Australian Breast Cancer Family Registry

描述(由申请人提供)：乳腺癌家庭登记中心(Breast CFR)的广泛目标是建立和维护一个假设驱动的研究基础设施，以提供乳腺癌和相关癌症遗传流行病学的广泛研究议程，涵盖广泛的跨学科和翻译项目。澳大利亚乳腺癌家庭登记处(ABCFR)从3091个家庭招募了12593人(每个家庭平均4.1人)。其中，来自1,549个家庭的8,694人(平均每个家庭5.6人)由美国国立卫生研究院资助。对13,870名以人口为基础的病例的亲属、8,011名以人口为基础的控制组的亲属和1,750名以诊所为基础的家庭的亲属使用代理问卷收集了已故亲属或无法参与的亲属的数据。我们收集了6023份血液样本，其中4071份来自1865个基于人口的家庭(每个家庭2.2份)，684份来自217个以诊所为基础的家庭(每个家庭3.2份)。共鉴定出207例突变携带者(114例BRCA1，93例BRCA2)。根据合作部分的基础设施和研究议程，ABCFR将通过以下方式为维持和重组乳腺CFR做出贡献：对包括先证者以及男性和女性亲属在内的所有登记者进行系统跟踪；管理核心风险因素问卷并更新他们的个人和家族癌症病史；扩大在携带者家庭和/或自基线以来发现的新乳腺癌病例中的招募；收集治疗和结果数据，以促进临床和转化性研究；继续维持和扩大生物样本收集；建立淋巴母细胞系，提取DNA，并在科里尔细胞储存库建立生物样本的集中备份；进行进一步的BRCA1和BRCA2突变测试，包括大型基因组改变的测试，维护和进一步发展ABCFR信息学单位；与三角研究所(RTI)新的信息学支持中心合作，促进将ABCFR数据用于研究；为研究设计、分析和数据管理做出贡献，贡献当地专业知识，使协作行为研究能够在澳大利亚进行，并与在其他地点进行的研究交叉；提供行政结构，以促进上述未来的研究和基础设施活动；以及出差参加面对面的会议，以继续已经建立的强大的合作联系。

DESCRIPTION (provided by applicant): The broad objective of the Breast Cancer Family Registry (Breast CFR) is to establish and maintain a hypothesis-driven research infrastructure to provide a broad research agenda in the genetic epidemiology of breast and related cancers that covers a wide spectrum of interdisciplinary and translational projects. The Australian Breast Cancer Family Registry (ABCFR) has recruited 12,593 individuals from 3,091 families (average 4.1 per family). Of these, 8,694 individuals from 1,549 families (average 5.6 per family) were funded by the NIH. Data on deceased relatives or relatives who were unable to participate was collected using a proxy questionnaire for 13,870 relatives of the population-based cases, 8,011 relatives of the population-based controls and 1,750 relatives from the clinic-based families. We have collected 6,023 blood samples; 4,071 from 1,865 population-based families (2.2 per family) and 684 from 217 clinic-based families (3.2 per family). A total of 207 mutation carriers (114 BRCAl, 93 BRCA2) have been identified. Consistent with the infrastructure and research agenda in the Collaborative Component, the ABCFR will contribute to maintaining and restructuring the Breast CFR by: conducting a systematic follow-up of all registrants, including probands and male and female relatives; administering the core risk factor questionnaire and updating their personal and family history of cancer; expanding recruitment within carrier families and/or new breast cancer cases identified since baseline; collecting treatment and outcome data to facilitate clinical and translational research; continuing to maintain and expand the biospecimen collection; establishing lymphoblastoid cell lines, extracting DNA and establishing a centralized back-up of biospecimens at Coriell Cell Repositories; performing further BRCAl and BRCA2 mutation testing, including testing for large genomic alterations, maintaining and further developing the ABCFR Informatics Unit; working in collaboration with the new Informatics Support Center (ISC) at the Research Triangle Institute (RTI) to facilitate the use of the ABCFR data for research; contributing to study design, analysis and data management, contributing local expertise to enable collaborative behavioral research to be conducted in Australia and interdigitating with research conducted in other sites; providing an administrative structure to facilitate the future research and infrastructure activities listed above; and traveling to face-to-face meetings to continue the strong collaborative links already established.