192-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma R158CR158C MissenseMissense DiploidDiploid 22 0.410.41 1414
P-0001808-T01-IM3P-0001808-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma R157QR157Q MissenseMissense DiploidDiploid 0.130.13 159159
P-0006909-T01-IM5P-006909-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma E203VE203V MissenseMissense DiploidDiploid 0.080.08 88
P-0006202-T01-IM5P-0006202-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma S338RS338R MissenseMissense DiploidDiploid 0.340.34 1212
P-0007185-T01-IM5P-0007185-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma D369YD369Y MissenseMissense DiploidDiploid 0.190.19 1212
P-0007342-T01-IM5P-0007342-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma E444*E444* NonsenseNonsense DiploidDiploid 0.080.08 66
P-0006763-T01-IM5P-0006763-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma A65VA65V MissenseMissense DiploidDiploid 0.220.22 66
P-0004865-T01-IM5P-0004865-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma D258YD258Y MissenseMissense DiploidDiploid 0.210.21 146146
P-0007809-T01-IM5P-0007809-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma K32QK32Q MissenseMissense DiploidDiploid 0.420.42 99
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0010513-T01-IM5P-0010513-T01-IM5 Rectal AdenocarcinomaRectal Adenocarcinoma A361EA361E MissenseMissense DiploidDiploid 0.360.36 66
P-0002016-T01-IM3P-0002016-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma A361TA361T MissenseMissense DiploidDiploid 0.230.23 2323
P-0000323-T01-IM3P-0000323-T01-IM3 Small Cell Lung CancerSmall Cell Lung Cancer R269CR269C MissenseMissense DiploidDiploid 0.050.05 1313
P-0011111-T01-IM5P-0011111-T01-IM5 Pancreatic AdenocarcinomaPancreatic Adenocarcinoma R269CR269C MissenseMissense DiploidDiploid 0.060.06 44
P-0002228-T01-IM3P-0002228-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma G344DG344D MissenseMissense DiploidDiploid 0.050.05 33
P-0002351-T01-IM3P-0002351-T01-IM3 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma P333TP333T MissenseMissense DiploidDiploid 0.120.12 77
P-0006330-T01-IM5P-0006330-T01-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary R548HR548H MissenseMissense DiploidDiploid 1One 0.060.06 22
P-0007327-T01-IM5P-0007327-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma V478LV478L MissenseMissense DiploidDiploid 0.070.07 44
P-0007398-T02-IM5P-0007398-T02-IM5 Uterine Carcinosarcoma/Uterine...Uterine Carcinosarcoma/Uterine... A207TA207T MissenseMissense DiploidDiploid 0.330.33 55
P-0007398-T01-IM5P-0007398-T01-IM5 Uterine Carcinosarcoma/Uterine...Uterine Carcinosarcoma/Uterine... A207TA207T MissenseMissense DiploidDiploid 0.320.32 66
P-0010024-T01-IM5P-0010024-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma C245*C245* NonsenseNonsense DiploidDiploid 0.120.12 44
P-0007493-T02-IM5P-0007493-T02-IM5 Lung AdenocarcinomaLung Adenocarcinoma P25TP25T MissenseMissense DiploidDiploid 0.360.36 1919
P-0012373-T01-IM5P-0012373-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma D374YD374Y MissenseMissense DiploidDiploid 0.250.25 4040
P-0000201-T01-IM3P-0000201-T01-IM3 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... N532KN532K MissenseMissense DiploidDiploid 0.610.61 1111
P-0000414-T01-IM3P-0000414-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S432LS432L MissenseMissense DiploidDiploid 0.260.26 22
P-0001483-T01-IM3P-0001483-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S432LS432L MissenseMissense DiploidDiploid 0.220.22 22
P-0010351-T01-IM5P-0010351-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer S432LS432L MissenseMissense DiploidDiploid 0.560.56 99
P-0001952-T01-IM3P-0001952-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma A546DA546D MissenseMissense DiploidDiploid 0.250.25 66
P-0001952-T02-IM3P-0001952-T02-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma A546DA546D MissenseMissense DiploidDiploid 0.410.41 88
P-0001715-T01-IM3P-0001715-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E542GE542G MissenseMissense DiploidDiploid 0.050.05 22
P-0001952-T02-IM3P-0001952-T02-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma V534EV534E MissenseMissense DiploidDiploid 0.210.21 88
P-0003014-T01-IM3P-0003014-T01-IM3 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma G442RG442R MissenseMissense DiploidDiploid 0.350.35 3838
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0003147-T01-IM5P-0003147-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma V418EV418E MissenseMissense DiploidDiploid 0.430.43 44
P-0004295-T01-IM5P-0004295-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... F461VF461V MissenseMissense DiploidDiploid 0.270.27 66
P-0004455-T01-IM5P-0004455-T01-IM5 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS Y328_S329delY328_S329del IF delIF del DiploidDiploid 0.110.11 88
P-0005120-T01-IM5P-0005120-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... L466QL466Q MissenseMissense DiploidDiploid 0.290.29 55
P-0005360-T01-IM5P-0005360-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma G442RG442R MissenseMissense DiploidDiploid 0.330.33 88
P-0006162-T01-IM5P-0006162-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S329YS329Y MissenseMissense DiploidDiploid 0.330.33 88
P-0006269-T01-IM5P-0006269-T01-IM5 Uterine Clear Cell CarcinomaUterine Clear Cell Carcinoma Y80HY80H MissenseMissense DiploidDiploid 0.100.10 7575
P-0011373-T01-IM5P-0011373-T01-IM5 Invasive Breast CarcinomaInvasive Breast Carcinoma G160DG160D MissenseMissense DiploidDiploid 0.430.43 22
P-0011398-T01-IM5P-0011398-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma M421YM421Y MissenseMissense DiploidDiploid 0.370.37 55
P-0011463-T01-IM5P-0011463-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma K252NK252N MissenseMissense DiploidDiploid 0.380.38 77
P-0001504-T02-IM5P-0001504-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma L540QL540Q MissenseMissense DiploidDiploid 0.080.08 22
P-0002429-T01-IM5P-0002429-T01-IM5 Cutaneous MelanomaCutaneous Melanoma L403RL403R MissenseMissense DiploidDiploid 0.490.49 44
P-0003107-T01-IM5P-0003107-T01-IM5 Cutaneous MelanomaCutaneous Melanoma T224IT224I MissenseMissense DiploidDiploid 1One 0.420.42 3535
P-0005021-T01-IM5P-0005021-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma E385DE385D MissenseMissense DiploidDiploid 0.180.18 212212
P-0005309-T01-IM5P-0005309-T01-IM5 Adenocarcinoma, NOSAdenocarcinoma, NOS R277SR277S MissenseMissense DiploidDiploid 0.150.15 2626
P-0006339-T01-IM5P-0006339-T01-IM5 Cutaneous MelanomaCutaneous Melanoma R151KR151K MissenseMissense DiploidDiploid 0.570.57 6565
P-0010249-T01-IM5P-0010249-T01-IM5 Cutaneous MelanomaCutaneous Melanoma G590SG590S MissenseMissense DiploidDiploid 0.100.10 1919
P-0003107-T01-IM5P-0003107-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma *594fs**594fs* FS delFS del DiploidDiploid 0.170.17 77
P-0000113-T01-IM3P-0000113-T01-IM3 Small Cell Lung CancerSmall Cell Lung Cancer L117QL117Q MissenseMissense DiploidDiploid 0.300.30 1818
P-0000247-T01-IM3P-0000247-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma G521Rfs*18G521Rfs*18 FS insFS ins DiploidDiploid 0.180.18 44
P-0000372-T01-IM3P-0000372-T01-IM3 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... M437IM437I MissenseMissense DiploidDiploid 0.090.09 2828
P-0000500-T01-IM3P-0000500-T01-IM3 Glioblastoma MultiformeGlioblastoma Multiforme G57SG57S MissenseMissense DiploidDiploid 0.090.09 105105
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0001911-T01-IM3P-0001911-T01-IM3 High-Grade Serous Ovarian CancerHigh-Grade Serous Ovarian Cancer G284EG284E MissenseMissense DiploidDiploid 0.240.24 1111
P-0002008-T01-IM3P-0002008-T01-IM3 AngiosarcomaAngiosarcoma D564ND564N MissenseMissense DiploidDiploid 0.160.16 55
P-0002879-T01-IM3P-0002879-T01-IM3 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma N304HN304H MissenseMissense DiploidDiploid 0.100.10 1010
P-0002964-T02-IM3P-0002964-T02-IM3 Papillary Renal Cell CarcinomaPapillary Renal Cell Carcinoma H398PH398P MissenseMissense DiploidDiploid 0.090.09 4747
P-0003209-T01-IM5P-0003209-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma E275Gfs*5E275Gfs*5 FS insFS ins DiploidDiploid 0.350.35 8080
P-0003270-T02-IM5P-0003270-T02-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma R183GR183G MissenseMissense DiploidDiploid 0.090.09 1010
P-0004152-T01-IM5P-0004152-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma K48NK48N MissenseMissense DiploidDiploid 0.340.34 1111
P-0004152-T01-IM5P-0004152-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma P324SP324S MissenseMissense DiploidDiploid 0.340.34 1111
P-0004330-T01-IM5P-0004330-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma A593VA593V MissenseMissense DiploidDiploid 1One 0.130.13 6565
P-0004650-T01-IM5P-0004650-T01-IM5 Melanoma of Unknown PrimaryMelanoma of Unknown Primary A288TA288T MissenseMissense DiploidDiploid 0.090.09 5959
P-0004869-T01-IM5P-0004869-T01-IM5 Large Cell Neuroendocrine Carc...Large Cell Neuroendocrine Carc... T4AT4A MissenseMissense DiploidDiploid 0.090.09 1212
P-0005353-T01-IM5P-0005353-T01-IM5 Poorly Differentiated Non-Smal...Poorly Differentiated Non-Smal... E247*E247* MissenseMissense DiploidDiploid 0.160.16 2525
P-0005558-T01-IM5P-0005558-T01-IM5 Pancreatic AdenocarcinomaPancreatic Adenocarcinoma R211SR211S MissenseMissense DiploidDiploid 1One 0.070.07 99
P-0005603-T01-IM5P-0005603-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme R260KR260K MissenseMissense DiploidDiploid 0.400.40 55
P-0006169-T01-IM5P-0006169-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D538_L539insHDD538_L539insHD IF insIF ins DiploidDiploid 0.120.12 55
P-0006634-T01-IM5P-0006634-T01-IM5 Ampullary CarcinomaAmpullary Carcinoma K401*K401* NonsenseNonsense DiploidDiploid 0.130.13 1111
P-0006630-T01-IM5P-006630-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer L15VL15V MissenseMissense DiploidDiploid 0.250.25 1010
P-0007319-T01-IM5P-0007319-T01-IM5 Basaloid Penile Squmous Cell...Basaloid Penile Squmous Cell... K449RK449R MissenseMissense DiploidDiploid 0.140.14 421421
P-0009258-T01-IM5P-0009258-T01-IM5 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... P325SP325S MissenseMissense DiploidDiploid 0.210.21 4646
P-0009752-T01-IM5P-0009752-T01-IM5 Cutaneous MelanomaCutaneous Melanoma R363KR363K MissenseMissense DiploidDiploid 0.090.09 246246
P-0009752-T01-IM5P-0009752-T01-IM5 Cutaneous MelanomaCutaneous Melanoma E470KE470K MissenseMissense DiploidDiploid 0.180.18 246246
P-0010728-T02-IM5P-0010728-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P147QP147Q MissenseMissense DiploidDiploid 0.150.15 55
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0010728-T01-IM5P-0010728-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P147QP147Q MissenseMissense DiploidDiploid 0.210.21 44
P-0010904-T01-IM5P-0010904-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma V478IV478I MissenseMissense DiploidDiploid 0.290.29 4242
P-0011235-T01-IM5P-0011235-T01-IM5 Rectal AdenocarcinomaRectal Adenocarcinoma Q500dupQ500dup IF insIF ins DiploidDiploid 0.140.14 2323
P-0011467-T01-IM5P-0011467-T01-IM5 Cutaneous MelanomaCutaneous Melanoma R183CR183C MissenseMissense DiploidDiploid 0.240.24 6868
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
MO 1230MO 1230 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma A441Hfs*44A441Hfs*44 FS insFS ins 0.140.14 3131
MO 1302MO 1302 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins 0.140.14 110110
MO 1516MO 1516 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma X350_spliceX350_splice SpliceSplice 0.190.19 6767
TP 2004TP 2004 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS R330Efs*22R330Efs*22 FS insFS ins 1One 0.130.13 3535
MO 1068MO 1068 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... N331IN331I MissenseMissense 0.130.13 546546
MO 1271MO 1271 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S175WS175W MissenseMissense 0.160.16 697697
MO 1444MO 1444 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y229HY229H MissenseMissense 0.350.35 14891489
TP 2021TP 2021 Urethral Urothelial CarcinomaUrethral Urothelial Carcinoma C266SC266S MissenseMissense 0.440.44 9191
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0000288-T01-IM3P-0000288-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma M293KM293K MissenseMissense DiploidDiploid 0.340.34 88
P-0001874-T01-IM3P-0001874-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma M293KM293K MissenseMissense DiploidDiploid 0.260.26 77
P-0005943-T01-IM5P-0005943-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... M293KM293K MissenseMissense DiploidDiploid 0.550.55 1818
P-0007231-T01-IM5P-0007231-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma M293KM293K MissenseMissense DiploidDiploid 0.330.33 55
P-0011305-T01-IM5P-0011305-T01-IM5 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS M293KM293K MissenseMissense DiploidDiploid 0.190.19 1818
P-0010453-T01-IM5P-0010453-T01-IM5 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS R364SR364S MissenseMissense DiploidDiploid 0.260.26 77
P-0002543-T01-IM3P-0002543-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R364GR364G MissenseMissense DiploidDiploid 0.370.37 55
P-0000138-T01-IM3P-0000138-T01-IM3 Breast Mixed Ductal and Lobula...Breast Mixed Ductal and Lobula... R364TR364T MissenseMissense DiploidDiploid 0.240.24 3333
P-0004289-T01-IM5P-0004289-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R364TR364T MissenseMissense DiploidDiploid 0.230.23 55
P-0001797-T01-IM3P-0001797-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma H434Pfs*42H434Pfs*42 FS insFS ins AmpAmp 1One 0.310.31 44
P-0004295-T01-IM5P-0004295-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... H434Pfs*42H434Pfs*42 FS insFS ins DiploidDiploid 1One 0.200.20 66
P-0003920-T01-IM5P-0003920-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma S426Yfs850S426Yfs850 FS insFS ins DiploidDiploid 1One 0.270.27 2424
P-0000160-T01-IM3P-0000160-T01-IM3 Breast Invasive Mixed Mucinous...Breast Invasive Mixed Mucinous... P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.310.31 22
P-0000435-T01-IM3P-0000435-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.370.37 33
P-0000617-T01-IM3P-0000617-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.300.30 55
P-0002387-T01-IM3P-0002387-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.270.27 33
P-0004540-T01-IM5P-0004540-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.380.38 33
P-0004999-T01-IM5P-0004999-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.060.06 44
P-0006866-T01-IM5P-006866-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.200.20 55
P-0006928-T01-IM5P-0006928-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.370.37 22
P-0007072-T01-IM5P-0007072-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.390.39 66
P-0007579-T01-IM5P-0007579-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.210.21 1One
P-0008712-T01-IM5P-0008712-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.250.25 1One
P-0008945-T01-IM5P-0008945-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.230.23 44
P-0009356-T01-IM5P-0009356-T01-IM5 Invasive Breast CarcinomaInvasive Breast Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.380.38 66
P-0010922-T01-IM5P-0010922-T01-IM5 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.420.42 1One
P-0001508-T01-IM3P-0001508-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y344Lfs*8Y344Lfs*8 FS insFS ins DiploidDiploid 0.500.50 44
P-0008386-T01-IM5P-0008386-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... A332Gts*20A332Gts*20 FS insFS ins DiploidDiploid 1One 0.460.46 33
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0000015-T01-IM3P-0000015-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.170.17 77
P-0000624-T02-IM5P-0000624-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.350.35 44
P-0000624-T01-IM3P-0000624-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.370.37 55
P-0001484-T01-IM3P-0001484-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.100.10 33
P-0001484-T02-IM5P-0001484-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.120.12 66
P-0001491-T01-IM3P-0001491-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.340.34 99
P-0001545-T01-IM3P-0001545-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.100.10 1One
P-0001777-T01-IM3P-0001777-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.170.17 22
P-0002390-T01-IM3P-0002390-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.400.40 1One
P-0002958-T01-IM3P-0002958-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.320.32 22
P-0006189-T01-IM5P-0006189-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.260.26 55
P-0006388-T01-IM5P-006388-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.250.25 22
P-0007014-T01-IM5P-0007014-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.390.39 33
P-0007700-T01-IM5P-0007700-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.280.28 33
P-0008400-T01-IM5P-0008400-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.060.06 22
P-0009688-T01-IM5P-0009688-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.250.25 22
P-0010058-T01-IM5P-0010058-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.280.28 33
P-0010216-T01-IM5P-0010216-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*17D335Gfs*17 FS insFS ins DiploidDiploid 0.200.20 1One
P-0002324-T01-IM3P-0002324-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.140.14 33
P-0002975-T02-IM5P-0002975-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.270.27 44
P-0001975-T01-IM3P-0001975-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.210.21 22
P-0003306-T01-IM5P-0003306-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.260.26 55
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0005153-T01-IM5P-0005153-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.310.31 66
P-0009460-T01-IM5P-0009460-T01-IM5 Invasive Breast CarcinomaInvasive Breast Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.160.16 44
P-0011348-T01-IM5P-0011348-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.110.11 1One
P-0011434-T01-IM5P-0011434-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.320.32 22
P-0000584-T01-IM3P-0000584-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.310.31 1111
P-0001862-T01-IM3P-0001862-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.490.49 1One
P-0003961-T01-IM3P-0003961-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.360.36 1One
P-0009594-T01-IM5P-0009594-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.240.24 22
P-0008327-T01-IM5P-0008327-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma G431Wfs*76G431Wfs*76 FS insFS ins DiploidDiploid 1One 0.190.19 77
P-0006992-T01-IM5P-0006992-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma H434Pfs*73H434Pfs*73 FS insFS ins DiploidDiploid 1One 0.370.37 22
p-0009325-T02-IM5p-0009325-T02-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... H434Pfs*73H434Pfs*73 FS insFS ins DiploidDiploid 1One 0.200.20 33
P-0004654-T01-IM5P-0004654-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Gfs*21D335Gfs*21 FS insFS ins DiploidDiploid 0.250.25 22
P-0002244-T01-IM3P-0002244-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E359Afs*44E359Afs*44 FS delFS del DiploidDiploid 0.460.46 55
P-0001889-T01-IM3P-0001889-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S407Afs*99S407Afs*99 FS delFS del DiploidDiploid 0.390.39 33
P-0010234-T01-IM5P-0010234-T01-IM5 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS S407Afs*99S407Afs*99 FS delFS del DiploidDiploid 0.340.34 44
P-0000985-T01-IM3P-0000985-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S426Ifs*81S426Ifs*81 FS insFS ins DiploidDiploid 1One 0.140.14 1One
P-0006676-T01-IM5P-0006676-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S426Ifs*81S426Ifs*81 FS insFS ins DiploidDiploid 1One 0.270.27 66
P-0002245-T01-IM3P-0002245-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins AmpAmp 22 0.410.41 33
P-0002399-T01-Im3P-0002399-T01-Im3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.210.21 1One
P-0003002-T01-IM3P-0003002-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.340.34 22
P-0006068-T01-IM5P-0006068-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.470.47 44
P-0007087-T01-IM5P-0007087-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.110.11 1919
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0010919-T01-IM5P-0010919-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.210.21 22
P-0010930-T01-IM5P-0010930-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Afs*99P408Afs*99 FS insFS ins DiploidDiploid 22 0.110.11 1One
P-0001774-T01-IM3P-0001774-T01-IM3 Prostate AdenocarcinomaProstate Adenocarcinoma S237Afs*28S237Afs*28 FS delFS del DiploidDiploid 1One 0.380.38 4545
P-0007688-T01-IM5P-0007688-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma S237Afs*28S237Afs*28 FS delFS del DiploidDiploid 1One 0.190.19 5252
P-0003555-T01-IM5P-0003555-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma V378Cfs*26V378Cfs*26 FS delFS del DiploidDiploid 0.170.17 7171
P-0001685-T01-IM3P-0001685-T01-IM3 Rectal AdenocarcinomaRectal Adenocarcinoma P135Rfs*60P135Rfs*60 FS delFS del DiploidDiploid 0.160.16 9898
P-0006752-T01-IM5P-0006752-T01-IM5 Stomach AdenocarcinomaStomach Adenocarcinoma P135Rfs*60P135Rfs*60 FS delFS del DiploidDiploid 0.070.07 4141
P-0007831-T01-IM5P-0007831-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma P135Rfs*60P135Rfs*60 FS delFS del DiploidDiploid 0.080.08 4848
P-0007836-T01-IM5P-0007836-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma P135Rfs*60P135Rfs*60 FS delFS del DiploidDiploid 0.170.17 6565
P-0004949-T02-IM5P-0004949-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S436Lfs*71S436Lfs*71 FS insFS ins DiploidDiploid 0.230.23 33
P-0012005-T01-IM5P-0012005-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Pfs*16D335Pfs*16 FS delFS del DiploidDiploid 0.140.14 22
P-0001415-T01-IM3P-0001415-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma G334Wfs*18G334Wfs*18 FS insFS ins DiploidDiploid 22 0.410.41 33
P-0003581-T01-IM5P-0003581-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma C320Lfs*32C320Lfs*32 FS insFS ins DiploidDiploid 0.240.24 44
P-0005154-T01-IM5P-0005154-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P4008Lfs*98P4008Lfs*98 FS delFS del DiploidDiploid 22 0.060.06 1515
P-0011321-T01-IM5P-0011321-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R329Gfs*17R329Gfs*17 FS delFS del DiploidDiploid 1One 0.350.35 55
P-0005359-T01-IM5P-0005359-T01-IM5 Bladder AdenocarcinomaBladder Adenocarcinoma S237Qfs*66S237Qfs*66 FS insFS ins DiploidDiploid 1One 0.330.33 4040
P-0005715-T01-IM5P-0005715-T01-IM5 Rectal AdenocarcinomaRectal Adenocarcinoma S237Qfs*66S237Qfs*66 FS insFS ins AmpAmp 1One 0.090.09 66
P-0002023-T01-IM3P-0002023-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S401Vfs*106S401Vfs*106 FS insFS ins DiploidDiploid 44 0.300.30 22
P-0006137-T01-IM5P-0006137-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S401Vfs*106S401Vfs*106 FS insFS ins DiploidDiploid 44 0.240.24 44
P-0002244-T01-IM3P-0002244-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S413Qfs*94S413Qfs*94 FS insFS ins DiploidDiploid 0.410.41 55
P-0006527-T01-IM5P-0006527-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S413Qfs*94S413Qfs*94 FS insFS ins DiploidDiploid 0.060.06 33
P-0007089-T02-IM5P-0007089-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S413Qfs*94S413Qfs*94 FS insFS ins DiploidDiploid 0.350.35 55
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0004519-T01-IM5P-0004519-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma P435Tfs*41P435Tfs*41 FS insFS ins DiploidDiploid 33 0.180.18 2222
P-0004912-T01-IM5P-0004912-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma M422Dfs*85M422Dfs*85 FS insFS ins DiploidDiploid 0.180.18 33
P-0005948-T01-IM5P-0005948-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma V47Gfs*63V47Gfs*63 FS insFS ins DiploidDiploid 0.410.41 22
P-0007539-T01-IM5P-0007539-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma *444Lfs*63*444Lfs*63 FS insFS ins DiploidDiploid 0.130.13 1One
P-0006642-T01-IM5P-0006642-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma Q73*Q73* NonsenseNonsense DiploidDiploid 0.050.05 2121
P-0006199-T01-IM5P-0006199-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma G246Afs*19G246Afs*19 FS delFS del DiploidDiploid 0.140.14 77
P-0001149-T01-IM3P-0001149-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma L396Qfs*109L396Qfs*109 FS delFS del DiploidDiploid 0.180.18 44
P-0001258-T01-IM3P-0001258-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Efs*17D335Efs*17 FS insFS ins AmpAmp 0.390.39 44
P-0003362-T01-IM5P-0003362-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma A441Rfs*66A441Rfs*66 FS insFS ins DiploidDiploid 0.150.15 2727
P-0012307-T01-IM5P-0012307-T01-IM5 Invasive Breast CarcinomaInvasive Breast Carcinoma A441Rfs*66A441Rfs*66 FS insFS ins DiploidDiploid 0.110.11 44
P-0004195-T02-IM5P-0004195-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma N331Efs*21N331Efs*21 FS insFS ins DiploidDiploid 66 0.160.16 77
P-0004195-T01-IM5P-0004195-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma N331Efs*21N331Efs*21 FS insFS ins DiploidDiploid 66 0.400.40 66
P-0004462-T01-IM5P-0004462-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma N331Efs*21N331Efs*21 FS insFS ins DiploidDiploid 66 0.360.36 55
P-0004981-T01-IM5P-0004981-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma N331Efs*21N331Efs*21 FS insFS ins DiploidDiploid 66 0.200.20 44
P-0005900-T01-IM5P-0005900-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma N331Efs*21N331Efs*21 FS insFS ins DiploidDiploid 66 0.290.29 1616
P-0007684-T01-IM5P-0007684-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma N331Efs*21N331Efs*21 FS insFS ins DiploidDiploid 66 0.290.29 1One
P-0009160-T01-IM5P-0009160-T01-IM5 Invasive Breast CarcinomaInvasive Breast Carcinoma N331Efs*21N331Efs*21 FS insFS ins DiploidDiploid 66 0.220.22 55
P-0009740-T01-IM5P-0009740-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma N331Efs*21N331Efs*21 FS insFS ins DiploidDiploid 66 0.410.41 66
P-0006645-T01-IM5P-0006645-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma H123Pfs*69H123Pfs*69 FS delFS del DiploidDiploid 0.130.13 3939
P-0010560-T01-IM5P-0010560-T01-IM5 Invasive Breast CarcinomaInvasive Breast Carcinoma H423Afs*84H423Afs*84 FS insFS ins DiploidDiploid 0.140.14 55
P-0000136-T01-IM3P-0000136-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma A394Lfs*110A394Lfs*110 FS delFS del DiploidDiploid 0.350.35 33
P-0005691-T01-IM5P-0005691-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma A394Lfs*110A394Lfs*110 FS delFS del DiploidDiploid 0.140.14 33
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0000337-T01-IM3P-0000337-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S401Ffs*106S401Ffs*106 FS insFS ins DiploidDiploid 44 0.090.09 33
P-0000337-T02-IM5P-0000337-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S401Ffs*106S401Ffs*106 FS insFS ins DiploidDiploid 44 0.100.10 55
P-0000522-T01-IM3P-0000522-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S436Pfs*39S436Pfs*39 FS delFS del DiploidDiploid 0.290.29 22
P-0000595-T01-IM3P-0000595-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S436Pfs*39S436Pfs*39 FS delFS del DiploidDiploid 0.240.24 1One
P-0000595-T02-IM5P-0000595-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S436Pfs*39S436Pfs*39 FS delFS del DiploidDiploid 0.220.22 1One
P-0001489-T01-IM3P-0001489-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Qfs*97P408Qfs*97 FS delFS del DiploidDiploid 22 0.190.19 33
P-0005423-T01-IM5P-0005423-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P408Qfs*97P408Qfs*97 FS delFS del DiploidDiploid 22 0.190.19 77
P-0002417-T02-IM5P-0002417-T02-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary R366*R366* NonsenseNonsense DiploidDiploid 0.630.63 77
P-0002417-T01-IM3P-0002417-T01-IM3 Cancer of Unknown PrimaryCancer of Unknown Primary R366*R366* NonsenseNonsense DiploidDiploid 0.460.46 44
P-0003950-T01-IM5P-0003950-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R366*R366* NonsenseNonsense DiploidDiploid 0.460.46 66
P-0003950-T02-IM5P-0003950-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R366*R366* NonsenseNonsense DiploidDiploid 0.340.34 99
P-0007362-T01-IM5P-0007362-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R366*R366* NonsenseNonsense DiploidDiploid 0.320.32 88
P-0009828-T02-IM5P-0009828-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R366*R366* NonsenseNonsense DiploidDiploid 0.380.38 44
P-0009828-T01-IM5P-0009828-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R366*R366* NonsenseNonsense DiploidDiploid 0.430.43 55
P-0002574-T01-IM5P-0002574-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S390*S390* NonsenseNonsense DiploidDiploid 0.100.10 33
P-0003481-T01-IM5P-0003481-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma T418Afs*86T418Afs*86 FS delFS del DiploidDiploid 0.380.38 33
P-0003581-T01-IM5P-0003581-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S426Afs*82S426Afs*82 FS insFS ins DiploidDiploid 1One 0.190.19 44
P-0003772-T01-IM5P-0003772-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P432Tfs*74P432Tfs*74 FS delFS del DiploidDiploid 33 0.230.23 55
P-0004289-T01-IM5P-0004289-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma G443Vfs*32G443Vfs*32 FS delFS del DiploidDiploid 22 0.260.26 55
P-0005377-T01-IM5P-0005377-T01-IM5 Breast Mixed Ductal and Lobula...Breast Mixed Ductal and Lobula... P408Qfs*97P408Qfs*97 FS delFS del DiploidDiploid 22 0.240.24 44
P-0005426-T01-IM5P-0005426-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma M438Wfs*37M438Wfs*37 FS delFS del DiploidDiploid 0.050.05 1One
P-0005602-T02-IM5P-0005602-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma T355Qfs*97T355Qfs*97 FS delFS del DiploidDiploid 0.130.13 88
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0005602-T01-IM5P-0005602-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma T355Qfs*97T355Qfs*97 FS delFS del DiploidDiploid 0.100.10 44
P-0006847-T01-IM5P-0006847-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma T355Qfs*97T355Qfs*97 FS delFS del DiploidDiploid 0.140.14 33
P-0005785-T01-IM5P-0005785-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma F430Sfs*38F430Sfs*38 FS delFS del DiploidDiploid 0.340.34 44
P-0005781-T01-IM5P-0005781-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma G431Tfs*41G431Tfs*41 FS delFS del DiploidDiploid 1One 0.390.39 44
P-0005818-T01-IM5P-0005818-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma G314Rfs*38G314Rfs*38 FS insFS ins DiploidDiploid 0.130.13 44
P-0004031-T01-IM3P-0004031-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma T355*T355* FS delFS del DiploidDiploid 0.310.31 44
P-0006556-T01-IM5P-0006556-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma X349_spliceX349_splice SpliceSplice DiploidDiploid 0.230.23 33
P-0006622-T01-IM5P-0006622-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma L416Pfs*83L416Pfs*83 FS delFS del DiploidDiploid 0.150.15 33
P-0006741-T01-IM5P-0006741-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma H405Efs*103H405Efs*103 FS insFS ins DiploidDiploid 0.290.29 55
P-0007362-T01-IM5P-0007362-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S437Rfs*38S437Rfs*38 FS delFS del DiploidDiploid 22 0.220.22 88
P-0008570-T01-IM5P-0008570-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma N319Efs*33N319Efs*33 FS insFS ins DiploidDiploid 0.200.20 22
P-0008833-T01-IM5P-0008833-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma L396Hfs*107L396Hfs*107 FS delFS del DiploidDiploid 0.280.28 99
P-0009026-T01-IM5P-0009026-T01-IM5 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS T315Kfs*37T315Kfs*37 FS insFS ins DiploidDiploid 1One 0.400.40 22
P-0009155-T01-IM5P-009155-T01-IM5 Invasive Breast CarcinomaInvasive Breast Carcinoma S390Rfs*112S390Rfs*112 FS delFS del DiploidDiploid 0.280.28 22
P-0009432-T01-IM5P-0009432-T01-IM5 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS A441Pfs*34A441Pfs*34 FS delFS del DiploidDiploid 0.270.27 22
P-0009636-T01-IM5P-0009636-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R330Mfs*24R330Mfs*24 FS insFS ins DiploidDiploid 1One 0.290.29 66
P-0009726-T01-IM5P-0009726-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P424Rfs*51P424Rfs*51 FS delFS del DiploidDiploid 0.260.26 33
P-0009876-T01-IM5P-0009876-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma H343Tfs*42H343Tfs*42 FS insFS ins DiploidDiploid 1One 0.210.21 88
P-0009878-T01-IM5P-0009878-T01-IM5 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS K387Rfs*17K387Rfs*17 FS delFS del DiploidDiploid 0.230.23 55
P-0010277-T01-IM5P-0010277-T01-IM5 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS C320Wfs*18C320Wfs*18 FS delFS del DiploidDiploid 0.090.09 22
P-0010754-T01-IM5P-0010754-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R330Mfs*20R330Mfs*20 FS delFS del DiploidDiploid 1One 0.320.32 66
P-0010942-T01-IM5P-0010942-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R69Qfs*234R69Qfs*234 FS insFS ins DiploidDiploid 0.250.25 33
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0011072-T01-IM5P-0011072-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma N331Gfs*17N331Gfs*17 FS delFS del DiploidDiploid 66 0.270.27 1One
P-0001485-T01-IM3P-0001485-T01-IM3 Cutaneous MelanomaCutaneous Melanoma K377*K377* NonsenseNonsense DiploidDiploid 0.110.11 6868
P-0003224-T01-IM5P-0003224-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma C338Lfs*14C338Lfs*14 FS insFS ins DiploidDiploid 0.180.18 1515
P-0006169-T01-IM5P-0006169-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma C338Lfs*14C338Lfs*14 FS insFS ins DiploidDiploid 0.300.30 55
P-0005220-T01-IM5P-0005220-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma X350_spliceX350_splice SpliceSplice DiploidDiploid 0.620.62 88
P-0007401-T01-IM5P-0007401-T01-IM5 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS X350_spliceX350_splice SpliceSplice DiploidDiploid 0.240.24 55
P-0011415-T01-IM5P-0011415-T01-IM5 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS X350_spliceX350_splice SpliceSplice DiploidDiploid 0.390.39 22
P-0008103-T01-IM5P-0008103-T01-IM5 Papillary Thyroid CancerPapillary Thyroid Cancer GATA3intragenicGATA3intragenic FusionFusion DiploidDiploid 33
P-0009431-T01-IM5P-0009431-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma LOC100128811-GATA3 fusionLOC100128811-GATA3 fusion FusionFusion DiploidDiploid 99
P-0001648-T01-IM3P-0001648-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R330Efs*22R330Efs*22 FS insFS ins DiploidDiploid 1One 0.220.22 33
P-0005469-T01-IM5P-0005469-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R330Efs*22R330Efs*22 FS insFS ins DiploidDiploid 1One 0.240.24 22
P-0004835-T01-IM5P-0004835-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma T417Dfs*90T417Dfs*90 FS insFS ins DiploidDiploid 0.400.40 44
P-0000490-T01-IM3P-0000490-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma M356Nfs*15M356Nfs*15 FS insFS ins DiploidDiploid 0.240.24 33
P-0001118-T01-IM3P-0001118-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma T440Sfs*68T440Sfs*68 FS insFS ins AmpAmp 1One 0.420.42 22
P-0001607-T01-IM3P-0001607-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma A332Cfs*20A332Cfs*20 FS insFS ins DiploidDiploid 1One 0.380.38 33
P-0001875-T01-IM3P-0001875-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma T322Dfs*30T322Dfs*30 FS insFS ins DiploidDiploid 0.450.45 66
P-0002473-T01-IM3P-0002473-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y344Sfs*12Y344Sfs*12 FS insFS ins DiploidDiploid 0.380.38 66
P-0002915-T01-IM3P-0002915-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma N333Kfs*19N333Kfs*19 FS insFS ins DiploidDiploid 1One 0.220.22 99
P-0002950-T01-IM3P-0002950-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma G443Pfs*34G443Pfs*34 FS insFS ins DiploidDiploid 22 0.240.24 22
P-0003133-T01-IM5P-0003133-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P419Afs*88P419Afs*88 FS insFS ins DiploidDiploid 1One 0.360.36 33
P-0003394-T01-IM5P-0003394-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... F430Lfs*77F430Lfs*77 FS insFS ins DiploidDiploid 0.130.13 33
P-0004260-T02-IM5P-0004260-T02-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma S402OPfs*3S402OPfs*3 FS insFS ins DiploidDiploid 1One 0.390.39 3232
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0004982-T01-IM5P-0004982-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma P435Rfs*42P435Rfs*42 FS insFS ins DiploidDiploid 33 0.400.40 22
P-0005475-T01-IM5P-0005475-T01-IM5 Mixed Cervical CarcinomaMixed Cervical Carcinoma M422Dfs*85M422Dfs*85 FS insFS ins DiploidDiploid 0.070.07 33
P-0005475-T02-IM5P-0005475-T02-IM5 Mixed Cervical CarcinomaMixed Cervical Carcinoma M422Dfs*85M422Dfs*85 FS insFS ins DiploidDiploid 0.410.41 44
P-0005640-T01-IM5P-0005640-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S404Hfs*107S404Hfs*107 FS insFS ins DiploidDiploid 0.240.24 99
P-0005694-T01-IM5P-0005694-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma S381*S381* NonsenseNonsense DiploidDiploid 0.160.16 66
P-0006086-T01-IM5P-0006086-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma M442Hfs*65M442Hfs*65 FS insFS ins DiploidDiploid 1One 0.120.12 22
P-0007423-T01-IM5P-0007423-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma N351Kfs*20N351Kfs*20 FS insFS ins DiploidDiploid 1One 0.450.45 55
P-0007984-T01-IM5P-0007984-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma V337Gfs*21V337Gfs*21 FS insFS ins DiploidDiploid 0.420.42 44
P-0009933-T01-IM5P-0009933-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma H441Pfs*96H441Pfs*96 FS insFS ins DiploidDiploid 1One 0.330.33 22
P-0010095-T01-IM5P-0010095-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma D335Vfs*35D335Vfs*35 FS insFS ins DiploidDiploid 0.120.12 66
P-0010508-T01-IM5P-0010508-T01-IM5 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS T322Rfs*34T322Rfs*34 FS insFS ins DiploidDiploid 0.230.23 66
P-0011432-T01-IM5P-0011432-T01-IM5 Head and Neck Squamous Cell Ca...Head and Neck Squamous Cell Ca... C284Afs*10C284Afs*10 FS delFS del DiploidDiploid 0.390.39 5555
P-0012120-T01-IM5P-0012120-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma I361Rfs*11I361Rfs*11 FS insFS ins DiploidDiploid 0.170.17 55
P-0012122-T01-IM5P-0012122-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma A313Sfs*39A313Sfs*39 FS insFS ins DiploidDiploid 0.070.07 22
P-0005230-T01-IM5P-0005230-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma R298WR298W MissenseMissense DiploidDiploid 0.050.05 6565
P-0007216-T01-IM5P-0007216-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma R298WR298W MissenseMissense DiploidDiploid 0.250.25 1111
P-0001098-T01-IM3P-0001098-T01-IM3 Mucinous Adenocarcinoma of the...Mucinous Adenocarcinoma of the... P421LP421L MissenseMissense DiploidDiploid 0.170.17 66
P-0001335-T01-IM3P-0001335-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma M356VM356V MissenseMissense DiploidDiploid 0.100.10 88
P-0004379-T01-IM5P-0004379-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma G248RG248R MissenseMissense DiploidDiploid 0.340.34 439439
P-0006034-T01-IM5P-0006034-T01-IM5 Cutaneous MelanomaCutaneous Melanoma E359KE359K MissenseMissense DiploidDiploid 0.460.46 4545
P-0000649-T01-IM3P-0000649-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma T420MT420M MissenseMissense DiploidDiploid 0.130.13 88
P-0002490-T01-IM3P-0002490-T01-IM3 Melanoma of Unknown PrimaryMelanoma of Unknown Primary S118FS118F MissenseMissense DiploidDiploid 1One 0.320.32 113113
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0004602-T01-IM5P-0004602-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma T418MT418M MissenseMissense DiploidDiploid 0.070.07 4545
P-0003743-T01-IM5P-0003743-T01-IM5 Cuttaneous MelanomaCuttaneous Melanoma S407LS407L MissenseMissense DiploidDiploid 0.060.06 99
P-0007688-T01-IM5P-0007688-T01-IM5 Colorectal AdenocarcinomaColorectal Adenocarcinoma A146TA146T MissenseMissense DiploidDiploid 1One 0.180.18 5252
P-0000947-T01-IM3P-0000947-T01-IM3 Breast Invasive Cancer, NOSBreast Invasive Cancer, NOS S137LS137L MissenseMissense DiploidDiploid 0.060.06 99
P-0003878-T01-IM5P-0003878-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma S137LS137L MissenseMissense DiploidDiploid 0.430.43 1818
P-0006558-T01-IM5P-0006558-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S137LS137L MissenseMissense DiploidDiploid 0.530.53 44
P-0000825-T01-IM3P-0000825-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma G100SG100S MissenseMissense DiploidDiploid 0.140.14 1515
P-0000821-T01-IM3P-0000821-T01-IM3 Basal Cell CarcinomaBasal Cell Carcinoma P223LP223L MissenseMissense DiploidDiploid 0.260.26 5757
P-0009924-T01-IM5P-0009924-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma G128WG128W MissenseMissense DiploidDiploid 33 0.090.09 1818
P-0000875-T01-IM3P-0000875-T01-IM3 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma S426FS426F MissenseMissense DiploidDiploid 0.080.08 1616
P-0000138-T02-IM3P-0000138-T02-IM3 Breast Mixed Ductal and Lobula...Breast Mixed Ductal and Lobula... R305QR305Q MissenseMissense DiploidDiploid 0.060.06 1414
P-0005452-T01-IM5P-0005452-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma K358delK358del IF delIF del DiploidDiploid 0.190.19 44
P-0009564-T01-IM5P-0009564-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma E262VE262V MissenseMissense DiploidDiploid 0.510.51 33
P-0001419-T01-IM3P-0001419-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma L347RL347R MissenseMissense DiploidDiploid 0.650.65 22
P-0012318-T01-IM5P-0012318-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R366QR366Q MissenseMissense DiploidDiploid 0.300.30 22
P-0005037-T01-IM5P-0005037-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R305LR305L MissenseMissense DiploidDiploid 0.350.35 55
P-0011350-T01-IM5P-0011350-T01-IM5 Mucinous Adenocarcinoma of the...Mucinous Adenocarcinoma of the... P148LP148L MissenseMissense DiploidDiploid 0.250.25 88
P-0004650-T01-IM5P-0004650-T01-IM5 Melanoma of Unknown PrimaryMelanoma of Unknown Primary S142LS142L MissenseMissense DiploidDiploid 0.170.17 5959
P-0009902-T01-IM5P-0009902-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma S142LS142L MissenseMissense DiploidDiploid 0.140.14 77
P-0005904-T01-IM5P-0005904-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S402FS402F MissenseMissense DiploidDiploid 0.140.14 33
P-0009294-T01-IM5P-0009294-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma P158LP158L MissenseMissense DiploidDiploid 1One 0.240.24 66
P-0012179-T01-IM5P-0012179-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma P158LP158L MissenseMissense DiploidDiploid 1One 0.200.20 5858
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0003511-T02-IM5P-0003511-T02-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma P425IP425I MissenseMissense DiploidDiploid 0.070.07 55
P-0007403-T01-IM5P-0007403-T01-IM5 Basaloid Large Cell Carcinoma...Basaloid Large Cell Carcinoma... R9HR9H MissenseMissense DiploidDiploid 0.130.13 1010
P-0001043-T01-IM3P-0001043-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma H281RH281R MissenseMissense DiploidDiploid 0.640.64 66
P-0005197-T01-IM5P-0005197-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma V132IV132I MissenseMissense DiploidDiploid 0.100.10 6060
P-0012113-T01-IM5P-0012113-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma V131IV131I MissenseMissense DiploidDiploid 0.160.16 244244
P-0000726-T01-IM3P-0000726-T01-IM3 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma S369YS369Y MissenseMissense DiploidDiploid 0.130.13 2929
P-0005326-T01-IM5P-0005326-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma P148TP148T MissenseMissense DiploidDiploid 0.080.08 8282
P-0005824-T01-IM5P-0005824-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma K387NK387N MissenseMissense DiploidDiploid 0.200.20 347347
P-0003654-T01-IM5P-0003654-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma G342WG342W MissenseMissense DiploidDiploid 0.110.11 2323
P-0007836-T01-IM5P-0007836-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma T279MT279M MissenseMissense DiploidDiploid 0.150.15 6565
P-0005312-T01-IM5P-0005312-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma L347IL347I MissenseMissense DiploidDiploid 0.380.38 3939
P-0006863-T01-IM5P-0006863-T01-IM5 Esophageal AdenocarcinomaEsophageal Adenocarcinoma S172LS172L MissenseMissense DiploidDiploid 0.070.07 7373
P-0006612-T01-IM5P-0006612-T01-IM5 Mucinous AdenocarcinomaMucinous Adenocarcinoma L114IL114I MissenseMissense DiploidDiploid 0.210.21 357357
P-0000988-T01-IM3P-0000988-T01-IM3 Rectal AdenocarcinomaRectal Adenocarcinoma S213LS213L MissenseMissense DiploidDiploid 0.200.20 99
P-0007319-T01-IM5P-0007319-T01-IM5 Basaloid Penile Squamous Cell...Basaloid Penile Squamous Cell... S213LS213L MissenseMissense DiploidDiploid 0.150.15 421421
P-0000870-T01-IM3P-0000870-T01-IM3 Esophageal AdenocarcinomaEsophageal Adenocarcinoma A286TA286T MissenseMissense DiploidDiploid 0.060.06 33
P-0006474-T01-IM5P-0006474-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma P163QP163Q MissenseMissense DiploidDiploid 22 0.170.17 1414
P-0008465-T02-IM5P-0008465-T02-IM5 Lung AdenocarcinomaLung Adenocarcinoma G241FG241F MissenseMissense DiploidDiploid 0.130.13 3838
P-0006783-T01-IM5P-0006783-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma R311SR311S MissenseMissense DiploidDiploid 0.100.10 66
P-0006979-T01-IM5P-0006979-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma P95LP95L MissenseMissense DiploidDiploid 0.180.18 2121
P-0004361-T02-IM5P-0004361-T02-IM5 Lung AdenocarcinomaLung Adenocarcinoma K358NK358N MissenseMissense DiploidDiploid 0.130.13 1313
P-0002954-T01-IM3P-0002954-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma K292EK292E MissenseMissense DiploidDiploid 0.110.11 1111
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0002151-T01-IM3P-0002151-T01-IM3 Lung AdenocarcinomaLung Adenocarcinoma P87TP87T MissenseMissense DiploidDiploid 0.110.11 99
P-0001224-T02-IM3P-0001224-T02-IM3 Lung AdenocarcinomaLung Adenocarcinoma S82RS82R MissenseMissense DiploidDiploid 0.300.30 2222
P-0002730-T01-IM3P-0002730-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma G232RG232R MissenseMissense DiploidDiploid 0.200.20 44
P-0007132-T01-IM5P-0007132-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma S82IS82I MissenseMissense DiploidDiploid 0.670.67 1111
P-0005755-T01-IM5P-0005755-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma G143EG143E MissenseMissense DiploidDiploid 0.050.05 66
P-0010904-T01-IM5P-0010904-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma C287FC287F MissenseMissense DiploidDiploid 0.110.11 4242
P-0012397-T01-IM5P-0012397-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma R275WR275W MissenseMissense DiploidDiploid 0.060.06 223223
P-0000613-T01-IM3P-0000613-T01-IM3 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... R9CR9C MissenseMissense DiploidDiploid 0.050.05 1010
P-0001474-T01-IM3P-0001474-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S93FS93F MissenseMissense DiploidDiploid 0.430.43 33
P-0004918-T01-IM5P-0004918-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S93FS93F MissenseMissense DiploidDiploid 0.450.45 55
P-0012072-T01-IM5P-0012072-T01-IM5 Peripheral T-Cell lymphoma, NOSPeripheral T-Cell lymphoma, NOS S93FS93F MissenseMissense DiploidDiploid 0.110.11 77
P-0001505-T01-IM3P-0001505-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma M356IM356I MissenseMissense DiploidDiploid 0.240.24 22
P-0003393-T01-IM5P-0003393-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma V337DV337D MissenseMissense DiploidDiploid 0.110.11 55
P-0003772-T01-IM5P-0003772-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma S121FS121F MissenseMissense DiploidDiploid 0.330.33 55
P-0003779-T01-IM5P-0003779-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Y345delY345del IF delIF del DiploidDiploid 0.160.16 33
P-0004379-T01-IM5P-0004379-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma C183RC183R MissenseMissense DiploidDiploid 0.310.31 439439
P-0004379-T01-IM5P-0004379-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma G278DG278D MissenseMissense DiploidDiploid 0.340.34 439439
P-0006248-T01-IM5P-0006248-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma M356_K387delM356_K387del IF delIF del DiploidDiploid 0.070.07 33
P-0006248-T02-IM5P-0006248-T02-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma M356_K387delM356_K387del IF delIF del DiploidDiploid 0.280.28 22
P-001193-T01-IM5P-001193-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma Q296KQ296K MissenseMissense DiploidDiploid 0.060.06 44
P-0008211-T02-IM5P-0008211-T02-IM5 Breast Invasive Carcinoma, NOSBreast Invasive Carcinoma, NOS T221delinsPACCELLYVPYVLT221delinsPACCELLYVPYVL IF insIF ins DiploidDiploid 0.190.19 22
P-0000597-T01-IM3P-0000597-T01-IM3 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma L190PL190P MissenseMissense DiploidDiploid 0.170.17 77
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0000893-T01-IM3P-0000893-T01-IM3 Cutaneous MelanomaCutaneous Melanoma S370RS370R MissenseMissense DiploidDiploid 0.070.07 55
P-0001560-T01-IM3P-0001560-T01-IM3 Cutaneous MelanomaCutaneous Melanoma A173TA173T MissenseMissense DiploidDiploid 0.620.62 2323
P-0002255-T01-IM3P-0002255-T01-IM3 Renal Clear Cell CarcinomaRenal Clear Cell Carcinoma L130HL130H MissenseMissense DiploidDiploid 0.210.21 33
P-0005159-T01-IM5P-0005159-T01-IM5 Cutaneous MelanomaCutaneous Melanoma S175LS175L MissenseMissense DiploidDiploid 0.190.19 103103
P-0005159-T01-IM5P-0005159-T01-IM5 Cutaneous MelanomaCutaneous Melanoma S372FS372F MissenseMissense DiploidDiploid 0.200.20 103103
P-0005366-T01-IM5P-0005366-T01-IM5 Cutaneous MelanomaCutaneous Melanoma P134SP134S MissenseMissense DiploidDiploid 0.380.38 151151
P-0003916-T01-IM3P-0003916-T01-IM3 Small Cell Lung CancerSmall Cell Lung Cancer S397YS397Y MissenseMissense DiploidDiploid 0.770.77 1212
P-0007427-T01-IM5P-0007427-T01-IM5 Small Cell Lung CancerSmall Cell Lung Cancer G99SG99S MissenseMissense DiploidDiploid 0.340.34 1313
P-0011439-T01-IM5P-0011439-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma S243YS243Y MissenseMissense DiploidDiploid 1One 0.490.49 2323
P-0012188-T01-IM5P-0012188-T01-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary A310TA310T MissenseMissense DiploidDiploid 0.250.25 2121
P-0012198-T02-IM5P-0012198-T02-IM5 Hepatocellular CarcinomaHepatocellular Carcinoma Q362RQ362R MissenseMissense DiploidDiploid 0.260.26 66
P-0000463-T01-IM3P-0000463-T01-IM3 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma N285KN285K MissenseMissense DiploidDiploid 0.510.51 1010
P-0001283-T01-IM3P-0001283-T01-IM3 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma D6HD6H MissenseMissense DiploidDiploid 0.450.45 1717
P-0001283-T01-IM3P-0001283-T01-IM3 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma A207DA207D MissenseMissense DiploidDiploid 0.460.46 1717
P-0001796-T01-IM3P-0001796-T01-IM3 High-Grade Serous Ovarian CancerHigh-Grade Serous Ovarian Cancer P111SP111S MissenseMissense DiploidDiploid 0.160.16 66
P-0002344-T01-IM3P-0002344-T01-IM3 ChoriocarcinomaChoriocarcinoma S389IS389I MissenseMissense DiploidDiploid 0.210.21 1818
P-0002709-T01-IM3P-0002709-T01-IM3 Large Cell Lung CarcinomaLarge Cell Lung Carcinoma G55CG55C MissenseMissense DiploidDiploid 0.580.58 3030
P-0002964-T02-IM3P-0002964-T02-IM3 Papillary Renal Cell CarcinomaPapillary Renal Cell Carcinoma S238RS238R MissenseMissense DiploidDiploid 0.200.20 4747
P-0003175-T01-IM5P-0003175-T01-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary W328CW328C MissenseMissense DiploidDiploid 0.060.06 2222
P-0003529-T01-IM5P-0003529-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme T215IT215I MissenseMissense DiploidDiploid 0.080.08 196196
P-0003671-T01-IM5P-0003671-T01-IM5 Renal Clear Cell CarcinomaRenal Clear Cell Carcinoma H13RH13R MissenseMissense DiploidDiploid 0.310.31 88
P-0004065-T01-IM5P-0004065-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma L428QL428Q MissenseMissense DiploidDiploid 0.250.25 3434
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0004400-T01-IM5P-0004400-T01-IM5 Glioblastoma MultiformeGlioblastoma Multiforme S139FS139F MissenseMissense DiploidDiploid 0.590.59 8484
P-0004650-T01-IM5P-0004650-T01-IM5 Melanoma of Unknown PrimaryMelanoma of Unknown Primary P424SP424S MissenseMissense DiploidDiploid 0.170.17 5959
P-0004858-T01-IM5P-0004858-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma P111HP111H MissenseMissense DiploidDiploid 0.120.12 77
P-0004858-T02-IM5P-0004858-T02-IM5 Lung AdenocarcinomaLung Adenocarcinoma P111HP111H MissenseMissense DiploidDiploid 0.320.32 99
P-0007842-T01-IM5P-0007842-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma T108IT108I MissenseMissense DiploidDiploid 1One 0.160.16 1313
P-0008480-T01-IM5P-0008480-T01-IM5 Cutaneous Squamous Cell Carcin...Cutaneous Squamous Cell Carcin... P299LP299L MissenseMissense DiploidDiploid 0.420.42 107107
P-0009985-T01-IM5P-0009985-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma S230NS230N MissenseMissense DiploidDiploid 0.260.26 3333
P-0010027-T01-IM5P-0010027-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma A441DA441D MissenseMissense DiploidDiploid 0.360.36 1313
P-0010126-T01-IM5P-0010126-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma T71MT71M MissenseMissense DiploidDiploid 0.070.07 99
P-0010515-T01-IM5P-0010515-T01-IM5 Synovial SarcomaSynovial Sarcoma D335ED335E MissenseMissense DiploidDiploid 0.250.25 33
P-0010904-T01-IM5P-0010904-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma D335YD335Y MissenseMissense DiploidDiploid 0.430.43 4242
P-0011138-T01-IM5P-0011138-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma A176GA176G MissenseMissense DiploidDiploid 0.110.11 66
P-0011452-T01-IM5P-0011452-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma P135TP135T MissenseMissense DiploidDiploid 0.050.05 55
P-0002052-T01-IM3P-0002052-T01-IM3 Lung Adenosquamous CarcinomaLung Adenosquamous Carcinoma P95HP95H MissenseMissense DiploidDiploid 0.070.07 99
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
MO 1563MO 1563 Squamous Cell Carcinoma, NOSSquamous Cell Carcinoma, NOS E106KE106K MissenseMissense 0.230.23 6161
MO 1001MO 1001 Colon AdenocarcinomaColon Adenocarcinoma V47GV47G MissenseMissense 0.070.07 11661166
MO 1563MO 1563 Squamous Cell Carcinoma, NOSSquamous Cell Carcinoma, NOS D78ND78N MissenseMissense 0.250.25 6161
TP 2122TP 2122 Metaplastic breast CancerMetaplastic Breast Cancer F105LF105L MissenseMissense 0.230.23 308308
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0003097-T01-IM5P-0003097-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma E60*E60* NonsenseNonsense DiploidDiploid 0.400.40 77
P-0004567-T01-IM5P-0004567-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma D107ND107N MissenseMissense DiploidDiploid 1One 0.110.11 4141
P-0005564-T01-IM5P-0005564-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma R135Sfs*12R135Sfs*12 FS delFS del DiploidDiploid 0.290.29 113113
P-0005427-T01-IM5P-0005427-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma E106KE106K MissenseMissense DiploidDiploid 0.100.10 2121
P-0006645-T01-IM5P-0006645-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma E106KE106K MissenseMissense DiploidDiploid 0.240.24 3939
P-0006905-T01-IM5P-0006905-T01-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma Q94Afs*4Q94Afs*4 FS insFS ins DiploidDiploid 0.190.19 55
P-0007289-T02-IM5P-0007289-T02-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma G13RG13R MissenseMissense DiploidDiploid 0.180.18 55
P-0006110-T01-IM5P-006110-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma F105Kfs*33F105Kfs*33 FS delFS del DiploidDiploid 0.260.26 88
P-0003222-T01-IM5P-0003222-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma E98*E98* NonsenseNonsense DiploidDiploid 0.060.06 3636
P-0008134-T01-IM5P-0008134-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma K5MK5M MissenseMissense DiploidDiploid 0.140.14 55
P-0006131-T01-IM5P-0006131-T01-IM5 Gallbladder CancerGallbladder Cancer R3GR3G MissenseMissense DiploidDiploid 0.070.07 44
P-0008229-T01-IM5P-0008229-T01-IM5 Head and Neck Squmous Cell Ca...Head and Neck Squmous Cell Ca... E98KE98K MissenseMissense DiploidDiploid 0.080.08 88
P-0007052-T01-IM5P-0007052-T01-IM5 Upper Tract Urothelial CarcinomaUpper Tract Urothelial Carcinoma R50*R50* NonsenseNonsense DiploidDiploid 0.270.27 5858
P-0008027-T01-IM5P-0008027-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R50*R50* NonsenseNonsense DiploidDiploid 0.150.15 33
P-0008647-T01-IM5P-0008647-T01-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... S32CS32C MissenseMissense DiploidDiploid 0.200.20 2626
P-0003214-T01-IM5P-0003214-T01-IM5 CholangiocarcinomaCholangiocarcinoma Q69KQ69K MissenseMissense DiploidDiploid 0.140.14 55
P-0006719-T01-IM5P-0006719-T01-IM5 Cutaneous MelanomaCutaneous Melanoma R18LR18L MissenseMissense DiploidDiploid 0.380.38 3838
P-0007918-T01-IM5P-0007918-T01-IM5 Cutaneous MelanomaCutaneous Melanoma A25VA25V MissenseMissense DiploidDiploid 0.330.33 5757
P-0008328-T01-IM5P-0008328-T01-IM5 Oropharynx Squamous Cell Carci...Oropharynx Squamous Cell Carci... R9SR9S MissenseMissense DiploidDiploid 0.330.33 1111
P-0004746-T01-IM5P-0004746-T01-IM5 Sarcomatoid Carcinoma of the L...Sarcomatoid Carcinoma of the L... Q6PQ6P MissenseMissense DiploidDiploid 0.300.30 33
P-0007626-T01-IM5P-0007626-T01-IM5 Cancer of Unknown PrimaryCancer of Unknown Primary X37_spliceX37_splice SpliceSplice DiploidDiploid 0.080.08 1010
P-0010202-T01-IM5P-0010202-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma A2Pfs*35A2Pfs*35 FS delFS del DiploidDiploid 0.150.15 1111
P-0012113-T01-IM5P-0012113-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma I75TI75T MissenseMissense DiploidDiploid 0.220.22 244244
P-0010860-T02-IM5P-0010860-T02-IM5 Salivary Duct CarcinomqSalivary Duct Carcinomq Q6HQ6H MissenseMissense DiploidDiploid 0.050.05 2222
P-0012227-T01-IM5P-0012227-T01-IM5 OligodendroglliomaOligodendroglioma Y55*Y55* NonsenseNonsense DiploidDiploid 0.270.27 66
Sample IDSample ID Protein ChangeProtein Change Mutation TypeMutation Type COSMICCOSMIC Allele Freq(T)Allele Freq(T) # Mut in Sample# Mut in Sample
MO 1074MO 1074 X228_spliceX228_splice SpliceSplice 0.170.17 6060
MO 1490MO 1490 K275TK275T MissenseMissense 0.150.15 135135
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0003309-T01-IM5P-0003309-T01-IM5 Waldenstrom MacroglobullinemiaWaldenstrom Macroglobulinemia L265PL265P MissenseMissense DiploidDiploid 11731173 0.320.32 44
P-0004440-T01-IM5P-0004440-T01-IM5 Peritoneal MesotheliomaPeritoneal Mesothelioma L265PL265P MissenseMissense DiploidDiploid 11731173 0.020.02 22
P-0005926-T01-IM5P-0005926-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... L265PL265P MissenseMissense DiploidDiploid 11731173 0.410.41 2828
P-0006825-T01-IM5P-0006825-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma L265PL265P MissenseMissense DiploidDiploid 11731173 0.040.04 33
P-0006899-T01-IM5P-006899-T01-IM5 Mature B-Cell NeoplamsMature B-Cell Neoplams L265PL265P MissenseMissense DiploidDiploid 11731173 0.350.35 44
P-0007821-T02-IM5P-0007821-T02-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... L265PL265P MissenseMissense DiploidDiploid 11731173 0.420.42 1010
P-0008723-T01-IM5P-0008723-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma L265PL265P MissenseMissense DiploidDiploid 11731173 0.040.04 66
P-0008840-T01-IM5P-0008840-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma L265PL265P MissenseMissense DiploidDiploid 11731173 0.030.03 77
P-0008965-T01-IM5P-0008965-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... L265PL265P MissenseMissense DiploidDiploid 11731173 0.430.43 88
P-0010729-T01-IM5P-0010729-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... L265PL265P MissenseMissense DiploidDiploid 11731173 0.600.60 55
P-0011425-T01-IM5P-0011425-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... L265PL265P MissenseMissense DiploidDiploid 11731173 0.130.13 1212
P-0012201-T01-IM5P-0012201-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... L265PL265P MissenseMissense DiploidDiploid 11731173 0.780.78 2525
P-0012265-T01-IM5P-0012265-T01-IM5 Mature B-Cell NeoplamsMature B-Cell Neoplams L265PL265P MissenseMissense DiploidDiploid 11731173 0.120.12 22
P-0005803-T01-IM5P-0005803-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... S243NS243N MissenseMissense DiploidDiploid 99 0.360.36 2929
P-0010244-T01-IM5P-0010244-T01-IM5 Breast Mixed Ductal and Lobula...Breast Mixed Ductal and Lobula... S243NS243N MissenseMissense DiploidDiploid 99 0.050.05 22
P-0000880-T01-IM3P-0000880-T01-IM3 Plasmacytoid/Signet Ring Cell...Plasmacytoid/Signet Ring Cell... E139KE139K MissenseMissense DiploidDiploid 0.060.06 88
P-0003719-T01-IM5P-0003719-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma S219CS219C MissenseMissense DiploidDiploid 1414 0.350.35 4949
P-0008556-T01-IM5P-0008556-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... S219CS219C MissenseMissense DiploidDiploid 1414 0.500.50 88
P-0001808-T01-IM3P-0001808-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma R301CR301C MissenseMissense DiploidDiploid 1One 0.080.08 159159
P-0000788-T01-IM3P-0000788-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma Q189*Q189* DiploidDiploid 0.270.27 1515
P-0005908-T01-IM5P-0005908-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma R5CR5C MissenseMissense DiploidDiploid 0.270.27 1010
P-0008539-T01-IM5P-0008539-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma E172*E172* DiploidDiploid 0.130.13 1313
P-0007688-T01-IM5P-0007688-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma A13VA13V MissenseMissense DiploidDiploid 0.100.10 5252
P-0012230-T01-IM5P-0012230-T01-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma D184ND184N MissenseMissense DiploidDiploid 0.050.05 3535
P-0012402-T01-IM5P-0012402-T01-IM5 Colon AdenocarcinomaColon Adenocarcinoma D184ND184N MissenseMissense DiploidDiploid 0.130.13 240240
P-0000149-T02-IM3P-0000149-T02-IM3 Lung AdenocarcinomaLung Adenocarcinoma D184ND184N MissenseMissense DiploidDiploid 0.060.06 55
P-0006779-T01-IM5P-006779-T01-IM5 Lung AdenocarcinomaLung Adenocarcinoma M67VM67V MissenseMissense DiploidDiploid 0.070.07 44
P-0001197-T01-IM3P-0001197-T01-IM3 Stomach AdenocarcinomaStomach Adenocarcinoma V27AV27A MissenseMissense DiploidDiploid 0.100.10 33
Sample IDSample ID Cancer TypeCancer Type Protein ChangeProtein Change Mutation TypeMutation Type Copy #Copy # COSMICCOSMIC Allele Freq (T)Allele Freq (T) # Mut in Sample# Mut in Sample
P-0004762-T01-IM5P-0004762-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma D288ND288N MissenseMissense DiploidDiploid 0.310.31 66
P-0002547-T01-IM3P-0002547-T01-IM3 Colon AdenocarcinomaColon Adenocarcinoma P19SP19S MissenseMissense DiploidDiploid 0.180.18 66
P-0011141-T01-IM5P-0011141-T01-IM5 Bladder Urothelial CarcinomaBladder Urothelial Carcinoma E70KE70K MissenseMissense DiploidDiploid 0.120.12 77
P-0012179-T01-IM5P-0012179-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma R301HR301H MissenseMissense DiploidDiploid 1One 0.210.21 5858
P-0000105-T01-IM3P-0000105-T01-IM3 Uterine Serous Carcinoma/Uteri...Uterine Serous Carcinoma/Uteri... S296CS296C MissenseMissense DiploidDiploid 0.260.26 66
P-0004379-T01-IM5P-0004379-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma T84AT84A MissenseMissense DiploidDiploid 0.320.32 439439
P-0004379-T01-IM5P-0004379-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma Y240CY240C MissenseMissense DiploidDiploid 0.310.31 439439
P-0005564-T01-IM5P-0005564-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma P292TP292T MissenseMissense DiploidDiploid 0.450.45 113113
P-0005855-T01-IM5P-0005855-T01-IM5 Breast Invasive Ductal CarcinomaBreast Invasive Ductal Carcinoma R101Afs*19R101Afs*19 FS delFS del DiploidDiploid 0.220.22 66
P-0007129-T02-IM5P-0007129-T02-IM5 Breast Invasive Lobular Carcin...Breast Invasive Lobular Carcin... I130MI130M MissenseMissense DiploidDiploid 0.480.48 1515
P-0010744-T01-IM5P-0010744-T01-IM5 Anaplastic OligodendrogliomaAnaplastic Oligodendroglioma T61IT61I MissenseMissense DiploidDiploid 0.070.07 102102
P-0010744-T01-IM5P-0010744-T01-IM5 Anaplastic OligodendrogliomaAnaplastic Oligodendroglioma G96DG96D MissenseMissense DiploidDiploid 0.050.05 102102
P-0003852-T01-IM5P-0003852-T01-IM5 Prostate AdenocarcinomaProstate Adenocarcinoma MYD88-ACAA1 fusionMYD88-ACAA1 fusion FusionFusion DiploidDiploid 33
P-0004936-T01-IM5P-0004936-T01-IM5 Oral Cavity Squamous Cell Carc...Oral Cavity Squamous Cell Carc... Q262EQ262E MissenseMissense DiploidDiploid 0.080.08 77
P-0007076-T03-IM5P-0007076-T03-IM5 Neuroendocrine Carcinoma, NOSNeuroendocrine Carcinoma, NOS P83SP83S MissenseMissense DiploidDiploid 0.210.21 168168
P-0010064-T01-IM5P-0010064-T01-IM5 Merkel Cell CarcinomaMerkel Cell Carcinoma P11LP11L MissenseMissense DiploidDiploid 0.430.43 1One
P-0010136-T01-IM5P-0010136-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma P9LP9L MissenseMissense DiploidDiploid 0.330.33 99
P-0011208-T01-IM5P-0011208-T01-IM5 Pancreatic AdenocarcinomqPancreatic Adenocarcinomq R41PR41P MissenseMissense DiploidDiploid 0.330.33 99
P-0012113-T01-IM5P-0012113-T01-IM5 Uterine Endometrioid CarcinomaUterine Endometrioid Carcinoma R94HR94H MissenseMissense DiploidDiploid 0.220.22 244244
P-0008299-T02-IM5P-0008299-T02-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... K271TK271T MissenseMissense DiploidDiploid 0.420.42 88
P-0008299-T01-IM5P-0008299-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... K271TK271T MissenseMissense DiploidDiploid 0.360.36 88
P-0011526-T01-IM5P-0011526-T01-IM5 OsteosarcomaOsteosarcoma MYD88-CTDSPL fusionMYD88-CTDSPL fusion FusionFusion DiploidDiploid 44
P-0005931-T01-IM5P-0005931-T01-IM5 Lung Squamous Cell CarcinomaLung Squamous Cell Carcinoma OXSR-MYD88 fusionOXSR-MYD88 fusion FusionFusion DiploidDiploid 1010
P-0009696-T01-IM5P-0009696-T01-IM5 Diffuse Large B-Cell Lymphoma,...Diffuse Large B-Cell Lymphoma,... MYD88-VILL fusionMYD88-VILL fusion FusionFusion DiploidDiploid 1313

Claims (21)

  1. CREBBP(CREB Binding Protein), ESR1(Estrogen Receptor 1), GATA3(GATA Binding Protein 3), H3F3B(H3.3 Histone B) 및 MYD88(MYD88 Innate Immune Signal Transduction Adaptor)로 이루어진 군으로부터 선택되는 하나 이상을 암호화하는 유전자의 돌연변이를 포함하는, 고형암 환자의 전이기간에 따른 치료 효과 예측 또는 예후 진단용 마커 조성물.Encodes at least one selected from the group consisting of CREBBP (CREB Binding Protein), ESR1 (Estrogen Receptor 1), GATA3 (GATA Binding Protein 3), H3F3B (H3.3 Histone B) and MYD88 (MYD88 Innate Immune Signal Transduction Adapter) A marker composition for predicting treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient, comprising a mutation of a gene.
  2. 제 1항에 있어서,The method of claim 1,
    상기 CREBBP을 암호화하는 유전자의 돌연변이는 서열번호 1이 암호화하는 하기 돌연변이로 이루어진 군에서 선택된 하나 이상인 것을 특징으로 하는, 마커 조성물:The mutation of the gene encoding CREBBP is characterized in that at least one selected from the group consisting of the following mutations encoded by SEQ ID NO: 1, a marker composition:
    Y2189S, Q1756E, S2394F, L829F, S977L, A259T, R1328M, G587R, R672L, T345I, Y1622H, D1480N, P988S, P1096A, R351H, G689R, A2265V, Q662H, R1446C, R1446H, W1502C, Y1450D, D1435G, W1472R, Y1503H, R1446S, L1499Q, D1435N, R1446P, Y1450N, Y1482C, W1502R, Y1482N, Y1482D, L1499R, W1502C, W1472G, W1502L, I1431S, R1446C, I1431N, Y1503N, V1802M, S1778L, T396K, A1782V, E1550Q, S2372L, T1688M, R2104C, R1664C, T1260M, T950M, C1408Y, R424Q, R625H, R1081H, R601Q, P248L, M1798I, S1072F, P949L, A1824T, R1682H, R1428C, A206V, Y1167C, A2144V, V1650I, A259T, V1634M, T872M, R1427W, S1136Y, D1481N, E1243D, F1439L, R1319Q, R714C, E1012K, R1347W, D1481G, D1273N, A1944P, K1809R, E1247K, P2038L, G706R, P766L, P928S, R1800Q, V1371F, R714H, S945L, A557T, R669W, R1392Q, S71L, S32L, G896R, R1602H, R519K, C1240Y, N645K, P107L, Y1973H, N2141K, S554F, R742L, Q963H, T862M, G21D, A698V, A533T, G2010E, A1510V, P907S, R1851H, Q2292R, Q249H, R1498Q, N530S, S1923R, G1145W, K1139T, R1866C, P2285H, A1398V, M2192I, T1932M, Q1698L, G1699D, E1020G, N522S, P1889L, H2178Y, P2011S, I1455N, S2065N, K1269N, Q1928H, A259S, R2353W, Y1828C, N797K, P496L, R1378L, S791T, G1404S, Q1941L, T959A, S2076L, H1451R, Q887K, L1211S, R1800L, V992L, I678M, G252C, H1470L, Q1113H, Q102R, D2433G, E1099K, T1210A, L869F, T537P, V460F, E2404K, A787V, M1021I, P552L, L833V, E637K, P2331S, V89M, A2066T, R1964C, E1000K, D1156N, T1902M, S767Y, E1459Q, E1452K, N374I, Q1879E, G2162R, E1400Q, F1540S, S893W, E1501K, H1351D, S479I, H1485Y, D1276H, Q2299K, E1626Q, T320I, Q1152E, S2377L, K1271R, R1960Q, E1528K, Y1433H, L1329R, A2392T, A2419V, Y1125H, S1207F, E1088K, R1317K, V2149M, S139N, P975S, G1305D, R624C, T4668S, P1953S, S247F, S2361F, T1242S, V1429M, L33F, D1543V, S566F, R1341P, P2383L, S2372W, D2282H, Y1433N, P704L, L2198Q, S554F, P2352L, P2415L, G219V, P1489T, QP1257HS, P1488L, E548K, D1309N, V1371D, E1400K, E1576D, A1739V, Q610H, L161M, W1545L, C1199F, H2384R, E1963D, V2002M, Q786P, Q887E, G822A, P528L, A924T, L1181R, F22L, V1818M, P432S, Q2103K, V1704F, E371Q, D1420A, P2331L, R2195K, P1110L, V824M, D599N, G268R, P2187L, P2155S, S2345F, E996K, G591S, A2046V, Q2324K, M2391I, V1429A, G2132V, G57E, R1441Q, P173L, T586I, Q842H, P248S, P308S, S1030F, P957A, S646N, R1985L, G1418V, M481V, P543L, P2311L, A2170T, A924V, E1715K, D1263N, P1997L, P1951L, R1173G, P1991L, E1285K, G1374E, S2322L, L353V, G2306V, H1712Y, L2171F, M1625N, P1208S, H1738N, M1981I, Q1863R, L679F, W1745C, G2236E, G1753V, A1093V, V2056M, A476T, H1413P, V1722E, A924S, R1866L, R1926W, F1632V, A1870P, C398Y, L2254F, E2191K, K1269N, R218T, G214V, S121I, G1411R, N1350I, T1332P, P1488T, D1480H 및 I1483S로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;Y2189S, Q1756E, S2394F, L829F, S977L, A259T, R1328M, G587R, R672L, T345I, Y1622H, D1480N, P988S, P1096A, R351H, G689R, A2265V, Q662H, R1446C, R1446H, W1472R W Y Y, R1446H, W1472R R1446S, L1499Q, D1435N, R1446P, Y1450N, Y1482C, W1502R, Y1482N, Y1482D, L1499R, W1502C, W1472G, W1502L, I1431S, R1446C, I1431N, Y1503N, V1802M, T396K1778L, R1782V, E5503N, V1802M, T396K1778L, R1782V R1664C, T1260M, T950M, C1408Y, R424Q, R625H, R1081H, R601Q, P248L, M1798I, S1072F, P949L, A1824T, R1682H, R1428C, A206V, Y1167C, A2144V, V1650I, A2591, S136M, R1427W16341, T872, V E1243D, F1439L, R1319Q, R714C, E1012K, R1347W, D1481G, D1273N, A1944P, K1809R, E1247K, P2038L, G706R, P766L, P928S, R1800Q, V1371F, R714H, S945L, S1392Q, S945L, S32557T, R669W, R32557T R1602H, R519K, C1240Y, N645K, P107L, Y1973H, N2141K, S554F, R742L, Q963H, T862M, G21D, A698V, A533T, G2010E, A1510V, P907S, R1851H, Q2292R, Q11249H, K1498Q, N530S, K1498Q, N530S R1866C, P2285H, A1398V, M2192I, T1932M, Q1698L, G1699D, E1020G, N522S, P1889L, H2178Y, P2011S, I1455N, S2065N, K1269N, Q1928H, A259S, R2353W, Y1828C, N797K, P496L, R1378L, S791T, G1404S, Q1941L, L1451211S, Q1941L, L1451211R, S2065N, L1451211R, S2065N, K1269N, Q1928H, A259S V992L, I678M, G252C, H1470L, Q1113H, Q102R, D2433G, E1099K, T1210A, L869F, T537P, V460F, E2404K, A787V, M1021I, P552L, L833V, E637K, P2331S, D1156M, T2066T, R1964C, A190 S767Y, E1459Q, E1452K, N374I, Q1879E, G2162R, E1400Q, F1540S, S893W, E1501K, H1351D, S479I, H1485Y, D1276H, Q2299K, E1626Q, T320I, Q1152E, S2377L, K1271T, R1433H, L1271T, R1433H, K1271T, R, A2419V, Y1125H, S1207F, E1088K, R1317K, V2149M, S139N, P975S, G1305D, R624C, T4668S, P1953S, S247F, S2361F, T1242S, V1429M, L33F, D1543V, S566F, R1341P, P2383L, S237704 L2198Q, S554F, P2352L, P2415L, G219V, P1489T, QP1257HS, P1488L, E548K, D1309N, V1371D, E1400K, E1576D, A1739V, Q610H, L161M, W1545L, C1199F, H2384R, G786P, H2384R, E5281963D A924T, L1181R, F22L, V1818M, P432S, Q21 03K, V1704F, E371Q, D1420A, P2331L, R2195K, P1110L, V824M, D599N, G268R, P2187L, P2155S, S2345F, E996K, G591S, A2046V, Q2324K, M2391I, V1429A, G2132V, P1429A, G2132V P248S, P308S, S1030F, P957A, S646N, R1985L, G1418V, M481V, P543L, P2311L, A2170T, A924V, E1715K, D1263N, P1997L, P1951L, R1173G, P1991L, H17E12Y, S232V2L, H17E12Y2, L232V21374 M1625N, P1208S, H1738N, M1981I, Q1863R, L679F, W1745C, G2236E, G1753V, A1093V, V2056M, A476T, H1413P, V1722E, A924S, R1866L, R1926W, F1632V, K1870P, C398Y, G1870N, C398Y at least one missense mutation selected from the group consisting of S121I, G1411R, N1350I, T1332P, P1488T, D1480H and I1483S;
    G572*, Q771*, Q497*, R1360*, R1173*, Q1073*, Q1796*, R1498*, R1103*, R1341*, Q1756*, Q887*, Q1856*, S985*, E349*, R1672*, Q1928*, Y1230*, S1065*, Q2235*, Y1726*, R440*, Y659*, E1243*, Q719*, E1205*, R1392*, R386*, L243*, Q540*, R424*, Q517*, E1000*, Q1148*, S547*, Q357*, R370*, E1626*, S381*, Q2103*, S331*, Q1852*, Y1828*, K68*, Q963*, Q356*, R2004*, E1559*, Q203*, Q919*, K1051*, Q1041*, Q1941*, Y1460*, S1030_K1033delins* 및 W1158*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;G572*, Q771*, Q497*, R1360*, R1173*, Q1073*, Q1796*, R1498*, R1103*, R1341*, Q1756*, Q887*, Q1856*, S985*, E349*, R1672*, Q1928* , Y1230*, S1065*, Q2235*, Y1726*, R440*, Y659*, E1243*, Q719*, E1205*, R1392*, R386*, L243*, Q540*, R424*, Q517*, E1000*, Q1148 *, S547*, Q357*, R370*, E1626*, S381*, Q2103*, S331*, Q1852*, Y1828*, K68*, Q963*, Q356*, R2004*, E1559*, Q203*, Q919*, at least one nonsense mutation selected from the group consisting of K1051*, Q1041*, Q1941*, Y1460*, S1030_K1033delins* and W1158*;
    I1084Sfs*15, P1946Hfs*30, F1523Sfs*27, H2384Tfs*12, T1574Pfs*61, S801Qfs*29, L524Wfs*6, Q232Rfs*12, P1423Lfs*36, S1065*, P928Rfs*70, L545Ffs*16, N1612Tfs*23, S893Pfs*27, S1382Yfs*2, L243*, H408Ifs*26, C1444Hfs*6, K1505Rfs*45, E1054Dfs*4, G1815Pfs*149, E72Afs*10, V2012Sfs*28, N2181Kfs*5, E371Kfs*53, Y659Tfs*7, E1061Rfs*4, K1051Rfs*5, V1057*, L1692Rfs*50, C1178Afs*72, G587Kfs*19, C1311*, M784Ifs*17, T163Afs*13, I1493Yfs*57, E594Dfs*11, C1783Afs*16 및 I1189Lfs*61로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;I1084Sfs*15, P1946Hfs*30, F1523Sfs*27, H2384Tfs*12, T1574Pfs*61, S801Qfs*29, L524Wfs*6, Q232Rfs*12, P1423Lfs*36, S1065*, P928Rfs*2316, L516F , S893Pfs*27, S1382Yfs*2, L243*, H408Ifs*26, C1444Hfs*6, K1505Rfs*45, E1054Dfs*4, G1815Pfs*149, E72Afs*10, V2012Sfs*28, N2181Kfs*5, E371Kfs*53, E371Kfs*53 7, E1061Rfs*4, K1051Rfs*5, V1057*, L1692Rfs*50, C1178Afs*72, G587Kfs*19, C1311*, M784Ifs*17, T163Afs*13, I1493Yfs*57, E594Dfs*11, C1783Afs*16, and I1783Afs*16 at least one frame shift delete mutation selected from the group consisting of 61;
    L1346Ffs*8, I1084Nfs*3, Q1209Tfs*25, P1947Tfs*19, S1172Qfs*7, P2077Afs*264, H397Afs*30, S1737Rfs*8, G77Afs*9 및 S1598Kfs*19로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 삽입(frame shift insert) 돌연변이;At least one frame shift selected from the group consisting of L1346Ffs*8, I1084Nfs*3, Q1209Tfs*25, P1947Tfs*19, S1172Qfs*7, P2077Afs*264, H397Afs*30, S1737Rfs*8, G77Afs*9 and S1598Kfs*19. frame shift insert mutation;
    M2115_G2120dup인 인프레임 삽입(inframe insert) 돌연변이;M2115_G2120dup, an inframe insert mutation;
    S1680del K1588del 및 Q2216del로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 결실(inframe delete) 돌연변이;at least one inframe delete mutation selected from the group consisting of S1680del K1588del and Q2216del;
    X1203_splice, X1305_splice, X406_splice, X1021_splice, X1427_splice, X961_splice, X1465_splice, X1084_splice, X29_splice, X705_splice, X1378_splice, X406_splice, X1305_splice, X1576_splice, X266_splice, X525_splice 및 X406_splice X1465_splice로 이루어진 군으로부터 선택되는 적어도 하나의 적어도 하나의 스플라이스(splice) 돌연변이; 및X1203_splice, X1305_splice, X406_splice, X1021_splice, X1427_splice, X961_splice, X1465_splice, X1084_splice, X29_splice, X705_splice, X1378_splice, X406_splice, X1305_splice, X1576_splice, X266_splice, X525_splice 및 X406_splice X1465_splice로 이루어진 군으로부터 선택되는 적어도 하나의 적어도 하나의 스플라이스(splice ) mutations; and
    CREBBP-CRAMP1L fusion, CREBP-NARFL fusion, TRAP1-CREBBP fusion, CREBBP-intragenic, CREBBP-TRAP1 fusion, CREBBP-TIGD7 fusion, TSG1-CREBBP fusion, CREBBP-SRRM2 fusion, CREBBP-TBL3 fusion 및 CREBBP-DNASE1 fusion로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.CREBBP-CRAMP1L fusion, CREBP-NARFL fusion, TRAP1-CREBBP fusion, CREBBP-intragenic, CREBBP-TRAP1 fusion, CREBBP-TIGD7 fusion, TSG1-CREBBP fusion, CREBBP-SRRM2 fusion, CREBBP-TBL3 fusion and CREBBP-DNASE1 fusion consisting of at least one fusion mutation selected from the group.
  3. 제 1항에 있어서,The method of claim 1,
    상기 ESR1를 암호화하는 유전자의 돌연변이는 서열번호 2이 암호화하는 아미노산 서열에서 하기 돌연변이로 이루어진 군에서 선택된 하나 이상인 것을 특징으로 하는, 마커 조성물:The mutation of the gene encoding ESR1 is characterized in that at least one selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 2, a marker composition:
    S554N, D538G, N290K, Y537S, D538G, S433P, G77D, P38L, Y537C, Y537N, D538G, E380Q, L536Q, L536R, Y537S, S463P, L536H, L536P, Y537D, S463P, R211I, R548C, S341L, T311M, V533M, V392I, D218N, Q159L, R37L, R243C, R394H, R477Q, R28H, R243H, A361V, E56K, E330K, L370F, H488Y, N519S, T585M, T228A, Q506H, R259Q, M109T, A350E, R269H, S576L, A87T, S294R, D564Y, A307P, L410S, Y54C, K206T, L26M, G57C, C237Y, P113L, Q314K, R158C, R157Q, E203V, S338R, D369Y, A65V, D258Y, K32Q, A361E, A361T, R269C, G344D, P333T, R548H, V478L, A207T, P25T, D374Y, N532K, S432L, A546D, E542G, V534E, G442R, V418E, F461V, L466Q, G442R, S329Y, Y80H, G160D, M421V, K252N, L540Q, L403R, T224I, E385D, R277S, R151K, G590S, L117Q, M437I, G57S, G284E, D564N, N304H, H398P, R193G, K48N, P324S, A593V, A288T, T4A, R211S, R260K, L15V, K449R, P325S, R363K, E470K, P147Q, V478I 및 R183C로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;S554N, D538G, N290K, Y537S, D538G, S433P, G77D, P38L, Y537C, Y537N, D538G, E380Q, L536Q, L536R, Y537S, S463P, L536H, L536P, Y537D, S463P, V2153I, R463P, V V392I, D218N, Q159L, R37L, R243C, R394H, R477Q, R28H, R243H, A361V, E56K, E330K, L370F, H488Y, N519S, T585M, T228A, Q506H, R259Q, M109T, A350E, R269H, S576R, A269H, S576R D564Y, A307P, L410S, Y54C, K206T, L26M, G57C, C237Y, P113L, Q314K, R158C, R157Q, E203V, S338R, D369Y, A65V, D258Y, K32Q, A361E, A361T, R269C, G344D, P333T, R548H, V4 A207T, P25T, D374Y, N532K, S432L, A546D, E542G, V534E, G442R, V418E, F461V, L466Q, G442R, S329Y, Y80H, G160D, M421V, K252N, L540Q, L403R, R277S, E385D, T224I, G L117Q, M437I, G57S, G284E, D564N, N304H, H398P, R193G, K48N, P324S, A593V, A288T, T4A, R211S, R260K, L15V, K4349R, P325S, R363K, E470K, P147Q, V478I and R18349C at least one missense mutation;
    Y60*, C245*, E444*, R256* 및 K401*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of Y60*, C245*, E444*, R256* and K401*;
    L536Qfs*2, P99Hfs*10, I326Yfs*17, P99Hfs*10, G96Vfs*13 및 *594fs*로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;at least one frame shift delete mutation selected from the group consisting of L536Qfs*2, P99Hfs*10, I326Yfs*17, P99Hfs*10, G96Vfs*13 and *594fs*;
    L100Tfs*57, G521Rfs*18 및 E275Gfs*5로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 삽입(frame shift insert) 돌연변이;at least one frame shift insert mutation selected from the group consisting of L100Tfs*57, G521Rfs*18 and E275Gfs*5;
    D538_L539insHD 및 Q500dup로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 삽입(inframe insert) 돌연변이;at least one inframe insert mutation selected from the group consisting of D538_L539insHD and Q500dup;
    V422del 및 Y328_S329del로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 결실(inframe delete) 돌연변이; 및at least one inframe delete mutation selected from the group consisting of V422del and Y328_S329del; and
    TACR1-ESR1 fusion, ESR1-NCOA3 fusion 및 ESR1-C6orf97 fusion 로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.At least one fusion mutation selected from the group consisting of TACR1-ESR1 fusion, ESR1-NCOA3 fusion and ESR1-C6orf97 fusion.
  4. 제 1항에 있어서,The method of claim 1,
    상기 GATA3를 암호화하는 유전자의 돌연변이는 서열번호 3이 암호화하는 아미노산 서열에서 하기 돌연변이로 이루어진 군에서 선택된 하나 이상인 것을 특징으로 하는, 마커 조성물:The mutation of the gene encoding GATA3 is characterized in that at least one selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 3, a marker composition:
    N331I, S175W, Y229H, C266S, M293K, R364S, R364G, R364T, R298W, P421L, M356V, G248R, E359K, T420M, S118F, T418M, S407L, A146T, S137L, G100S, P223L, G128W, S426F, R305Q, E262V, L347R, R366Q, R305L, P148L, S142L, S402F, P158L, P425I, R9H, H281R, V132I, S369Y, P148T, K387N, G342W, T279M, L347I, S172L, L114I, S213L, A286T, P163Q, G241F, R311S, P95L, K358N, K292E, P98T, S82R, G232R, S82I, G143E, C287F, R275W, R9C, S93F, M356I, V337D, S121F, C183R, G278D, Q296K, L190P, S370R, A173T, L130H, S175L, S372F, P134S, S397Y, G99S, S243Y, A310T, Q362R, N285K, D6H, A207D, P111S, S389I, G55C, S238R, W328C, T215I, H13R, L428Q, S139F, P424S, P111H, T108I, P299L, S230N, A441D, T71M, D335E, D335Y, A176G, P135T 및 P95H로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;N331I, S175W, Y229H, C266S, M293K, R364S, R364G, R364T, R298W, P421L, M356V, G248R, E359K, T420M, S118F, T418M, S407L, A146T, S137L, G100S, P223L, G128W, S4 L347R, R366Q, R305L, P148L, S142L, S402F, P158L, P425I, R9H, H281R, V132I, S369Y, P148T, K387N, G342W, T279M, L347I, S172L, L114I, S213L, A286T, P163Q, G241F, R311S, P148T K358N, K292E, P98T, S82R, G232R, S82I, G143E, C287F, R275W, R9C, S93F, M356I, V337D, S121F, C183R, G278D, Q296K, L190P, S370R, A173T, L130H, S175L, S372F, P134S, S372F, P134S, S397Y G99S, S243Y, A310T, Q362R, N285K, D6H, A207D, P111S, S389I, G55C, S238R, W328C, T215I, H13R, L428Q, S139F, P424S, P111H, T108I, P299L, S230N, A441D, T71M, D335E, T335M at least one missense mutation selected from the group consisting of A176G, P135T and P95H;
    Q73*, R366*, R390*, K377* 및 S381*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of Q73*, R366*, R390*, K377* and S381*;
    E359Afs*44, S407Afs*99, S237Afs*28, V378Cfs*26, P135Rfs*60, D335Pfs*16, P408Lfs*98, R329Gfs*17, G246Afs*19, L396Qfs*109, H123Pfs*69, A394Lfs*110, S436Pfs*39, P408Qfs*97, T418Afs*86, P432Tfs*74, G443Vfs*32, P408Qfs*97, M438Wfs*37, T355Qfs*97, F430Sfs*38, G431Tfs*41, T355*, L416Pfs*83, S437Rfs*38, L396Hfs*107, S390Rfs*112, A441Pfs*34, P424Rfs*51, K387Rfs*17, C320Wfs*18, R330Mfs*20, N331Gfs*17 및 C284Afs*10로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;E359Afs*44, S407Afs*99, S237Afs*28, V378Cfs*26, P135Rfs*60, D335Pfs*16, P408Lfs*98, R329Gfs*17, G246Afs*19, L396Qfs*109, H123Pfs*69, A394436Pfs*110, A394436Pfs* 39, P408Qfs*97, T418Afs*86, P432Tfs*74, G443Vfs*32, P408Qfs*97, M438Wfs*37, T355Qfs*97, F430Sfs*38, G431Tfs*41, T355*, L416Pfs*83, S437Rfs*38, L396RfsHfs At least one frame shift delete selected from the group consisting of *107, S390Rfs*112, A441Pfs*34, P424Rfs*51, K387Rfs*17, C320Wfs*18, R330Mfs*20, N331Gfs*17 and C284Afs*10. ) mutations;
    A441Hfs*44, D335Gfs*17, R330Efs*22, H434Pfs*42, S426Yfs*50, P408Afs*99, D335Gfs*17, P408Afs*99, G431Wfs*76, H434Pfs*73, D335Gfs*21, S426Ifs*81, P408Afs*99, S436Lfs*71, G334Wfs*18, C320Lfs*32, S237Qfs*66, S237Qfs*66, S401Vfs*106, S413Qfs*94, P435Tfs*41, M422Dfs*85, V47Gfs*6, *444Lfs*63, A441Rfs*66, N331Efs*21, S401Ffs*106, S426Afs*82, G314Rfs*38, H405Efs*103, N319Efs*33, T315Kfs*37, R330Nfs*24, H434Tfs*42, R69Qfs*234, C338Lfs*14, R330Efs*22, T417Dfs*90, M356Nfs*15, T440Sfs*68, A332Cfs*20, T332Dfs*30, Y344Sfs*12, N333Kfs*19, G443Pfs*34, P419Afs*88, F430Lfs*77, S402Pfs*3, P435Rfs*42, M422Dfs*85, S404Hfs*107, M442Hfs*65, N351Kfs*20, V337Gfs*21, H411Pfs*96, D335Vfs*35, T332Rfs*34, I361Rfs*11 및 A313Sfs*39로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 삽입(frame shift insert) 돌연변이;A441Hfs*44, D335Gfs*17, R330Efs*22, H434Pfs*42, S426Yfs*50, P408Afs*99, D335Gfs*17, P408Afs*99, G431Wfs*76, H434Pfs*73, D335Gfs*81, S426AIf 99, S436Lfs*71, G334Wfs*18, C320Lfs*32, S237Qfs*66, S237Qfs*66, S401Vfs*106, S413Qfs*94, P435Tfs*41, M422Dfs*85, V47Gfs*6, *444Lfs*63, A441Rfs*66 , N331Efs*21, S401Ffs*106, S426Afs*82, G314Rfs*38, H405Efs*103, N319Efs*33, T315Kfs*37, R330Nfs*24, H434Tfs*42, R69Qfs*234, C338Lfs*14, R330E4 *90, M356Nfs*15, T440Sfs*68, A332Cfs*20, T332Dfs*30, Y344Sfs*12, N333Kfs*19, G443Pfs*34, P419Afs*88, F430Lfs*77, S402Pfs*3, P435Rfs*42, M422Dfs*85 , S404Hfs*107, M442Hfs*65, N351Kfs*20, V337Gfs*21, H411Pfs*96, D335Vfs*35, T332Rfs*34, I361Rfs*11 and A313Sfs*39. shift insert) mutation;
    T221delinsPACCELLYVPYVL인 인프레임 삽입(inframe insert) 돌연변이;an inframe insert mutation that is T221delinsPACCELLYVPYVL;
    K358del, Y345del 및 M356_K387del로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 결실(inframe delete) 돌연변이;at least one inframe delete mutation selected from the group consisting of K358del, Y345del and M356_K387del;
    X349_splice 및 X350_splice로 이루어진 군으로부터 선택되는 적어도 하나의 스플라이스(splice) 돌연변이; 및at least one splice mutation selected from the group consisting of X349_splice and X350_splice; and
    GATA3-intragenic 및 LOC100128811-GATA3 fusion로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.At least one fusion mutation selected from the group consisting of GATA3-intragenic and LOC100128811-GATA3 fusion.
  5. 제 1항에 있어서, The method of claim 1,
    상기 H3F3B를 암호화하는 유전자의 돌연변이는 서열번호 4가 암호화하는 아미노산 서열에서 하기 돌연변이로 이루어진 군에서 선택된 하나 이상인 것을 특징으로 하는, 마커 조성물:The mutation of the gene encoding H3F3B is characterized in that at least one selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 4, a marker composition:
    E106K, V47G, D78N, F105L, D107N, E106K, G13R, K5M, R3G, E98K, S32C, Q69K, R18L, A25V, R9S, Q6P, I78T 및 Q6H로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;at least one missense mutation selected from the group consisting of E106K, V47G, D78N, F105L, D107N, E106K, G13R, K5M, R3G, E98K, S32C, Q69K, R18L, A25V, R9S, Q6P, I78T and Q6H;
    E60*, E98* 및 R50*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of E60*, E98* and R50*;
    R135Sfs*12, F105Kfs*33 및 A2Pfs*35로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;at least one frame shift delete mutation selected from the group consisting of R135Sfs*12, F105Kfs*33 and A2Pfs*35;
    Q94Afs*4인 프레임 시프트 삽입(frame shift insert) 돌연변이; 및Q94Afs*4, a frame shift insert mutation; and
    X37_splice인 스플라이스(splice) 돌연변이.A splice mutation that is X37_splice.
  6. 상기 MYD88를 암호화하는 유전자의 돌연변이는 서열번호 5가 암호화하는 아미노산 서열에서 하기 돌연변이로 이루어진 군에서 선택된 하나 이상인 것을 특징으로 하는, 마커 조성물:The mutation of the gene encoding MYD88 is characterized in that at least one selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 5, a marker composition:
    K275T, L265P, E139K, S243N, S219C, R301C, R5C, A13V, D184N, M67V, V27A, D288N, P19S, E70K, R301H, S296C, T84A, Y240C, P292T, I130M, T61I, G96D, Q262E, P83S, P11L, P9L, R41P, R94H 및 K271T로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;K275T, L265P, E139K, S243N, S219C, R301C, R5C, A13V, D184N, M67V, V27A, D288N, P19S, E70K, R301H, S296C, T84A, Y240C, P292T, I130M, T61I, G96D, Q262E, P83S, P11L, P83S at least one missense mutation selected from the group consisting of P9L, R41P, R94H and K271T;
    Q159*, Q189* 및 E172*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of Q159*, Q189* and E172*;
    R101Afs*19인 프레임 시프트 결실(frame shift delete) 돌연변이;a frame shift delete mutation that is R101Afs*19;
    X228_splice인 스플라이스(splice) 돌연변이; 및a splice mutation that is X228_splice; and
    MYD88-ACAA1 fusion, MYD88-CTDSPL fusion, OXSR1-MYD88 fusion 및 MYD88-VILL fusion로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.At least one fusion mutation selected from the group consisting of MYD88-ACAA1 fusion, MYD88-CTDSPL fusion, OXSR1-MYD88 fusion and MYD88-VILL fusion.
  7. 제 1항에 있어서,The method of claim 1,
    상기 고형암은 방광암(Bladder cancer), 대장암(Colon cancer), 위암(Stomach cancer), 폐암(Lung cancer), 폐선암(Lung adenocarcinoma), 유방침습성유관암종(Breast invasive ductal carcinoma), 결장선암(Colon adenocarcinoma), 전립선선암(Prostate adenocarcinoma), 방광요로피암종(Bladder urothelial carcinoma), 폐편평세포암종(Lung squamous cell carcinoma), 피부흑색종(Cutaneous melanoma), 원발부위불명암(Cancer of unknown primary), 췌장도관선암종(Pancreatic adenocarcinoma), 교모세포종(Glioblastoma multiforme), 대장선암(Colorectal adenocarcinoma), 고등급장액성난소암(High grade serous ovarian cancer), 위선암(Stomach adenocarcinoma), 신세포암종(Renal clear cell carcinoma), 식도암(Esophageal adenocarcinoma), 고환암(Testicular cancer) 및 간내담관암(Intrahepatic cholangiocarcinoma)으로 이루어진 군에서 선택되는 것을 특징으로 하는, 마커 조성물.The solid cancer is bladder cancer, colon cancer, stomach cancer, lung cancer, lung adenocarcinoma, breast invasive ductal carcinoma (Breast invasive ductal carcinoma), colon adenocarcinoma (Colon) adenocarcinoma, Prostate adenocarcinoma, Bladder urothelial carcinoma, Lung squamous cell carcinoma, Cutaneous melanoma, Cancer of unknown primary, Pancreatic adenocarcinoma, Glioblastoma multiforme, Colorectal adenocarcinoma, High grade serous ovarian cancer, Stomach adenocarcinoma, Renal clear cell carcinoma , Esophageal adenocarcinoma, testicular cancer, and intrahepatic cholangiocarcinoma, characterized in that selected from the group consisting of, the marker composition.
  8. 제 1항에 있어서,The method of claim 1,
    상기 고형암은 전이성 고형암인 것을 특징으로 하는, 마커 조성물.The solid cancer is characterized in that the metastatic solid cancer, marker composition.
  9. CREBBP(CREB Binding Protein), ESR1(Estrogen Receptor 1), GATA3(GATA Binding Protein 3), H3F3B(H3.3 Histone B) 및 MYD88(MYD88 Innate Immune Signal Transduction Adaptor)로 이루어진 군으로부터 선택되는 하나 이상을 암호화하는 유전자의 돌연변이를 검출할 수 있는 제제를 포함하는, 고형암 환자의 전이기간에 따른 치료 효과 예측 또는 예후 진단용 조성물.Encodes at least one selected from the group consisting of CREBBP (CREB Binding Protein), ESR1 (Estrogen Receptor 1), GATA3 (GATA Binding Protein 3), H3F3B (H3.3 Histone B) and MYD88 (MYD88 Innate Immune Signal Transduction Adapter) A composition for predicting treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient, comprising an agent capable of detecting a mutation in a gene.
  10. 제 9항에 있어서,10. The method of claim 9,
    상기 CREBBP를 암호화하는 유전자의 돌연변이는 서열번호 1이 암호화하는 아미노산 서열에서 하기 돌연변이로 이루어진 군에서 선택된 하나 이상인 것을 특징으로 하는, 조성물:The mutation of the gene encoding CREBBP is characterized in that at least one selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 1, composition:
    Y2189S, Q1756E, S2394F, L829F, S977L, A259T, R1328M, G587R, R672L, T345I, Y1622H, D1480N, P988S, P1096A, R351H, G689R, A2265V, Q662H, R1446C, R1446H, W1502C, Y1450D, D1435G, W1472R, Y1503H, R1446S, L1499Q, D1435N, R1446P, Y1450N, Y1482C, W1502R, Y1482N, Y1482D, L1499R, W1502C, W1472G, W1502L, I1431S, R1446C, I1431N, Y1503N, V1802M, S1778L, T396K, A1782V, E1550Q, S2372L, T1688M, R2104C, R1664C, T1260M, T950M, C1408Y, R424Q, R625H, R1081H, R601Q, P248L, M1798I, S1072F, P949L, A1824T, R1682H, R1428C, A206V, Y1167C, A2144V, V1650I, A259T, V1634M, T872M, R1427W, S1136Y, D1481N, E1243D, F1439L, R1319Q, R714C, E1012K, R1347W, D1481G, D1273N, A1944P, K1809R, E1247K, P2038L, G706R, P766L, P928S, R1800Q, V1371F, R714H, S945L, A557T, R669W, R1392Q, S71L, S32L, G896R, R1602H, R519K, C1240Y, N645K, P107L, Y1973H, N2141K, S554F, R742L, Q963H, T862M, G21D, A698V, A533T, G2010E, A1510V, P907S, R1851H, Q2292R, Q249H, R1498Q, N530S, S1923R, G1145W, K1139T, R1866C, P2285H, A1398V, M2192I, T1932M, Q1698L, G1699D, E1020G, N522S, P1889L, H2178Y, P2011S, I1455N, S2065N, K1269N, Q1928H, A259S, R2353W, Y1828C, N797K, P496L, R1378L, S791T, G1404S, Q1941L, T959A, S2076L, H1451R, Q887K, L1211S, R1800L, V992L, I678M, G252C, H1470L, Q1113H, Q102R, D2433G, E1099K, T1210A, L869F, T537P, V460F, E2404K, A787V, M1021I, P552L, L833V, E637K, P2331S, V89M, A2066T, R1964C, E1000K, D1156N, T1902M, S767Y, E1459Q, E1452K, N374I, Q1879E, G2162R, E1400Q, F1540S, S893W, E1501K, H1351D, S479I, H1485Y, D1276H, Q2299K, E1626Q, T320I, Q1152E, S2377L, K1271R, R1960Q, E1528K, Y1433H, L1329R, A2392T, A2419V, Y1125H, S1207F, E1088K, R1317K, V2149M, S139N, P975S, G1305D, R624C, T4668S, P1953S, S247F, S2361F, T1242S, V1429M, L33F, D1543V, S566F, R1341P, P2383L, S2372W, D2282H, Y1433N, P704L, L2198Q, S554F, P2352L, P2415L, G219V, P1489T, QP1257HS, P1488L, E548K, D1309N, V1371D, E1400K, E1576D, A1739V, Q610H, L161M, W1545L, C1199F, H2384R, E1963D, V2002M, Q786P, Q887E, G822A, P528L, A924T, L1181R, F22L, V1818M, P432S, Q2103K, V1704F, E371Q, D1420A, P2331L, R2195K, P1110L, V824M, D599N, G268R, P2187L, P2155S, S2345F, E996K, G591S, A2046V, Q2324K, M2391I, V1429A, G2132V, G57E, R1441Q, P173L, T586I, Q842H, P248S, P308S, S1030F, P957A, S646N, R1985L, G1418V, M481V, P543L, P2311L, A2170T, A924V, E1715K, D1263N, P1997L, P1951L, R1173G, P1991L, E1285K, G1374E, S2322L, L353V, G2306V, H1712Y, L2171F, M1625N, P1208S, H1738N, M1981I, Q1863R, L679F, W1745C, G2236E, G1753V, A1093V, V2056M, A476T, H1413P, V1722E, A924S, R1866L, R1926W, F1632V, A1870P, C398Y, L2254F, E2191K, K1269N, R218T, G214V, S121I, G1411R, N1350I, T1332P, P1488T, D1480H 및 I1483S로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;Y2189S, Q1756E, S2394F, L829F, S977L, A259T, R1328M, G587R, R672L, T345I, Y1622H, D1480N, P988S, P1096A, R351H, G689R, A2265V, Q662H, R1446C, R1446H, W1472R W Y Y, R1446H, W1472R R1446S, L1499Q, D1435N, R1446P, Y1450N, Y1482C, W1502R, Y1482N, Y1482D, L1499R, W1502C, W1472G, W1502L, I1431S, R1446C, I1431N, Y1503N, V1802M, T396K1778L, R1782V, E5503N, V1802M, T396K1778L, R1782V R1664C, T1260M, T950M, C1408Y, R424Q, R625H, R1081H, R601Q, P248L, M1798I, S1072F, P949L, A1824T, R1682H, R1428C, A206V, Y1167C, A2144V, V1650I, A2591, S136M, R1427W16341, T872, V E1243D, F1439L, R1319Q, R714C, E1012K, R1347W, D1481G, D1273N, A1944P, K1809R, E1247K, P2038L, G706R, P766L, P928S, R1800Q, V1371F, R714H, S945L, S1392Q, S945L, S32557T, R669W, R32557T R1602H, R519K, C1240Y, N645K, P107L, Y1973H, N2141K, S554F, R742L, Q963H, T862M, G21D, A698V, A533T, G2010E, A1510V, P907S, R1851H, Q2292R, Q11249H, K1498Q, N530S, K1498Q, N530S R1866C, P2285H, A1398V, M2192I, T1932M, Q1698L, G1699D, E1020G, N522S, P1889L, H2178Y, P2011S, I1455N, S2065N, K1269N, Q1928H, A259S, R2353W, Y1828C, N797K, P496L, R1378L, S791T, G1404S, Q1941L, L1451211S, Q1941L, L1451211R, S2065N, L1451211R, S2065N, K1269N, Q1928H, A259S V992L, I678M, G252C, H1470L, Q1113H, Q102R, D2433G, E1099K, T1210A, L869F, T537P, V460F, E2404K, A787V, M1021I, P552L, L833V, E637K, P2331S, D1156M, T2066T, R1964C, A190 S767Y, E1459Q, E1452K, N374I, Q1879E, G2162R, E1400Q, F1540S, S893W, E1501K, H1351D, S479I, H1485Y, D1276H, Q2299K, E1626Q, T320I, Q1152E, S2377L, K1271T, R1433H, L1271T, R1433H, K1271T, R, A2419V, Y1125H, S1207F, E1088K, R1317K, V2149M, S139N, P975S, G1305D, R624C, T4668S, P1953S, S247F, S2361F, T1242S, V1429M, L33F, D1543V, S566F, R1341P, P2383L, S237704 L2198Q, S554F, P2352L, P2415L, G219V, P1489T, QP1257HS, P1488L, E548K, D1309N, V1371D, E1400K, E1576D, A1739V, Q610H, L161M, W1545L, C1199F, H2384R, G786P, H2384R, E5281963D A924T, L1181R, F22L, V1818M, P432S, Q21 03K, V1704F, E371Q, D1420A, P2331L, R2195K, P1110L, V824M, D599N, G268R, P2187L, P2155S, S2345F, E996K, G591S, A2046V, Q2324K, M2391I, V1429A, G2132V, P1429A, G2132V P248S, P308S, S1030F, P957A, S646N, R1985L, G1418V, M481V, P543L, P2311L, A2170T, A924V, E1715K, D1263N, P1997L, P1951L, R1173G, P1991L, H17E12Y, S232V2L, H17E12Y2, L232V21374 M1625N, P1208S, H1738N, M1981I, Q1863R, L679F, W1745C, G2236E, G1753V, A1093V, V2056M, A476T, H1413P, V1722E, A924S, R1866L, R1926W, F1632V, K1870P, C398Y, G1870N, C398Y at least one missense mutation selected from the group consisting of S121I, G1411R, N1350I, T1332P, P1488T, D1480H and I1483S;
    G572*, Q771*, Q497*, R1360*, R1173*, Q1073*, Q1796*, R1498*, R1103*, R1341*, Q1756*, Q887*, Q1856*, S985*, E349*, R1672*, Q1928*, Y1230*, S1065*, Q2235*, Y1726*, R440*, Y659*, E1243*, Q719*, E1205*, R1392*, R386*, L243*, Q540*, R424*, Q517*, E1000*, Q1148*, S547*, Q357*, R370*, E1626*, S381*, Q2103*, S331*, Q1852*, Y1828*, K68*, Q963*, Q356*, R2004*, E1559*, Q203*, Q919*, K1051*, Q1041*, Q1941*, Y1460*, S1030_K1033delins* 및 W1158*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;G572*, Q771*, Q497*, R1360*, R1173*, Q1073*, Q1796*, R1498*, R1103*, R1341*, Q1756*, Q887*, Q1856*, S985*, E349*, R1672*, Q1928* , Y1230*, S1065*, Q2235*, Y1726*, R440*, Y659*, E1243*, Q719*, E1205*, R1392*, R386*, L243*, Q540*, R424*, Q517*, E1000*, Q1148 *, S547*, Q357*, R370*, E1626*, S381*, Q2103*, S331*, Q1852*, Y1828*, K68*, Q963*, Q356*, R2004*, E1559*, Q203*, Q919*, at least one nonsense mutation selected from the group consisting of K1051*, Q1041*, Q1941*, Y1460*, S1030_K1033delins* and W1158*;
    I1084Sfs*15, P1946Hfs*30, F1523Sfs*27, H2384Tfs*12, T1574Pfs*61, S801Qfs*29, L524Wfs*6, Q232Rfs*12, P1423Lfs*36, S1065*, P928Rfs*70, L545Ffs*16, N1612Tfs*23, S893Pfs*27, S1382Yfs*2, L243*, H408Ifs*26, C1444Hfs*6, K1505Rfs*45, E1054Dfs*4, G1815Pfs*149, E72Afs*10, V2012Sfs*28, N2181Kfs*5, E371Kfs*53, Y659Tfs*7, E1061Rfs*4, K1051Rfs*5, V1057*, L1692Rfs*50, C1178Afs*72, G587Kfs*19, C1311*, M784Ifs*17, T163Afs*13, I1493Yfs*57, E594Dfs*11, C1783Afs*16 및 I1189Lfs*61로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;I1084Sfs*15, P1946Hfs*30, F1523Sfs*27, H2384Tfs*12, T1574Pfs*61, S801Qfs*29, L524Wfs*6, Q232Rfs*12, P1423Lfs*36, S1065*, P928Rfs*2316, L516F , S893Pfs*27, S1382Yfs*2, L243*, H408Ifs*26, C1444Hfs*6, K1505Rfs*45, E1054Dfs*4, G1815Pfs*149, E72Afs*10, V2012Sfs*28, N2181Kfs*5, E371Kfs*53, E371Kfs*53 7, E1061Rfs*4, K1051Rfs*5, V1057*, L1692Rfs*50, C1178Afs*72, G587Kfs*19, C1311*, M784Ifs*17, T163Afs*13, I1493Yfs*57, E594Dfs*11, C1783Afs*16, and I1783Afs*16 at least one frame shift delete mutation selected from the group consisting of 61;
    L1346Ffs*8, I1084Nfs*3, Q1209Tfs*25, P1947Tfs*19, S1172Qfs*7, P2077Afs*264, H397Afs*30, S1737Rfs*8, G77Afs*9 및 S1598Kfs*19로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 삽입(frame shift insert) 돌연변이;At least one frame shift selected from the group consisting of L1346Ffs*8, I1084Nfs*3, Q1209Tfs*25, P1947Tfs*19, S1172Qfs*7, P2077Afs*264, H397Afs*30, S1737Rfs*8, G77Afs*9 and S1598Kfs*19. frame shift insert mutation;
    M2115_G2120dup인 인프레임 삽입(inframe insert) 돌연변이;M2115_G2120dup, an inframe insert mutation;
    S1680del K1588del 및 Q2216del로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 결실(inframe delete) 돌연변이;at least one inframe delete mutation selected from the group consisting of S1680del K1588del and Q2216del;
    X1203_splice, X1305_splice, X406_splice, X1021_splice, X1427_splice, X961_splice, X1465_splice, X1084_splice, X29_splice, X705_splice, X1378_splice, X406_splice, X1305_splice, X1576_splice, X266_splice, X525_splice 및 X406_splice X1465_splice로 이루어진 군으로부터 선택되는 적어도 하나의 적어도 하나의 스플라이스(splice) 돌연변이; 및X1203_splice, X1305_splice, X406_splice, X1021_splice, X1427_splice, X961_splice, X1465_splice, X1084_splice, X29_splice, X705_splice, X1378_splice, X406_splice, X1305_splice, X1576_splice, X266_splice, X525_splice 및 X406_splice X1465_splice로 이루어진 군으로부터 선택되는 적어도 하나의 적어도 하나의 스플라이스(splice ) mutations; and
    CREBBP-CRAMP1L fusion, CREBP-NARFL fusion, TRAP1-CREBBP fusion, CREBBP-intragenic, CREBBP-TRAP1 fusion, CREBBP-TIGD7 fusion, TSG1-CREBBP fusion, CREBBP-SRRM2 fusion, CREBBP-TBL3 fusion 및 CREBBP-DNASE1 fusion로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.CREBBP-CRAMP1L fusion, CREBP-NARFL fusion, TRAP1-CREBBP fusion, CREBBP-intragenic, CREBBP-TRAP1 fusion, CREBBP-TIGD7 fusion, TSG1-CREBBP fusion, CREBBP-SRRM2 fusion, CREBBP-TBL3 fusion and CREBBP-DNASE1 fusion consisting of at least one fusion mutation selected from the group.
  11. 제 9항에 있어서,10. The method of claim 9,
    상기 ESR1를 암호화하는 유전자의 돌연변이는 서열번호 2가 암호화하는 하기 돌연변이로 이루어진 군에서 선택된 하나 이상인 것을 특징으로 하는, 마커 조성물:The mutation of the gene encoding ESR1 is characterized in that at least one selected from the group consisting of the following mutations encoded by SEQ ID NO: 2, a marker composition:
    S554N, D538G, N290K, Y537S, D538G, S433P, G77D, P38L, Y537C, Y537N, D538G, E380Q, L536Q, L536R, Y537S, S463P, L536H, L536P, Y537D, S463P, R211I, R548C, S341L, T311M, V533M, V392I, D218N, Q159L, R37L, R243C, R394H, R477Q, R28H, R243H, A361V, E56K, E330K, L370F, H488Y, N519S, T585M, T228A, Q506H, R259Q, M109T, A350E, R269H, S576L, A87T, S294R, D564Y, A307P, L410S, Y54C, K206T, L26M, G57C, C237Y, P113L, Q314K, R158C, R157Q, E203V, S338R, D369Y, A65V, D258Y, K32Q, A361E, A361T, R269C, G344D, P333T, R548H, V478L, A207T, P25T, D374Y, N532K, S432L, A546D, E542G, V534E, G442R, V418E, F461V, L466Q, G442R, S329Y, Y80H, G160D, M421V, K252N, L540Q, L403R, T224I, E385D, R277S, R151K, G590S, L117Q, M437I, G57S, G284E, D564N, N304H, H398P, R193G, K48N, P324S, A593V, A288T, T4A, R211S, R260K, L15V, K449R, P325S, R363K, E470K, P147Q, V478I 및 R183C로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;S554N, D538G, N290K, Y537S, D538G, S433P, G77D, P38L, Y537C, Y537N, D538G, E380Q, L536Q, L536R, Y537S, S463P, L536H, L536P, Y537D, S463P, V2153I, R463P, V V392I, D218N, Q159L, R37L, R243C, R394H, R477Q, R28H, R243H, A361V, E56K, E330K, L370F, H488Y, N519S, T585M, T228A, Q506H, R259Q, M109T, A350E, R269H, S576R, A269H, S576R D564Y, A307P, L410S, Y54C, K206T, L26M, G57C, C237Y, P113L, Q314K, R158C, R157Q, E203V, S338R, D369Y, A65V, D258Y, K32Q, A361E, A361T, R269C, G344D, P333T, R548H, V4 A207T, P25T, D374Y, N532K, S432L, A546D, E542G, V534E, G442R, V418E, F461V, L466Q, G442R, S329Y, Y80H, G160D, M421V, K252N, L540Q, L403R, R277S, E385D, T224I, G L117Q, M437I, G57S, G284E, D564N, N304H, H398P, R193G, K48N, P324S, A593V, A288T, T4A, R211S, R260K, L15V, K4349R, P325S, R363K, E470K, P147Q, V478I and R18349C at least one missense mutation;
    Y60*, C245*, E444*, R256* 및 K401*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of Y60*, C245*, E444*, R256* and K401*;
    L536Qfs*2, P99Hfs*10, I326Yfs*17, P99Hfs*10, G96Vfs*13 및 *594fs*로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;at least one frame shift delete mutation selected from the group consisting of L536Qfs*2, P99Hfs*10, I326Yfs*17, P99Hfs*10, G96Vfs*13 and *594fs*;
    L100Tfs*57, G521Rfs*18 및 E275Gfs*5로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 삽입(frame shift insert) 돌연변이;at least one frame shift insert mutation selected from the group consisting of L100Tfs*57, G521Rfs*18 and E275Gfs*5;
    D538_L539insHD 및 Q500dup로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 삽입(inframe insert) 돌연변이;at least one inframe insert mutation selected from the group consisting of D538_L539insHD and Q500dup;
    V422del 및 Y328_S329del로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 결실(inframe delete) 돌연변이; 및at least one inframe delete mutation selected from the group consisting of V422del and Y328_S329del; and
    TACR1-ESR1 fusion, ESR1-NCOA3 fusion 및 ESR1-C6orf97 fusion 로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.At least one fusion mutation selected from the group consisting of TACR1-ESR1 fusion, ESR1-NCOA3 fusion and ESR1-C6orf97 fusion.
  12. 제 9항에 있어서,10. The method of claim 9,
    상기 GATA3를 암호화하는 유전자의 돌연변이는 서열번호 3이 암호화하는 하기 돌연변이로 이루어진 군에서 선택된 하나 이상인 것을 특징으로 하는, 마커 조성물:The mutation of the gene encoding GATA3 is characterized in that at least one selected from the group consisting of the following mutations encoded by SEQ ID NO: 3, a marker composition:
    N331I, S175W, Y229H, C266S, M293K, R364S, R364G, R364T, R298W, P421L, M356V, G248R, E359K, T420M, S118F, T418M, S407L, A146T, S137L, G100S, P223L, G128W, S426F, R305Q, E262V, L347R, R366Q, R305L, P148L, S142L, S402F, P158L, P425I, R9H, H281R, V132I, S369Y, P148T, K387N, G342W, T279M, L347I, S172L, L114I, S213L, A286T, P163Q, G241F, R311S, P95L, K358N, K292E, P98T, S82R, G232R, S82I, G143E, C287F, R275W, R9C, S93F, M356I, V337D, S121F, C183R, G278D, Q296K, L190P, S370R, A173T, L130H, S175L, S372F, P134S, S397Y, G99S, S243Y, A310T, Q362R, N285K, D6H, A207D, P111S, S389I, G55C, S238R, W328C, T215I, H13R, L428Q, S139F, P424S, P111H, T108I, P299L, S230N, A441D, T71M, D335E, D335Y, A176G, P135T 및 P95H로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;N331I, S175W, Y229H, C266S, M293K, R364S, R364G, R364T, R298W, P421L, M356V, G248R, E359K, T420M, S118F, T418M, S407L, A146T, S137L, G100S, P223L, G128W, S4 L347R, R366Q, R305L, P148L, S142L, S402F, P158L, P425I, R9H, H281R, V132I, S369Y, P148T, K387N, G342W, T279M, L347I, S172L, L114I, S213L, A286T, P163Q, G241F, R311S, P148T K358N, K292E, P98T, S82R, G232R, S82I, G143E, C287F, R275W, R9C, S93F, M356I, V337D, S121F, C183R, G278D, Q296K, L190P, S370R, A173T, L130H, S175L, S372F, P134S, S372F, P134S, S397Y G99S, S243Y, A310T, Q362R, N285K, D6H, A207D, P111S, S389I, G55C, S238R, W328C, T215I, H13R, L428Q, S139F, P424S, P111H, T108I, P299L, S230N, A441D, T71M, D335E, T335M at least one missense mutation selected from the group consisting of A176G, P135T and P95H;
    Q73*, R366*, R390*, K377* 및 S381*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of Q73*, R366*, R390*, K377* and S381*;
    E359Afs*44, S407Afs*99, S237Afs*28, V378Cfs*26, P135Rfs*60, D335Pfs*16, P408Lfs*98, R329Gfs*17, G246Afs*19, L396Qfs*109, H123Pfs*69, A394Lfs*110, S436Pfs*39, P408Qfs*97, T418Afs*86, P432Tfs*74, G443Vfs*32, P408Qfs*97, M438Wfs*37, T355Qfs*97, F430Sfs*38, G431Tfs*41, T355*, L416Pfs*83, S437Rfs*38, L396Hfs*107, S390Rfs*112, A441Pfs*34, P424Rfs*51, K387Rfs*17, C320Wfs*18, R330Mfs*20, N331Gfs*17 및 C284Afs*10로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;E359Afs*44, S407Afs*99, S237Afs*28, V378Cfs*26, P135Rfs*60, D335Pfs*16, P408Lfs*98, R329Gfs*17, G246Afs*19, L396Qfs*109, H123Pfs*69, A394436Pfs*110, A394436Pfs* 39, P408Qfs*97, T418Afs*86, P432Tfs*74, G443Vfs*32, P408Qfs*97, M438Wfs*37, T355Qfs*97, F430Sfs*38, G431Tfs*41, T355*, L416Pfs*83, S437Rfs*38, L396RfsHfs At least one frame shift delete selected from the group consisting of *107, S390Rfs*112, A441Pfs*34, P424Rfs*51, K387Rfs*17, C320Wfs*18, R330Mfs*20, N331Gfs*17 and C284Afs*10. ) mutations;
    A441Hfs*44, D335Gfs*17, R330Efs*22, H434Pfs*42, S426Yfs*50, P408Afs*99, D335Gfs*17, P408Afs*99, G431Wfs*76, H434Pfs*73, D335Gfs*21, S426Ifs*81, P408Afs*99, S436Lfs*71, G334Wfs*18, C320Lfs*32, S237Qfs*66, S237Qfs*66, S401Vfs*106, S413Qfs*94, P435Tfs*41, M422Dfs*85, V47Gfs*6, *444Lfs*63, A441Rfs*66, N331Efs*21, S401Ffs*106, S426Afs*82, G314Rfs*38, H405Efs*103, N319Efs*33, T315Kfs*37, R330Nfs*24, H434Tfs*42, R69Qfs*234, C338Lfs*14, R330Efs*22, T417Dfs*90, M356Nfs*15, T440Sfs*68, A332Cfs*20, T332Dfs*30, Y344Sfs*12, N333Kfs*19, G443Pfs*34, P419Afs*88, F430Lfs*77, S402Pfs*3, P435Rfs*42, M422Dfs*85, S404Hfs*107, M442Hfs*65, N351Kfs*20, V337Gfs*21, H411Pfs*96, D335Vfs*35, T332Rfs*34, I361Rfs*11 및 A313Sfs*39로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 삽입(frame shift insert) 돌연변이;A441Hfs*44, D335Gfs*17, R330Efs*22, H434Pfs*42, S426Yfs*50, P408Afs*99, D335Gfs*17, P408Afs*99, G431Wfs*76, H434Pfs*73, D335Gfs*81, S426AIf 99, S436Lfs*71, G334Wfs*18, C320Lfs*32, S237Qfs*66, S237Qfs*66, S401Vfs*106, S413Qfs*94, P435Tfs*41, M422Dfs*85, V47Gfs*6, *444Lfs*63, A441Rfs*66 , N331Efs*21, S401Ffs*106, S426Afs*82, G314Rfs*38, H405Efs*103, N319Efs*33, T315Kfs*37, R330Nfs*24, H434Tfs*42, R69Qfs*234, C338Lfs*14, R330E4 *90, M356Nfs*15, T440Sfs*68, A332Cfs*20, T332Dfs*30, Y344Sfs*12, N333Kfs*19, G443Pfs*34, P419Afs*88, F430Lfs*77, S402Pfs*3, P435Rfs*42, M422Dfs*85 , S404Hfs*107, M442Hfs*65, N351Kfs*20, V337Gfs*21, H411Pfs*96, D335Vfs*35, T332Rfs*34, I361Rfs*11 and A313Sfs*39. shift insert) mutation;
    T221delinsPACCELLYVPYVL인 인프레임 삽입(inframe insert) 돌연변이;an inframe insert mutation that is T221delinsPACCELLYVPYVL;
    K358del, Y345del 및 M356_K387del로 이루어진 군으로부터 선택되는 적어도 하나의 인프레임 결실(inframe delete) 돌연변이;at least one inframe delete mutation selected from the group consisting of K358del, Y345del and M356_K387del;
    X349_splice 및 X350_splice로 이루어진 군으로부터 선택되는 적어도 하나의 스플라이스(splice) 돌연변이; 및at least one splice mutation selected from the group consisting of X349_splice and X350_splice; and
    GATA3-intragenic 및 LOC100128811-GATA3 fusion로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.At least one fusion mutation selected from the group consisting of GATA3-intragenic and LOC100128811-GATA3 fusion.
  13. 제 9항에 있어서,10. The method of claim 9,
    상기 H3F3B를 암호화하는 유전자의 돌연변이는 서열번호 4가 암호화하는 하기 돌연변이로 이루어진 군에서 선택된 하나 이상인 것을 특징으로 하는, 마커 조성물:The mutation of the gene encoding H3F3B is characterized in that at least one selected from the group consisting of the following mutations encoded by SEQ ID NO: 4, a marker composition:
    E106K, V47G, D78N, F105L, D107N, E106K, G13R, K5M, R3G, E98K, S32C, Q69K, R18L, A25V, R9S, Q6P, I78T 및 Q6H로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;at least one missense mutation selected from the group consisting of E106K, V47G, D78N, F105L, D107N, E106K, G13R, K5M, R3G, E98K, S32C, Q69K, R18L, A25V, R9S, Q6P, I78T and Q6H;
    E60*, E98* 및 R50*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of E60*, E98* and R50*;
    R135Sfs*12, F105Kfs*33 및 A2Pfs*35로 이루어진 군으로부터 선택되는 적어도 하나의 프레임 시프트 결실(frame shift delete) 돌연변이;at least one frame shift delete mutation selected from the group consisting of R135Sfs*12, F105Kfs*33 and A2Pfs*35;
    Q94Afs*4인 프레임 시프트 삽입(frame shift insert) 돌연변이; 및Q94Afs*4, a frame shift insert mutation; and
    X37_splice인 스플라이스(splice) 돌연변이.A splice mutation that is X37_splice.
  14. 상기 MYD88를 암호화하는 유전자의 돌연변이는 서열번호 5가 암호화하는 아미노산 서열에서 하기 돌연변이로 이루어진 군에서 선택된 하나 이상인 것을 특징으로 하는, 마커 조성물:The mutation of the gene encoding MYD88 is characterized in that at least one selected from the group consisting of the following mutations in the amino acid sequence encoded by SEQ ID NO: 5, a marker composition:
    K275T, L265P, E139K, S243N, S219C, R301C, R5C, A13V, D184N, M67V, V27A, D288N, P19S, E70K, R301H, S296C, T84A, Y240C, P292T, I130M, T61I, G96D, Q262E, P83S, P11L, P9L, R41P, R94H 및 K271T로 이루어진 군으로부터 선택되는 적어도 하나의 미스센스 돌연변이;K275T, L265P, E139K, S243N, S219C, R301C, R5C, A13V, D184N, M67V, V27A, D288N, P19S, E70K, R301H, S296C, T84A, Y240C, P292T, I130M, T61I, G96D, Q262E, P83S, P11L, P83S at least one missense mutation selected from the group consisting of P9L, R41P, R94H and K271T;
    Q159*, Q189* 및 E172*로 이루어진 군으로부터 선택되는 적어도 하나의 넌센스 돌연변이;at least one nonsense mutation selected from the group consisting of Q159*, Q189* and E172*;
    R101Afs*19인 프레임 시프트 결실(frame shift delete) 돌연변이;a frame shift delete mutation that is R101Afs*19;
    X228_splice인 스플라이스(splice) 돌연변이; 및a splice mutation that is X228_splice; and
    MYD88-ACAA1 fusion, MYD88-CTDSPL fusion, OXSR1-MYD88 fusion 및 MYD88-VILL fusion로 이루어진 군으로부터 선택되는 적어도 하나의 퓨전(fusion) 돌연변이.At least one fusion mutation selected from the group consisting of MYD88-ACAA1 fusion, MYD88-CTDSPL fusion, OXSR1-MYD88 fusion and MYD88-VILL fusion.
  15. 제 9항에 있어서,10. The method of claim 9,
    상기 고형암은 방광암(Bladder cancer), 대장암(Colon cancer), 위암(Stomach cancer), 폐암(Lung cancer), 폐선암(Lung adenocarcinoma), 유방침습성유관암종(Breast invasive ductal carcinoma), 결장선암(Colon adenocarcinoma), 전립선선암(Prostate adenocarcinoma), 방광요로피암종(Bladder urothelial carcinoma), 폐편평세포암종(Lung squamous cell carcinoma), 피부흑색종(Cutaneous melanoma), 원발부위불명암(Cancer of unknown primary), 췌장도관선암종(Pancreatic adenocarcinoma), 교모세포종(Glioblastoma multiforme), 대장선암(Colorectal adenocarcinoma), 고등급장액성난소암(High grade serous ovarian cancer), 위선암(Stomach adenocarcinoma), 신세포암종(Renal clear cell carcinoma), 식도암(Esophageal adenocarcinoma), 고환암(Testicular cancer) 및 간내담관암(Intrahepatic cholangiocarcinoma)으로 이루어진 군에서 선택되는 것을 특징으로 하는, 조성물The solid cancer is bladder cancer, colon cancer, stomach cancer, lung cancer, lung adenocarcinoma, breast invasive ductal carcinoma (Breast invasive ductal carcinoma), colon adenocarcinoma (Colon) adenocarcinoma, Prostate adenocarcinoma, Bladder urothelial carcinoma, Lung squamous cell carcinoma, Cutaneous melanoma, Cancer of unknown primary, Pancreatic adenocarcinoma, Glioblastoma multiforme, Colorectal adenocarcinoma, High grade serous ovarian cancer, Stomach adenocarcinoma, Renal clear cell carcinoma , Esophageal adenocarcinoma, testicular cancer, and intrahepatic cholangiocarcinoma, characterized in that selected from the group consisting of, the composition
  16. 제 9항에 있어서,10. The method of claim 9,
    상기 고형암은 전이성 고형암인 것을 특징으로 하는, 조성물.The composition, characterized in that the solid cancer is metastatic solid cancer.
  17. 제 9항에 있어서,10. The method of claim 9,
    상기 제제는 상기 유전자의 돌연변이에 대한 프라이머 세트, 프로브 또는 항체를 포함하는 것을 특징으로 하는, 조성물.The formulation, characterized in that it comprises a primer set, probe or antibody for the mutation of the gene, composition.
  18. 제 9항의 조성물을 포함하는, 고형암 환자의 전이기간에 따른 치료 효과 예측 또는 예후 진단용 키트.A kit for predicting treatment effect or prognosis diagnosis according to the metastasis period of a solid cancer patient, comprising the composition of claim 9.
  19. 고형암 환자의 샘플로부터 시료 DNA를 준비하는 단계;preparing sample DNA from a sample of a solid cancer patient;
    상기 시료 DNA를 청구항 18의 키트를 이용하여 증폭하는 단계; 및amplifying the sample DNA using the kit of claim 18; and
    상기 증폭 결과로부터 전이기간 특이적 마커의 유무를 확인하는 단계;를 포함하는 고형암 환자의 전이기간에 따른 고형암의 예후 진단을 위해 필요한 정보를 제공하는 방법.A method of providing information necessary for prognostic diagnosis of solid cancer according to the metastasis period of a solid cancer patient, comprising the step of confirming the presence or absence of a metastasis period-specific marker from the amplification result.
  20. 제 19항에 있어서,20. The method of claim 19,
    상기 방법은 고형암 환자의 총 생존율 또는 무병 생존율을 예측하는 방법.The method is a method of predicting the total survival rate or disease-free survival rate of a patient with solid cancer.
  21. 제 19항에 있어서,20. The method of claim 19,
    상기 고형암 환자는 CREBBP, ESR1, GATA3, H3F3B 및 MYD88를 암호화하는 유전자에서 돌연변이가 확인되고, 상기 고형암 환자의 생존율이 상기 유전자에서 돌연변이가 확인되지 않은 사람의 생존율보다 낮거나, 상기 고형암 환자의 고형암 재발율이 상기 유전자에서 돌연변이가 확인되지 않은 사람의 고형암 재발율보다 높은 것으로 판단하는 단계;를 더 포함하는 방법.The solid cancer patient has a mutation in the genes encoding CREBBP, ESR1, GATA3, H3F3B and MYD88, and the survival rate of the solid cancer patient is lower than the survival rate of a person whose mutation is not confirmed in the gene, or the solid cancer recurrence rate of the solid cancer patient The method further comprising a; determining that the mutation in the gene is higher than the solid cancer recurrence rate of the unconfirmed person.
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