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The Mutational Landscape of Head and Neck Squamous Cell Carcinoma
N. Stransky ,
A. M. Egloff ,
A. D. Tward ,
A. D. Kostic ,
K. Cibulskis ,
A. Sivachenko ,
G. V. Kryukov ,
M. S. Lawrence ,
C. Sougnez ,
A. McKenna ,
E. Shefler ,
A. H. Ramos ,
P. Stojanov ,
S. L. Carter ,
D. Voet ,
M. L. Cortes ,
D. Auclair ,
M. F. Berger ,
G. Saksena ,
C. Guiducci ,
R. C. Onofrio ,
M. Parkin ,
M. Romkes ,
J. L. Weissfeld ,
R. R. Seethala ,
L. Wang ,
C. Rangel-Escareno ,
J. C. Fernandez-Lopez ,
A. Hidalgo-Miranda ,
J. Melendez-Zajgla ,
W. Winckler ,
K. Ardlie ,
S. B. Gabriel ,
M. Meyerson ,
E. S. Lander ,
G. Getz ,
T. R. Golub ,
L. A. Garraway ,
J. R. Grandis
August 25 2011
July 28 2011
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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.