The Colon Cancer Family Registry: Ontario

结肠癌家族登记处：安大略省

基本信息

批准号：
7691398
负责人：
STEVEN GALLINGER
金额：
$ 110.68万
依托单位：
CANCER CARE ONTARIO
依托单位国家：
美国
项目类别：
财政年份：
1997
资助国家：
美国
起止时间：
1997-09-30 至 2012-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7691398
关键词：
8q24 Adjuvant Australia BRAF gene Bioinformatics Blood specimen Budgets Canada Cancer Etiology Chemoprevention Chromosome Mapping Clinic Clinical Management Clinical Research Colon Colonoscopy Colorectal Cancer Communities Consent Cooperative Family Registry Data Defect Diagnostic Neoplasm Staging Disease Elements Etiology Family Family Cancer History Family history of Family-Based Registry Fostering Freezing Funding Future Gene Mutation Genes Genetic Markers Genomics Genus Cola Germ-Line Mutation Health Services Research Hereditary Nonpolyposis Colorectal Neoplasms Hospitals Immunohistochemistry Informatics Informed Consent Laboratories MLH1 gene MSH2 gene MSH6 gene Malignant Neoplasms Malignant neoplasm of gastrointestinal tract Medical Records Medical Research Mismatch Repair Molecular Mutation Neoadjuvant Therapy Ontario Participant Pathology Report Penetrance Persons Pharmacogenomics Phase Policies Population Control Predisposition Prevention Procedures Province Psychosocial Assessment and Care Public Health Quality Control Queensland Recruitment Activity Registries Relative (related person)Research Research Ethics Committees Research Infrastructure Research Institute Research Personnel Resources Risk Factors Sampling Scientist Serum Site Somatic Mutation Staging Teleconferences Testing Update Vital Status base case control clinically relevant colon cancer family registry colorectal cancer registry cost data management data sharing epidemiologic data follow-up genome wide association study high risk meetings member mutation carrier neoplasm registry novel palliative chemotherapy population based proband psychosocial repository tumor

项目摘要

DESCRIPTION (provided by applicant): The Ontario Familial Colorectal Cancer Registry (OFCCR) is a productive member of the multinational six site Colon Cooperative Family Registries (Colon CFR). During Phases I and II (1997-2007), the OFCCR registered population based subjects, with family history data, epidemiologic risk factor data, dietary data, and biospecimens (blood, serum, tumor blocks) for over 4,800 incident colorectal cancer (CRC) cases, their 4,000 relatives, as well as similar data for over 1,900 controls from the province of Ontario, Canada. The OFCCR has contributed approximately one-quarter of all CFR cases, and half the CFR-wide population controls. The OFCCR biospecimen repository (BSR) at Mount Sinai Hospital (MSH) in Toronto maintains and distributes to the scientific community genomic germline DMA from OFCCR cases and controls, all of which have been EBV transformed to protect this valuable resource. During Phase II, the OFCCR recruited additional high risk families from the clinic-based Familial Gastrointestinal Cancer Registry at MSH; 75 germline mismatch repair (MMR) gene mutation carriers and their relatives are now available for penetrance, epidemiologic, chemoprevention, psychosocial, and other research aimed at understanding familial and sporadic CRC. The OFCCR also contributed to the CFR, over 200 fresh frozen tumor samples, with annotated family history, epidemiologic and clinicopathologic data. Other unique contributions of the OFCCR to the Colon CFR include; germline MYH mutation testing of all Colon CFR cases and controls and the first genome wide association study in CRC that identified 8q24 SNPs that predict CRC susceptibility. In the current application (Phase III), the OFCCR proposes to continue as an active registry of the Colon CFR with the following Specific Aims: 1) expanding OFCCR families with MMR gene mutations, 2) recruiting additional high risk families from across Canada, 3) maintaining contact and follow-up of over 5,000 participants, 4) obtaining clinicopathologic and first treatment data on Phase I, II and III cases, 5) collaborating with the Colon CFR in molecular characterization of about 2,900 OFCCR cases (OFCCR will continue to test Colon CFR cases for MYH mutations), 6) adding to, and maintaining the OFCCR BSR and coordinating future efforts with the Colon CFR Central Repository, 7) maintaining the OFCCR bioinformatics core and coordinating efforts with RTI, the Informatics Center for the Colon CFR, 8) maintaining the OFCCR administrative core and contributing to the continued administrative efforts of the Colon CFR. The Colon CFR is the largest resource of its kind worldwide. Public health contributions of the OFCCR and the Colon CFR in general are far reaching including; providing a better understanding of susceptibility to CRC, identifying novel genetic markers of this disease, characterizing gene x gene and gene x environmental associations, and fostering clinicopathologic and psychosocial studies.

描述（由申请人提供）：安大略族家族性结直肠癌注册中心（OFCCR）是跨国六个站点结肠合作家庭注册表（Colon CFR）的生产成员。在第I和II阶段（1997-2007）期间，OFCCR注册的受试者，具有家族史数据，流行病学风险因素数据，饮食数据和生物疾病（血液，血清，肿瘤，肿瘤障碍），超过4,800多个入射结直肠癌（CRC），其4,000个亲戚以及超过1,900对照的相似数据，以及cancase cancase cassince ofs cassince，以及类似的数据。 OFCCR在所有CFR病例中贡献了大约四分之一，而CFR范围内的人口对照的一半。多伦多西奈山医院（MSH）的OFCCR Biospececimen仓库（BSR）从OFCCR案例和对照组中维持并分发给科学界的基因组生殖线DMA，所有这些DMA已转化为保护这一宝贵资源。在第二阶段，OFCCR从MSH的基于诊所的家族性胃肠道癌注册中招募了更多的高风险家庭； 75种系不匹配修复（MMR）基因突变携带者及其亲戚现在可用于外渗，流行病学，化学预防，心理社会和其他旨在了解家庭和零星CRC的研究。 OFCCR还为CFR提供了200多个新鲜的冷冻肿瘤样品，并具有带注释的家族史，流行病学和临床病理学数据。 OFCCR对结肠CFR的其他独特贡献包括：所有结肠CFR病例和对照组的生殖线MYH突变测试以及CRC中的第一项基因组范围的关联研究，该研究鉴定出预测CRC敏感性的8q24 SNP。 In the current application (Phase III), the OFCCR proposes to continue as an active registry of the Colon CFR with the following Specific Aims: 1) expanding OFCCR families with MMR gene mutations, 2) recruiting additional high risk families from across Canada, 3) maintaining contact and follow-up of over 5,000 participants, 4) obtaining clinicopathologic and first treatment data on Phase I, II and III cases, 5) collaborating with the Colon CFR in分子表征约2,900例OFCCR病例（OFCCR将继续测试结肠CFR病例MYH突变），6），增加并维持OFCCR BSR并维持OFCCR BSR，并协调与结肠CFR中央仓库的未来努力，7）7）维持CORCCR生物信息的努力，并在RTI中保持colorics CORTIC的努力，以实现colonics CORDICER，以实现Colonics CORMISTISS CORNAICS CORTINES，以中心为中心，以中心为中心，cronics Cermants Cermants Cermant Cornative coronics Cermant Cermations Cermation contronics CERMENT corronics CEMMENT corronics CEMMER，并为结肠CFR的持续行政努力做出了贡献。结肠CFR是全球范围内最大的资源。一般而言，OFCCR和CRON CFR的公共卫生贡献已经到达包括：可以更好地理解对CRC的敏感性，鉴定出这种疾病的新遗传标记，表征基因X基因和基因X环境关联，并促进临床病理学和社会心理研究。