UNIVERSITY OF PENNSYLVANIA CANCER GENETICS NETWORK

描述：(申请人描述)遗传性癌症易感性有 已被国家癌症研究所列为优先领域 调查，癌症遗传学网络的发展已经完成 提议将其作为这一努力的一个关键组成部分。一旦成立， 癌症遗传学网络将为患者研究提供资源 有癌症家族病史，其中一些会记录下来 已知的癌症易感基因的突变。伊利诺伊大学 宾夕法尼亚州癌症中心非常适合作为 癌症遗传学网络的贡献成员。芭芭拉·韦伯医学博士， 国际公认的癌症遗传学专家将担任PI。 蒂莫西·雷贝克博士是一名共同研究人员，他是少数几个分子之一 具有癌症专业知识的流行病学家。宾夕法尼亚大学 符合已建立的乳腺癌家族的所有基本网络标准 包含1000多个家庭的数据库，包括广泛的家庭、人口统计和 暴露史，200多个已知BRCA1和BRCA2突变的登记 携带者，以及3000多名来自色素沉着患者的登记 皮损诊所。已建立的临床癌症风险评估计划提供 有乳腺、卵巢和卵巢癌家族史的患者的持续累积 结肠癌和黑色素瘤。测试前和测试后的协议 为选择遗传易感性检测的个人提供咨询服务 并在美国的许多开发项目中担任过模范。 跟踪和跟踪患者的机制是完善的， 生物标本已经在手中，为许多人在 登记，样本收集正在进行中，新进入的患者，以及 一个易于与其他网络站点接口的信息学系统是 就位了。宾夕法尼亚大学的独特能力包括 分子诊断实验室，提供CLIA批准的分析 BRCA1和BRCA1，并正在制定HNPCC检测方案，这是一种癌症 社区医院中心网络，将所有患者转介给 对基因检测的考虑，生物伦理中心一直在 癌症易感性基因测试研究的前沿，以及 一流的通信功能，通过管理OncoLink (为所有癌症患者提供的在线资源，已在全国范围内发布 被公认为卓越)和BIC网站(所有已知的存储库 BRCA1和BRCA2更改)。另外，调查人员将会 宾夕法尼亚大学的直接网络活动有 参与大型协作研究的广泛记录 需要共享标本和数据。

DESCRIPTION: (Applicant's Description) Hereditary cancer predisposition has been denoted by the National Cancer Institute as a high priority area of investigation, and the development of a Cancer Genetics Network has been proposed as a critical component of this effort. When established, the Cancer Genetics Network will provide a resource for the study of patients with a family history of cancer, some of which will have documented mutations in the known cancer susceptibility genes. The University of Pennsylvania Cancer Center is extremely well-suited to serve as a contributing member of the Cancer Genetics Network. Barbara Weber, MD, an internationally recognized expert in cancer genetics will serve as the PI. Timothy Rebbeck, PhD, a Co-Investigator, is one of a handful of molecular epidemiologists with expertise in cancer. The University of Pennsylvania meets all basic Network criteria with an established breast cancer family database of more than 1000 families with extensive family, demographic and exposure history, a registry of more than 200 known BRCA1 and BRCA2 mutation carriers, and a registry of more than 3000 patients from the Pigmented Lesion Clinic. Established clinical cancer risk evaluation programs provide ongoing accrual of patients with a family history of breast, ovarian and colon cancer as well as melanoma. Protocols for pre and post testing counseling for individuals who opt for genetic susceptibility testing are in place and have served as models for many developing programs in the US. Mechanisms for the tracking and follow-up of patients are well-established, biological specimens are in hand for many of the individuals in the registries, specimen collection is ongoing, with newly-entered patients, and an informatics system that will interface easily with other Network sites is in place. Unique capabilities at The University of Pennsylvania include a molecular diagnostic laboratory that provides CLIA-approved analysis of BRCA1 and BRCA1 and is establishing protocols for HNPCC testing, a Cancer Center network of community hospitals that refer all patients for consideration of genetic testing, the Center for Bioethics that has been in the forefront of research in genetic testing for cancer susceptibility, and state-of the art communication capabilities with management of both OncoLink (an online resource for all cancer patients that has been nationally recognized for excellence) and the BIC website (a repository for all known BRCA1 and BRCA2 alterations). In addition, the investigators who will direct Network activities at the University of Pennsylvania have an extensive track record of participation in large collaborative studies requiring sharing of specimens and data.