CORE--FAMILY ASCERTAINMENT AND GENETIC TESTING

核心——家族查明和基因检测

基本信息

批准号：
6203346
负责人：
Joellen M. SCHILDKRAUT
金额：
$ 17.92万
依托单位：
DUKE UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
1999
资助国家：
美国
起止时间：
1999-09-01 至 2003-08-31
项目状态：
已结题

项目摘要

The central role of the Genetic Susceptibility Testing Core is to provide a resource for BRCA1 mutation testing, to develop and maintain the Duke Familial Breast Cancer Database (FBCD), and develop and maintain a DNA bank within the Duke Breast Cancer SPORE. This will provide a resource for genetic epidemiologic and molecular studies at Duke University Medical Center. The overall goal of this effort is to advance our basic and clinical understanding of the BRCA1 susceptibility gene for breast cancer. This goal is accomplished by providing key personnel to assemble breast cancer family data, to collect blood samples for molecular analyses, and to sequence DNA to determine the presence of BRCA1 mutations. The Genetic Susceptibility Testing Core will directly interface with Drs.Winer's and Rimer's study and will provide the resource to identify relatives from familial breast-ovarian cancer families. The Genetic Susceptibility Testing Core will also provide BRCA1 sequencing capabilities for Drs. Mark's and Berchuck's study of the molecular biology and function of the BRCA1 gene. Data will be generated to facilitate Drs. Berry's and Prosnitz's effort in developing decision models. All statistical analyses will be performed by the Biostatistics and Data Management Core. The Genetic Susceptibility Testing Core will not only provide a resource for the various SPORE-related projects but will be a spring-board for future genetic epidemiologic and molecular studies of familial breast cancer. We will also collaborate with Dr. Steven Narod and participate in the activities of the North American Breast Cancer Consortium.

遗传易感性测试核心的核心作用是提供 BRCA1 突变测试资源，用于开发和维护 Duke 家族乳腺癌数据库 (FBCD)，并开发和维护 DNA 杜克乳腺癌 SPORE 内的银行。这将为杜克大学医学院的遗传流行病学和分子研究中心。这项工作的总体目标是推进我们的基础和对乳腺癌 BRCA1 易感基因的临床了解。这一目标是通过提供关键人员来组装乳房来实现的癌症家族数据，收集血液样本进行分子分析，以及对 DNA 进行测序以确定是否存在 BRCA1 突变。遗传基因敏感性测试核心将直接与 Drs.Winer 和里默的研究将提供资源来识别亲属家族性乳腺癌卵巢癌家族。遗传易感性测试核心还将为 Drs 提供 BRCA1 测序功能。马克和伯查克对分子生物学和功能的研究 BRCA1 基因。将生成数据以方便博士。贝瑞的和 Prosnitz 在开发决策模型方面所做的努力。所有统计分析将由生物统计和数据管理核心执行。这遗传易感性检测核心不仅会提供资源各种与 SPORE 相关的项目，但将成为未来的跳板家族性乳腺癌的遗传流行病学和分子研究。我们还将与 Steven Narod 博士合作并参与北美乳腺癌协会的活动。