Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1

Nishant Agrawal, Mitchell J. Frederick, Curtis R. Pickering, Chetan Bettegowda, Kyle Chang, Ryan J. Li, Carole Fakhry, Tong Xin Xie, Jiexin Zhang, Jing Wang, Nianxiang Zhang, Adel K. El-Naggar, Samar A. Jasser, John N. Weinstein, Lisa Treviño, Jennifer A. Drummond, Donna M. Muzny, Yuanqing Wu, Laura D. Wood, Ralph H. HrubanWilliam H. Westra, Wayne M. Koch, Joseph A. Califano, Richard A. Gibbs, David Sidransky, Bert Vogelstein, Victor E. Velculescu, Nickolas Papadopoulos, David A. Wheeler, Kenneth W. Kinzler, Jeffrey N. Myers

Research output: Contribution to journalArticlepeer-review

1179 Scopus citations


Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide. To explore the genetic origins of this cancer, we used whole-exome sequencing and gene copy number analyses to study 32 primary tumors. Tumors from patients with a history of tobacco use had more mutations than did tumors from patients who did not use tobacco, and tumors that were negative for human papillomavirus (HPV) had more mutations than did HPV-positive tumors. Six of the genes that were mutated in multiple tumors were assessed in up to 88 additional HNSCCs. In addition to previously described mutations in TP53, CDKN2A, PIK3CA, and HRAS, we identified mutations in FBXW7 and NOTCH1. Nearly 40% of the 28 mutations identified in NOTCH1 were predicted to truncate the gene product, suggesting that NOTCH1 may function as a tumor suppressor gene rather than an oncogene in this tumor type.

Original languageEnglish (US)
Pages (from-to)1154-1157
Number of pages4
Issue number6046
StatePublished - Aug 26 2011

ASJC Scopus subject areas

  • General


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