Australian Breast Cancer Family Registry

描述（由申请人提供）：乳腺癌家族登记（乳腺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3，091个家庭招募了12，593人（平均每个家庭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NIH资助。使用代理问卷收集了13，870名基于人群的病例亲属，8，011名基于人群的对照亲属和1，750名基于诊所的家庭亲属的已故亲属或无法参与的亲属的数据。我们收集了6,023份血液样本; 4,071份来自1,865个以人口为基础的家庭（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）。已经鉴定了总共207个突变携带者（114个BRCA 1，93个BRCA 2）。与合作部分的基础设施和研究议程一致，ABCFR将通过以下方式为维护和重组乳腺CFR做出贡献：对所有注册者进行系统性随访，包括先证者和男性和女性亲属;管理核心风险因素问卷并更新他们的个人和家族癌症史;扩大从基线以来确定的携带者家族和/或新乳腺癌病例中的招募;收集治疗和结果数据，以促进临床和转化研究;继续维持和扩大生物标本收集;建立淋巴母细胞系，提取DNA并在Coriell细胞库建立生物样本的集中备份;进行进一步的BRCA 1和BRCA 2突变测试，包括测试大的基因组改变，维护和进一步发展ABCFR信息学单元;与三角研究所（RTI）的新信息学支持中心（ISC）合作，促进ABCFR数据在研究中的使用;为研究设计、分析和数据管理做出贡献，贡献当地的专业知识，使合作行为研究能够在澳大利亚进行，并与其他研究中心进行的研究相互交织;提供一个行政结构，以促进上述未来的研究和基础设施活动;并前往面对面的会议，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.