The Mutational Landscape of Head and Neck Squamous Cell Carcinoma
Name
Lander_The Mutational.pdf
Size
2.13 MB
Format
Adobe PDF
Checksum (MD5)
d67d85183cd9dce17327f53cc7e84a2a
Author(s)
Lander, Eric Steven
Date Issued
July 2011
Journal
Science
Publisher
American Association for the Advancement of Science
Citation
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.
Version
Author's final manuscript
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.
Description
2012 August 09 Author Manuscript
MIT Department
Massachusetts Institute of Technology. Department of Biology
Terms of Use
Creative Commons Attribution-Noncommercial-Share Alike 3.0
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DOI of Published Version
https://doi.org/10.1126/science.1208130
