Journal
SCIENCE
Volume 333, Issue 6046, Pages 1157-1160Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1208130
Keywords
-
Categories
Funding
- Carlos Slim Health Institute
- International Cancer Genome Consortium
- National Human Genome Research Institute
- National Cancer Institute
- Starr Cancer Consortium
- Novartis Institutes for BioMedical Research
- Howard Hughes Medical Institute
- American Cancer Society
- NIH
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available