The Mutational Landscape of Head and Neck Squamous Cell Carcinoma
Author(s)Lander, Eric S.
MetadataShow full item record
Head and neck squamous cell carcinoma (HNSCC) is a common, morbid, and frequently lethal malignancy. To uncover its mutational spectrum, we analyzed whole-exome sequencing data from 74 tumor-normal pairs. The majority exhibited a mutational profile consistent with tobacco exposure; human papillomavirus was detectable by sequencing DNA from infected tumors. In addition to identifying previously known HNSCC genes (TP53, CDKN2A, PTEN, PIK3CA, and HRAS), our analysis revealed many genes not previously implicated in this malignancy. At least 30% of cases harbored mutations in genes that regulate squamous differentiation (for example, NOTCH1, IRF6, and TP63), implicating its dysregulation as a major driver of HNSCC carcinogenesis. More generally, the results indicate the ability of large-scale sequencing to reveal fundamental tumorigenic mechanisms.
2012 August 09 Author Manuscript
DepartmentMassachusetts Institute of Technology. Department of Biology
American Association for the Advancement of Science
Stransky, N., A. M. Egloff, A. D. Tward, A. D. Kostic, K. Cibulskis, A. Sivachenko, G. V. Kryukov, et al. “The Mutational Landscape of Head and Neck Squamous Cell Carcinoma.” Science 333, no. 6046 (August 25, 2011): 1157-1160.
Author's final manuscript