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。梅奥C-CFR被选为最初的六个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来选择的，以创建一个最终的实体，为各种类型的结直肠癌研究提供最佳服务。梅奥C-CFR的特点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有着显著的平衡和稳健的投资组合。在这项更新申请中，Aims被战略性地优先考虑，并与所有C-CFR位点协调一致，以尽可能有效地推进结直肠癌研究。梅奥的具体目标包括：1)将招募范围扩大到已知有单基因疾病的家庭；2)新增80个高危家庭；3)随访2854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、治疗方法和结果的医疗记录；5)维持高质素的本地生物标本储存库，并与拟议的中央储存库整合；6)通过继续进行肿瘤表型分析，对整个C-CFR进行MLH1、MSH2和MSH6的种系突变分析，并将产品分配到其他CFR位点进行体细胞MLH1甲基化和BRAF分析，种系PMS2和MYH突变的表征，支持分子表征核心；7)维护本地生物信息学和数据传输；维持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.