UNIVERSITY OF PENNSYLVANIA CANCER GENETICS NETWORK

描述：（申请人的描述）遗传性癌症易感性具有 被国家癌症研究所列为高度优先领域， 研究，癌症遗传学网络的发展， 作为这项工作的重要组成部分。 一旦成立， 癌症遗传学网络将为患者的研究提供资源 有癌症家族史，其中一些将记录 已知癌症易感基因的突变。 大学 宾夕法尼亚癌症中心非常适合作为一个 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。 Timothy Rebbeck博士是一名合作研究者，是少数几个分子生物学家之一。 流行病学家和癌症专家 宾夕法尼亚大学 符合所有基本的网络标准，并有一个已建立的乳腺癌家族 超过1000个家庭的数据库，包括广泛的家庭，人口统计和 暴露史，登记了200多个已知的BRCA1和BRCA2突变 携带者，以及来自有色人种的3000多名患者的登记 病变诊所。 已建立的临床癌症风险评估计划提供 有乳腺癌、卵巢癌和乳腺癌家族史的患者持续增加， 结肠癌和黑色素瘤 测试前和测试后方案 为选择遗传易感性测试的个人提供咨询， 地方，并已作为模型，许多发展中国家的计划在美国。 跟踪和跟踪病人的机制已经建立， 生物标本在手的许多个人在 登记研究，正在进行新入组患者的标本采集，以及 一个信息系统，将接口容易与其他网络网站， 到位 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，并正在建立HNPCC检测方案， 社区医院的中心网络，将所有患者转诊至 考虑到基因检测，生物伦理学中心已经在 癌症易感性基因检测研究的前沿， 最先进的通信功能，同时管理OncoLink (an为所有癌症患者提供的在线资源， 公认的卓越）和BIC网站（所有已知 BRCA1和BRCA2突变）。 此外，调查人员将 宾夕法尼亚大学的直接网络活动 参与大型合作研究的广泛记录 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.