Post Genome Wide Association Studies in TGCT WES

We have leveraged our previous collaborative research to better understand the genetic underpinnings of testicular germ cell tumor (TGCT), and have completed whole exome sequencing on the DNA of patients at high risk for TGCT. Specifically, we conducted a study of high-risk individuals using data from Penn Medicine and the NCI. We collected germline DNA from blood or saliva samples from men with bilateral TGCT, and a family history consisting of at least one first to third degree relative diagnosed with the disease. The goal of the study was to identify coding genomic variation associated with predisposition to TGCT. Whole exome sequencing and gene burden analyses were performed on 293 men with a family history of TGCT or bilateral disease. 228 unique families were represented in this... (for more see dbGaP study page.)

本研究依托既往合作研究基础，以期更深入解析睾丸生殖细胞肿瘤（testicular germ cell tumor，TGCT）的遗传基础，并已针对TGCT高风险人群的DNA完成全外显子组测序。具体而言，本研究依托宾夕法尼亚大学医学部（Penn Medicine）与美国国家癌症研究所（National Cancer Institute, NCI）的数据，针对高风险人群开展相关研究。我们从双侧TGCT患者的血液或唾液样本中获取生殖系DNA，且所有受试者均存在至少1名一级至三级亲属罹患该病的家族史。本研究的核心目标为筛选与TGCT易感性相关的编码区基因组变异。研究团队对293名具有TGCT家族史或双侧患病史的男性受试者开展了全外显子组测序与基因负荷分析。本次研究共纳入228个独特家族……（更多详情请参见dbGaP研究页面）