Abstract
Scientific innovation has enabled whole exome capture and massively parallel sequencing of cancer genomes. In head and neck cancer, next-generation sequencing has granted us further understanding of the mutational spectrum of squamous cell carcinoma. As a result of these new technologies, frequently occurring mutations were identified in NOTCH1, a gene that had not previously been implicated in head and neck cancer. The current review describes the most common mutations in head and neck cancer: TP53, NOTCH1, HRAS, PIK3CA, and CDKN2A. Emphasis is placed on the involved cellular pathways, clinical correlations, and potential therapeutic interventions. Additionally, the implications of human papillomavirus on mutation patterns are discussed.
Copyright © 2012 Wiley Periodicals, Inc.
Publication types
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Research Support, N.I.H., Extramural
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Review
MeSH terms
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Carcinoma, Squamous Cell / genetics*
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Class I Phosphatidylinositol 3-Kinases
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Cyclin-Dependent Kinase Inhibitor p16 / genetics
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DNA Mutational Analysis / methods
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Genetic Predisposition to Disease / genetics*
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Head and Neck Neoplasms / genetics*
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Humans
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Mutation
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Phosphatidylinositol 3-Kinases / genetics
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Proto-Oncogene Proteins p21(ras) / genetics
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Receptor, Notch1 / genetics
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Squamous Cell Carcinoma of Head and Neck
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Tumor Suppressor Protein p53 / genetics
Substances
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Cyclin-Dependent Kinase Inhibitor p16
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NOTCH1 protein, human
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Receptor, Notch1
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TP53 protein, human
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Tumor Suppressor Protein p53
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Phosphatidylinositol 3-Kinases
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Class I Phosphatidylinositol 3-Kinases
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PIK3CA protein, human
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HRAS protein, human
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Proto-Oncogene Proteins p21(ras)