Lessons learned from next-generation sequencing in head and neck cancer

Head Neck. 2013 Mar;35(3):454-63. doi: 10.1002/hed.23100. Epub 2012 Aug 21.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Carcinoma, Squamous Cell / genetics*
  • Class I Phosphatidylinositol 3-Kinases
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics
  • DNA Mutational Analysis / methods
  • Genetic Predisposition to Disease / genetics*
  • Head and Neck Neoplasms / genetics*
  • Humans
  • Mutation
  • Phosphatidylinositol 3-Kinases / genetics
  • Proto-Oncogene Proteins p21(ras) / genetics
  • Receptor, Notch1 / genetics
  • Squamous Cell Carcinoma of Head and Neck
  • Tumor Suppressor Protein p53 / genetics

Substances

  • Cyclin-Dependent Kinase Inhibitor p16
  • NOTCH1 protein, human
  • Receptor, Notch1
  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • Phosphatidylinositol 3-Kinases
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human
  • HRAS protein, human
  • Proto-Oncogene Proteins p21(ras)