The Mutational Landscape of Head and Neck Squamous Cell Carcinoma
作者： N. Stransky , A. M. Egloff , A. D. Tward , A. D. Kostic , K. Cibulskis
关键词:
摘要: Head and neck squamous cell carcinoma (HNSCC) is a common, morbid, frequently lethal malignancy. To uncover its mutational spectrum, we analyzed whole-exome sequencing data from 74 tumor-normal pairs. The majority exhibited profile consistent with tobacco exposure; human papillomavirus was detectable by DNA infected tumors. In addition to identifying previously known HNSCC genes (TP53, CDKN2A, PTEN, PIK3CA, HRAS), our analysis revealed many not implicated in this At least 30% of cases harbored mutations that regulate differentiation (for example, NOTCH1, IRF6, TP63), implicating dysregulation as major driver carcinogenesis. More generally, the results indicate ability large-scale reveal fundamental tumorigenic mechanisms.
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