Comprehensive genomic characterization of head and neck squamous cell carcinomas

The Cancer Genome Atlas profiled 279 head and neck squamous cell carcinomas (HNSCCs) to provide a comprehensive landscape of somatic genomic alterations. Here we show that human-papillomavirus-associated tumours are dominated by helical domain mutations of the oncogene PIK3CA, novel alterations involving loss of TRAF3, and amplification of the cell cycle gene E2F1. Smoking-related HNSCCs demonstrate near universal loss-of-function TP53 mutations and CDKN2A inactivation with frequent copy number alterations including amplification of 3q26/28 and 11q13/22. A subgroup of oral cavity tumours with favourable clinical outcomes displayed infrequent copy number alterations in conjunction with activating mutations of…

• NI
  National Institutes of Health

  Awards: U24 CA143882, U54 HG003079, U24 CA143866, U54 HG003067, U24 CA143799, CA143835, U24 CA143835, P50CA097190, U24 CA143843, U24 CA144025, HG003079, U54 HG003273, CA143883, U24 CA143845, U24 CA143848, U24 CA143858, HG003067, U24 CA143883, U24 CA143840, U24 CA143867
• NI
  National Institute on Deafness and Other Communication Disorders

  Award: ZIA-DC-000016