KEGG VARIANT: 5979v2

VARIANT: 5979v2

Entry

5979v2                      Variant

Name

RET mutation

Type

Gain of function

Gene

RET ret proto-oncogene [KO:K05126]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutation M918T
ClinVar: 13919
dbSNP: rs74799832
COSM: 965

Variation

mutation C634F
ClinVar: 13911
dbSNP: rs75996173
COSM: 1237919

Variation

mutation A883F
ClinVar: 38629
dbSNP: rs377767429
COSM: 981

Variation

mutation V804M
ClinVar: 37102
dbSNP: rs79658334
COSM: 86004

Variation

mutation S891A
ClinVar: 13951
dbSNP: rs75234356
COSM: 9213759

Network

nt06210  ERK signaling (cancer)
nt06214  PI3K signaling (cancer)
nt06526  MAPK signaling
nt06530  PI3K signaling

Disease

H00032

Thyroid cancer

Drug target

Selpercatinib:

D11713<JP/US>

Reference

PMID:25824727

Authors

Yeganeh MZ, Sheikholeslami S, Hedayati M

Title

RET proto oncogene mutation detection and medullary thyroid carcinoma prevention.

Journal

Asian Pac J Cancer Prev 16:2107-17 (2015)
DOI:10.7314/apjcp.2015.16.6.2107

Reference

PMID:26868437

Authors

Romei C, Ciampi R, Elisei R

Title

A comprehensive overview of the role of the RET proto-oncogene in thyroid carcinoma.

Journal

Nat Rev Endocrinol 12:192-202 (2016)
DOI:10.1038/nrendo.2016.11

Reference

PMID:28506408

Authors

Accardo G, Conzo G, Esposito D, Gambardella C, Mazzella M, Castaldo F, Di Donna C, Polistena A, Avenia N, Colantuoni V, Giugliano D, Pasquali D

Title

Genetics of medullary thyroid cancer: An overview.

Journal

Int J Surg 41 Suppl 1:S2-S6 (2017)
DOI:10.1016/j.ijsu.2017.02.064

Reference

PMID:15982921

Authors

Arighi E, Borrello MG, Sariola H

Title

RET tyrosine kinase signaling in development and cancer.

Journal

Cytokine Growth Factor Rev 16:441-67 (2005)
DOI:10.1016/j.cytogfr.2005.05.010

LinkDB

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