The Familial Colorectal Neoplasia Collaborative Group

描述（由申请人提供）：结肠癌家族登记处（C-CFR）是一个多中心基础设施，由NIH于1997年发起，旨在加速对结肠直肠癌病因，预防和结局的多学科发现。世界各地的合格研究人员均可访问登记数据和生物标本。登记册现已趋于成熟，正在成功地履行其任务，因为150个合作项目已经在进行或完成，申请使用登记册的人数迅速增加。在过去的十年中，六个C-CFR中心已经同意并招募了超过11，000个主要基于人口的家庭，这些家庭跨越了从平均风险到非常高风险的连续体。使用标准化方案招募家庭，以收集家族史、流行病学风险因素、血液收集、肿瘤组织收集和用于DMA错配修复熟练度的肿瘤基线表型。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。选择马约C-CFR作为最初的6个C-CFR中心之一。每个中心都是根据其与其他中心的潜在互补性而选择的，以创建一个最终实体，最佳地服务于不同类型的结直肠癌研究。马约C-CFR的特点是在遗传学和生物标本，包括临床和实验室方面的专业知识。马约C-CFR在招聘和研究贡献方面也有一个非常平衡和强大的投资组合。在这次更新申请中，目标在战略上优先考虑，并与所有C-CFR网站协调，以尽可能有效地推动结直肠癌研究。马约的具体目标包括：1）扩大招募已知单基因疾病的家庭; 2）招募80个新的极高风险家庭; 3）随访2，854名参与者的生命状态和新的癌症家族史; 4）确定和提取癌症阶段，治疗和结果的医疗记录; 5）保持高质量的本地生物标本库并与拟议的中央库整合; 6）通过继续进行肿瘤表型分析，对整个C-CFR的MLH 1、MSH 2和MSH 6进行种系突变分析，并将产品发送到其他CFR中心进行体细胞MLH 1甲基化和BRAF分析、种系PMS 2和MYH突变表征，支持分子表征核心; 7）维护当地生物信息学和数据传输; 8）维护必要的管理核心以维持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.