Colon Cancer Family Registry Cohort

结肠癌家族登记队列

• 批准号: 8847681
• 负责人: ROBERT William HAILE
• 金额: $ 226.87万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-05-01 至 2016-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8847681
• 关键词: Affect; BRAF gene; Behavior Therapy; Behavioral; Blood specimen; Cancer Prevention Trial; Cessation of life; Clinical; Clinical Data; Collaborations; Colonic Polyps; Colonoscopy; Colorectal; Colorectal Cancer; Colorectal Neoplasms; Colorectal Polyp; Communication Programs; Communities; DNA; Data; Diagnosis; Ensure; Environmental Risk Factor; Epidemiology; Family; Family history of; Family member; Funding; Future; Genes; Genotype; Hereditary Nonpolyposis Colorectal Neoplasms; High-Risk Cancer; Immunohistochemistry; Individual; Informatics; International; Interview; Investigation; KRAS2 gene; MLH1 gene; Malignant Neoplasms; Medical Records; Methylation; Mismatch Repair; Molecular; Mutation; Neoplasms; Outcome; Participant; Pathology; Pathology Report; Prevalence; Prevention; Public Health; Public Health Practice; Questionnaires; Recurrence; Registries; Reporting; Research; Research Infrastructure; Resources; Risk; Risk Factors; Science; Site; Structure; Time; Translations; Update; Vital Status; Woman; abstracting; base; cancer diagnosis; cancer recurrence; cohort; colon cancer family registry; cost; cost effective; follow-up; gene discovery; genetic risk factor; genome wide association study; high risk; member; men; neoplasm registry; novel; population based; promoter; repository; tumor

DESCRIPTION (provided by applicant): The international, multi-site Colon Cancer Family Registry Cohort (CCFRC) is comprised of over 10,000 families and individuals at increased risk of colorectal and other cancers. Existing standardized data include baseline epidemiologic and follow-up questionnaires, clinical data, blood, samples, tumor blocks, comprehensive genotype data, including genome-wide association study (GWAS) data on a substantial proportion of subjects, and extensive molecular characterization of the colorectal tumors. In this application, we seek funding to support the infrastructure and expansion of this cohort with the following specific aims: Aim 1: Maintain the cohort by active follow-up of the CCFRC by: (i) systematically updating personal and family history of cancer and vital status, personal risk factors, prevalence of colorectal polyps, and treatment and cancer recurrence data through questionnaires and interviews; (ii) validating all reports of incident cancers diagnosed since baseline; and (iii) verifying all reports of death against regional and national death registries; (iv) continuing and enhancing with state-of-the-art approaches our retention of cohort participants over time. We will also maintain the existing Biospecimen Repositories and informatics functions. Aim 2: Continue to molecularly characterize the cohort to maximize information and efficiently facilitate multiple types of research by: (i) conducting standardized pathology review for all incident colorectal cancer cases diagnosed since baseline; (ii) sub typing incident colorectal cancer tumors by immunohistochemistry, BRAF, K-ras, and MLH1 promoter methylation; (iii) genotyping, where indicated, participants for known familial mutations in DNA mismatch repair genes and MYH; and (iv) genotyping all participants who have not yet been genotyped for 16 SNPs discovered and validated by GWAS. Aim 3: Enhancement of the cohort with additional clinical and behavioral data by: (i) collecting and abstracting medical records of treatment and recurrence data on population-based cases of colorectal cancer in the cohort since inception, and on all incident cases of colorectal cancer since baseline in selected centers that are able to accomplish this in a cost-effective manner; and (ii) strategically collecting colonoscopy and pathology reports of colonic polyps when possible for high-risk participants (i.e. Lynch Syndrome, Type X, and bi-allelic MYH carriers); and (iii) collecting additional behavioral data by questionnaire that will enhance retention of the cohort and facilitate the translation of CCFRC discoveries into clinical or public health practice. Aim 4: Continue to expand the use of the CCFRC and its resources through active collaborations with the larger scientific community.

描述（由申请人提供）：国际，多站点结肠癌家庭注册表队列（CCFRC）由10,000多个家庭和个人组成，其结直肠癌和其他癌症风险增加。现有的标准化数据包括基线流行病学和随访问卷，临床数据，血液，样品，肿瘤块，全面的基因型数据，包括有关大量受试者的大部分基因组关联研究（GWAS）数据，以及大量的分子表征。在此应用程序中，我们寻求资金来支持该队列的基础架构和扩展，以以下具体目的：目标1：通过积极跟进CCFRC来维持队列，通过：（i）系统地更新癌症的个人和家族史，以及生命状况，个人风险因素，结构性态度的流行以及通过问题和癌症复发数据的流行，以及问题和癌症的访谈和访谈和访谈和访谈和访谈; （ii）验证自基线以来被诊断出的所有事件癌的报告； （iii）验证所有针对地区和国家死亡登记处的死亡报告； （iv）随着时间的推移，我们将继续保持和增强我们对队列参与者的保留。我们还将维护现有的生物测量存储库和信息学功能。目标2：继续分子表征该队列，以最大程度地提高信息并有效地促进多种类型的研究：（i）对自基线以来诊断出的所有诊断出的所有事件结肠直肠癌病例进行标准化病理审查； （ii）通过免疫组织化学，BRAF，K-RAS和MLH1启动子甲基化的亚键入入射结直肠癌肿瘤； （iii）基因分型，如有指示，是DNA不匹配修复基因和MYH中已知家族突变的参与者； （iv）所有尚未对GWAS发现和验证的16个SNP进行基因分型的参与者的基因分型。 AIM 3：通过以下其他临床和行为数据增强队列的增强：（i）自成立以来，收集和抽象有关基于人群的结直肠癌病例的治疗记录和复发数据，以及在所有事件的结直肠癌病例上，自从选定的中心以来基线的所有事件，这些中心都能够以成本效益的方式来完成此操作； （ii）在可能的高危参与者（即林奇综合征，X型和双牛携带者）时，从策略性地收集结肠镜检查和结肠息肉的病理报告； （iii）通过问卷收集额外的行为数据，以增强队列的保留，并促进CCFRC发现转化为临床或公共卫生实践。目标4：通过与更大的科学界的积极合作，继续扩大CCFRC及其资源的使用。