Informatics Support Center for the Cancer Family Registries

1995年，美国国家癌症研究所资助了乳腺癌家庭登记处（Breast CFR），该登记处由来自美国、加拿大和澳大利亚的六家医学研究机构建立。包括北加州乳腺癌家庭登记处（NC-FRBC）在内的六个站点已经开发了基础设施和资源，以促进和加快广泛的多学科研究，范围从乳腺癌的遗传学和遗传流行病学研究，包括基因-基因和基因-环境相互作用，到针对乳腺癌临床、行为和预防方面的转化研究。该基础设施的核心是使用标准化程序和数据收集仪器从13,000多个乳腺癌和卵巢癌家庭收集的数据和生物标本。通过以人群为基础的癌症登记处（北加州、安大略省（加拿大）和墨尔本（澳大利亚））以及通过家庭癌症诊所和社区外展（纽约市、费城和犹他州）招募了具有广泛乳腺癌风险的家庭。结肠癌家族登记处（C-CFR）是由美国国立卫生研究院于1997年发起的一个多中心基础设施，其目标是加速结肠直肠癌病因、预防和结果的多学科发现。注册数据和生物标本可供世界各地合格的研究人员使用。书记官处现已趋于成熟，正在成功地履行其任务，因为已有150个合作项目正在进行或完成，要求使用书记官处的申请正在迅速增加。在过去的十年里，六个C-CFR中心已经同意并登记了超过11000个主要以人口为基础的家庭，这些家庭跨越了从平均风险到极高风险的连续体。采用标准化方案收集家族史、流行病学危险因素、血液收集、肿瘤组织收集和肿瘤的基线表型，对DMA错配修复熟练程度进行登记。数据被传输到中央信息中心，完成的研究数据也被传输，因此随着时间的推移，每个家庭的数据越来越多地被注释。

In 1995, the National Cancer Institute funded the Breast Cancer Family Registry (Breast CFR) established at six medical research institutions from the U.S., Canada, and Australia. The six sites, including the Northern California Family Registry for Breast Cancer (NC-FRBC), have developed an infrastructure and resources to facilitate and expedite a broad spectrum of multidisciplinary research, ranging from studies of the genetics and genetic epidemiology of breast cancer, including gene-gene and gene-environment interactions, to translational studies addressing clinical, behavioral, and preventive aspects of breast cancer. At the center of this infrastructure are data and biospecimens collected from over 13,000 breast and ovarian cancer families using standardized procedures and data collection instruments. Families across a broad spectrum of breast cancer risk have been recruited through population-based cancer registries (Northern California, Ontario (Canada), and Melbourne (Australia)) and through family cancer clinics and community outreach (New York City, Philadelphia, and Utah). The Colon Cancer Family Registry (C-CFR) is a multicenter infrastructure, initiated by NIH in 1997, with a goal of accelerating multidisciplinary discoveries on colorectal cancer causes, prevention, and outcomes. Registry data and biospecimens are accessible to qualified researchers around the world. The Registry, which is now reaching maturity, is successfully meeting its mandate, as 150 collaborative projects are already underway or completed and applications for use of the Registry are increasing rapidly. Within the last ten years, the six C-CFR centers have consented and enrolled over 11,000 mostly population-based families that span the continuum from average risk through very high risk. Families are enrolled using standardized protocols for collection of family history, epidemiologic risk factors, blood collection, tumor tissue collection, and baseline phenotyping of tumors for DMA mismatch repair proficiency. Data is transmitted to a central informatics center and data from completed research studies are also transmitted, so data on each family is increasingly annotated over time.