驱动基因是指在肿瘤发生发展过程中发挥重要作用的基因,其相关研究是目前肿瘤领域研究的热点。多个GWAS表明,驱动基因的生殖系遗传变异与恶性肿瘤的易感性显著相关。因此,本研究拟根据最新研究进展,针对新近发现的多个头颈部鳞癌（HNSCC）相关驱动基因,采用目标区域捕获测序技术确定其潜在功能区（包括外显子区、5'UTR、3'UTR及调控区）内包含低频位点在内的整体遗传变异图谱,检测遗传变异与HNSCC易感性的关联，随后通过大样本的病例-对照研究进行后期验证,并综合应用生物信息学和分子生物学等方法进行生物学机制研究。本课题将进一步阐明HNSCC的易感机制，并为揭示驱动基因的重要作用以及HNSCC发生的生物学机制提供新思路。

Driver genes are defined as those genes causally linked to oncogenesis and have become the focus of recent cancer research. The findings of several GWASs have suggested that germline variants of driver genes have significant associations with the susceptibility to human cancer. In this project, we will focus on some newly identified driver genes of squamous cell carcinomas of the head and neck(HNSCC) and use target region sequencing to investigate the associations between all genetic variants in the potentially functional regions of those genes and risk of HNSCC.Then, the positive variants will be replicated in another case-control study. In combination with bioinformatics and molecular biology methods, we plan to further evaluate the biological mechanisms of identified variants. These efforts may further clarify the susceptibility to HNSCC, provide new insight into the role of driver genes and the etiology of HNSCC and improve the prevention and treatment level for HNSCC.