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The mutational landscape of head and neck squamous cell carcinoma.


ABSTRACT: 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.

SUBMITTER: Stransky N 

PROVIDER: S-EPMC3415217 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature

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The mutational landscape of head and neck squamous cell carcinoma.

Stransky Nicolas N   Egloff Ann Marie AM   Tward Aaron D AD   Kostic Aleksandar D AD   Cibulskis Kristian K   Sivachenko Andrey A   Kryukov Gregory V GV   Lawrence Michael S MS   Sougnez Carrie C   McKenna Aaron A   Shefler Erica E   Ramos Alex H AH   Stojanov Petar P   Carter Scott L SL   Voet Douglas D   Cortés Maria L ML   Auclair Daniel D   Berger Michael F MF   Saksena Gordon G   Guiducci Candace C   Onofrio Robert C RC   Parkin Melissa M   Romkes Marjorie M   Weissfeld Joel L JL   Seethala Raja R RR   Wang Lin L   Rangel-Escareño Claudia C   Fernandez-Lopez Juan Carlos JC   Hidalgo-Miranda Alfredo A   Melendez-Zajgla Jorge J   Winckler Wendy W   Ardlie Kristin K   Gabriel Stacey B SB   Meyerson Matthew M   Lander Eric S ES   Getz Gad G   Golub Todd R TR   Garraway Levi A LA   Grandis Jennifer R JR  

Science (New York, N.Y.) 20110728 6046


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 previous  ...[more]

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