Comprehensive genomic characterization of head and neck squamous cell carcinomas Journal Article


Author: The Cancer Genome Atlas Network
Contributors: Ciriello, G.; Ladanyi, M.; Lee, W.; Ramirez, R.; Sander, C.; Shen, R.; Sinha, R.; Weinhold, N.; Taylor, B. S.; Askoy, B. A.; Dresdner, G.; Gao, J.; Gross, B.; Jacobsen, A.; Reva, B.; Schultz, N.; Sumer, S. O.; Sun, Y.; Chan, T. A.; Morris, L. G.
Article Title: Comprehensive genomic characterization of head and neck squamous cell carcinomas
Abstract: 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 HRAS or PIK3CA, coupled with inactivating mutations of CASP8, NOTCH1 and TP53. Other distinct subgroups contained loss-of-function alterations of the chromatin modifier NSD1, WNT pathway genes AJUBA and FAT1, and activation of oxidative stress factor NFE2L2, mainly in laryngeal tumours. Therapeutic candidate alterations were identified in most HNSCCs.
Keywords: human papillomavirus
Journal Title: Nature
Volume: 517
Issue: 7536
ISSN: 0028-0836
Publisher: Nature Publishing Group  
Date Published: 2015-01-01
Start Page: 576
End Page: 582
Language: English
DOI: 10.1038/nature14129
PROVIDER: scopus
PMCID: PMC4311405
PUBMED: 25631445
DOI/URL:
Notes: Export Date: 2 March 2015 -- Source: Scopus
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MSK Authors
  1. Timothy Chan
    215 Chan
  2. Ronglai Shen
    127 Shen
  3. Marc Ladanyi
    864 Ladanyi
  4. Luc Morris
    123 Morris
  5. Boris A Reva
    36 Reva
  6. Chris Sander
    196 Sander
  7. Rileen Sinha
    19 Sinha
  8. Jianjiong Gao
    62 Gao
  9. Barry Stephen Taylor
    138 Taylor
  10. Nikolaus D Schultz
    196 Schultz
  11. Benjamin E Gross
    26 Gross
  12. William Lee
    38 Lee
  13. Bulent Arman Aksoy
    33 Aksoy
  14. Selcuk Onur Sumer
    21 Sumer
  15. Yichao Sun
    11 Sun
  16. Ricardo   Ramirez
    19 Ramirez