The Familial Colorectal Neoplasia Collaborative Group

描述(由申请人提供)：结肠癌家庭登记(C-CFR)是一个多中心的基础设施，由美国国立卫生研究院于1997年发起，目标是加速关于结直肠癌病因、预防和结果的多学科发现。世界各地有资格的研究人员都可以获得登记册数据和生物谱。书记官处现已接近成熟，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迅速增加。在过去的十年里，六个C-CFR中心同意并招募了超过11,000个家庭，这些家庭大多是基于人口的，从中等风险到非常高的风险。通过标准化方案收集家族史、流行病学危险因素、血液采集、肿瘤组织采集，并根据DNA错配修复熟练程度对肿瘤进行基线表型鉴定，对这些家庭进行登记。数据被传输到中央信息学中心，完成的研究研究的数据也被传输，因此随着时间的推移，每个家庭的数据都会越来越多地被注释。梅奥C-CFR被选为最初的六个C-CFR中心之一。每个中心都是因为其与其他中心的潜在互补性而被选中，以创建一个最终的实体，以最佳地服务于不同类型的结直肠癌研究。梅奥C-CFR的标志是在遗传学和生物标本方面的特殊专业知识，包括临床和实验室方面。梅奥C-CFR在招聘和研究贡献方面也有一个非常平衡和稳健的组合。在这一更新申请中，AIMS被战略性地优先考虑，并与所有C-CFR站点协调一致，以尽可能有效地推进结直肠癌研究。Mayo的具体目标包括：1)扩大招募到已知的单基因疾病家庭；2)招募80个新的极高风险家庭；3)跟踪2,854名参与者的生命状况和新的癌症家族史；4)确定和提取癌症分期、治疗和结果的医疗记录；5)维持高质量的本地生物谱系资料库，并与拟议的中央资料库整合；6)通过继续肿瘤表型、对整个C-CFR进行MLH1、MSH2和MSH6的胚系突变分析，并将产品发送到其他CFR地点，以表征体细胞MLH1甲基化和BRAF分析、胚系PMS2和MYH突变，以支持分子表征核心；7)维护当地生物信息学和数据传输；8)维护必要的行政核心，以维持C-CFR。

DESCRIPTION (provided by applicant): 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. The Mayo C-CFR was selected as one of the original six C-CFR centers. Each center was selected for its potential complementary with the other centers to create a final entity that would optimally serve diverse types colorectal cancer research. The hallmark of the Mayo C-CFR is particular expertise in genetics and biospecimens, including both clinical and laboratory aspects. Mayo C-CFR has a notably well balanced and robust portfolio for recruitment and research contributions as well. In this renewal application, Aims were strategically prioritized and harmonized with all C-CFR sites to move colorectal cancer research forward as efficiently as possible. The Mayo Specific Aims include: 1) expand recruitment into families with known single-gene disorders; 2) enroll 80 new very high risk families; 3) follow-up 2,854 participants for vital status and new family history of cancers; 4) ascertain and abstract medical records of cancer stage, treatments and outcomes; 5) maintain high quality local Biospecimen repository and integrate with proposed Central Repository; 6) support molecular characterization core by continuing tumor phenotyping, performing germline mutation analysis on MLH1, MSH2, and MSH6 for the entire C-CFR, and dispatching products to other CFR sites for characterization of somatic MLH1 methylation and BRAF analysis, germline PMS2 and MYH mutations; 7) maintain local bioinformatics and data transmissions; 8) maintain necessary administrative core to sustain the C-CFR.