Comprehensive genomic characterization of head and neck squamous cell carcinomas
作者： Michael S Lawrence , Carrie Sougnez , Lee Lichtenstein , Kristian Cibulskis , Eric Lander
DOI: 10.1038/NATURE14129
关键词:
摘要: The Cancer Genome Atlas profiled 279 head and neck squamous cell carcinomas (HNSCCs) to provide a comprehensive landscape of somatic genomic alterations. Here we show that human-papillomavirus-associated tumours are dominated by helical domain mutations the oncogene PIK3CA, novel alterations involving loss TRAF3, amplification cycle gene E2F1. Smoking-related HNSCCs demonstrate near universal loss-of-function TP53 CDKN2A inactivation with frequent copy number including 3q26/28 11q13/22. A subgroup oral cavity favourable clinical outcomes displayed infrequent in conjunction activating HRAS or coupled inactivating CASP8, NOTCH1 TP53. Other distinct subgroups contained chromatin modifier NSD1, WNT pathway genes AJUBA FAT1, activation oxidative stress factor NFE2L2, mainly laryngeal tumours. Therapeutic candidate were identified most HNSCCs.
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