NORTHERN CALIFORNIA COOPERATIVE FAMILY REGISTRY

北加州合作家族登记处

• 批准号: 2871877
• 负责人: DEE WAYNE WEST
• 金额: $ 89.83万
• 依托单位: CANCER PREVENTION INSTIT OF CALIFORNIA
• 依托单位国家: 美国
• 财政年份: 1995
• 资助国家: 美国
• 起止时间: 1995-09-30 至 2000-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2871877
• 关键词: Li Fraumeni syndrome; blood chemistry; brca gene; breast neoplasms; cancer registry /resource; cancer risk; cooperative study; data collection; disease carrier state; early diagnosis; ethics; family genetics; gene mutation; genetic carriers; histopathology; hormone receptor; human subject; neoplasm /cancer epidemiology; neoplasm /cancer genetics; ovary neoplasms; p53 gene /protein; pediatric neoplasm /cancer; preneoplastic state; questionnaires; tissue resource /registry; tumor suppressor genes

This project proposes to establish a Family Registry for Breast Cancer (FRBC) as part of an NCl-funded cooperative registry. The FRBC will be population-based (in the Greater San Francisco Bay Area), include many racial/ethnic minorities, and use a cost-efficient design to: 1) collect pedigree information, epidemiologic data, and biologic specimens from breast cancer cases with a family history of breast, ovarian, and/or childhood cancers; 2) identify a population at high-risk for breast cancer that could be examined for inherited BRCA1 and p53 mutations, and facilitate cloning and analysis of other susceptibility genes; and 3) identify and obtain biologic specimens from Greater Bay Area families with Li-Fraumeni syndrome and a select subset of Dr. Li's established Li- Fraumeni families to broaden the resource for characterizing genetic susceptibility to breast cancer. Data included in the FRBC will be available to approved investigators to further genetic and translational research for breast cancer. Cases included in the FRBC will be identified by the Northern California Cancer Center's (NCCC) population-based Greater Bay Area Cancer Registry (GBACR), which covers six million residents. During a 3-year ascertainment period, 8047 female cases (< age 65) and 78 male cases (< age 80), diagnosed from 1/1/95 through 12/31/97, will be identified. Cases will be asked to complete a brief screening questionnaire about their family history of cancer. Based on the reported cancer patterns of breast, ovarian and childhood cancers in their families, we will classify cases as "exceptional," "ordinary," or "sporadic" probands. "Exceptional" and a sample of "ordinary" probands (n=875), the groups reporting positive family histories, will be sent a family pedigree and a brief risk-factor questionnaire. A race-stratified sample of "exceptional" and "ordinary" probands who complete the questionnaires (N = 424) will be asked to provide a blood sample and access to archived tissue. Affected relatives of probands from these high- risk families whose diagnoses have been verified by review of pathology and medical records will be asked to complete a family pedigree, donate blood, and provide access to archived tissue (N = 648). Blood collected as part of the FRBC will be processed and stored at NCCC. Archived tissue will be prepared for storage by a Co-Investigator at Stanford University. With the proposed sampling strategy, racial/ethnic minorities will comprise one-half of the high-risk probands and affected family members. Cases will be followed using GBACR methods to obtain survival and recurrence data. Genetic counseling will be provided as needed using trained oncology nurse/genetic counselor pairs and existing community resources. An Operations Core will track all aspects of the project, record pedigrees, and make FRBC data accessible electronically; this unit also will conduct quality-control measures at all steps of data collection. Four pilot studies using the FRBC are proposed. FRBC Investigators will serve on NCl's Steering Committee and develop common policies for quality and distribution of data from the FRBC.

该项目建议建立乳腺癌家庭登记处 (FRBC) 作为 NCl 资助的合作登记机构的一部分。 FRBC 将 以人口为基础（在大旧金山湾区），包括许多 种族/族裔少数群体，并使用具有成本效益的设计来：1) 收集 家系信息、流行病学数据和生物样本 有乳腺癌、卵巢癌和/或乳腺癌家族史的乳腺癌病例 儿童癌症； 2）确定乳腺癌高危人群 可以检查遗传性 BRCA1 和 p53 突变，以及 促进其他易感基因的克隆和分析；和 3) 识别并获取大湾区家庭的生物样本 Li-Fraumeni 综合征和李博士建立的 Li-Fraumeni 综合征的一个选定子集 Fraumeni 家庭扩大遗传特征资源 对乳腺癌的易感性。 FRBC 中包含的数据将是 可供批准的研究人员进一步进行遗传和转化研究 乳腺癌研究。 FRBC 中包含的案例将被确定 由北加州癌症中心 (NCCC) 以人口为基础的大 湾区癌症登记处 (GBACR)，覆盖 600 万居民。 在 3 年的确定期内，8047 名女性病例（< 65 岁）和 78 名 2095 年 1 月 1 日至 97 年 12 月 31 日诊断的男性病例（< 80 岁）将被 确定。案件将被要求完成简短的筛选 关于他们的癌症家族史的调查问卷。根据报道 乳腺癌、卵巢癌和儿童癌症的癌症模式 家庭，我们将案件分为“特殊”、“普通”或 “零星”先证者。 “特殊”和“普通”先证者样本 (n=875)，报告正面家族史的群体，将被发送 家庭谱系和一份简短的危险因素调查问卷。 种族分层 完成测试的“特殊”和“普通”先证者样本 调查问卷（N = 424）将被要求提供血液样本和 访问存档的组织。这些高危先证者的受影响亲属 经病理学检查确诊的风险家庭 并要求医疗记录来完成家族谱系、捐赠 血液，并提供对存档组织的访问（N = 648）。采集的血液为 部分 FRBC 将在 NCCC 进行处理和存储。存档组织 将由斯坦福大学的联合研究员准备储存。 根据拟议的抽样策略，少数种族/族裔将 包括一半的高危先证者和受影响的家庭成员。 将使用 GBACR 方法对病例进行跟踪以获得生存率和 复发数据。 将根据需要提供遗传咨询 训练有素的肿瘤科护士/遗传咨询师对和现有社区 资源。运营核心将跟踪项目的各个方面， 记录谱系，并以电子方式提供 FRBC 数据；本单位 还将对数据的各个步骤进行质量控制措施 收藏。提出了四项使用 FRBC 的试点研究。 FRBC 调查员将在 NCl 指导委员会任职并制定 FRBC 数据质量和分发的共同政策。