• next generation sequencing;
  • mutations;
  • oncogene;
  • tumor suppressor gene;
  • head and neck squamous cell carcinoma


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. © 2012 Wiley Periodicals, Inc. Head Neck, 2013