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The Colon Cancer Family Registry: Australasia

结肠癌家族登记处：澳大利亚

基本信息

批准号：
7923220
负责人：
JOHN L HOPPER
金额：
$ 155.81万
依托单位：
UNIVERSITY OF MELBOURNE
依托单位国家：
美国
项目类别：
财政年份：
2002
资助国家：
美国
起止时间：
2002-09-24 至 2012-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7923220
关键词：
Address Age Americas Asians Australasia Australia BRAF gene Back Biocompatible Materials Bioinformatics Biological Blood Blood specimen Budgets Cancer Family Cancer Patient Capital Cessation of life Cities Clinic Clinical Clinical Data Clinical Management Clinical Research Colon Colonoscopy Colorectal Colorectal Cancer Consent Country DNA Data Data Collection Defect Elements Environment Epidemiologic Studies Epidemiology Etiology Europe Family Family Cancer History Family Study Family history of Family-Based Registry Federal Government Female Funding Future Gastroenterologist Gene Mutation Genes Genetic Genetic Heterogeneity Genomics Genus Cola Germ-Line Mutation Greece Health Health Insurance Housing Image Immunohistochemistry Incidence Informed Consent Institutes Interdisciplinary Study International Ireland Italy Laboratories Laws Life Link MLH1 gene MSH2 gene MSH6 gene Malignant Neoplasms Medical Records Medical Research Methylation Minority Groups Mismatch Repair Molecular Molecular Genetics Mutation New Zealand Northern Europe Northern Territory Notification Oncologist Operative Surgical Procedures PMS2 gene Participant Pathology Pathology Report Penetrance Persons Phase Physicians Policies Population Prevention Principal Investigator Procedures Process Professional counselor Proteins Public Hospitals Quality Control Queensland Radiation therapy Recruitment Activity Recurrence Registries Relative (related person)Reporting Research Research Ethics Committees Research Infrastructure Research Personnel Resources Risk Factors Running Sampling Scientist Social Welfare Somatic Mutation Source Southern Europe Specimen Staging Strategic Planning Surgeon Syndrome Teleconferences Testing Tissues Treatment outcome United States Universities Update Validation Vital Status Voting Work base cancer statistics case control chemotherapy cohort colon cancer family registry colorectal cancer prevention cost data management data sharing ethnic disadvantage expectation experience follow-up gene discovery indexing male meetings member migration mutation carrier neoplasm registry operation population based proband programs prospective repository response tumor urban area

项目摘要

DESCRIPTION (provided by applicant): The Colon Cancer Family Registry - Australasia (CCFR-A) has made an important and substantial contribution to the Colorectal Cancer Family Registry (Colon CFR), an international resource for collaborative, interdisciplinary studies of the etiology, prevention, and clinical management of colorectal cancer (CRC). The CCFR-A has recruited almost 30% of participants and provided more than 60% of known mutation carriers. We recruited and obtained epidemiology information for 28,366 participants from 1,707 families, and collected 7,411 blood samples and 1,869 tumor specimens from 1,408 CRCs. We have demonstrated that Australia and New Zealand are excellent countries from which to recruit both population-based and clinic-based families. Standout qualities of the CCFR-A include the large number of participants per family (e.g. >8 bloods per clinic-based family), and high response rates in terms of biospecimens (blood, tissue), clinical data collection and follow-up. We have consistently performed close to or above expectation,, despite adverse currency fluctuations over Phase II. The CCFR-A performs high quality molecular and genetic characterization, and in Phase III will conduct all of the Colon CFR mutation testing for BRAF and PMS2 and perform the IHC work for Seattle and DSC consortium registries. We have been selected to be a major recruiter of families. The CCFR-A is an essential component of the Colon CFR. In accordance with the U24 mechanism and "Strategic Plan", our specific aims for Phase III are: 1. Expand 200 families already participating in the Colon CFR that are known, or expected to be identified during Phase III, to carry deleterious mutations in the mismatch repair (MMR) genes or the MYH gene. 2. Recruit 160 additional families, through Australian cancer family clinics, who are known to carry an MMR gene or MYH mutation or meet Amsterdam I and II criteria (including Type X families). 3. Conduct passive and active follow-up for 2,860 population-based and 3,263 clinic-based subjects. 4. Obtain clinical information for 333 Phase I probands on stage, treatment and outcomes. 5. Collaborate with and support the Molecular Characterization Core by dispatching biospecimens data, and conducting IHC work for two other CFR registries and testing for BRAF and PMS2 for entire Colon CFR. Maintain the biospecimens core, process and add to the core all new samples from subjects recruited in Phase III, and coordinate future efforts with the planned Central Repository. 7. Maintain the local bioinformatics core and coordinate efforts with the ISC. 8. Maintain the administrative core. We have shown we can accomplish these aims. In doing so will enhance the infrastructure of the Colon CFR, an outstanding resource for studies of the causes and prevention of CRC.

描述（由申请人提供）：澳大利亚结肠癌家族登记处（CCFR-A）为结直肠癌家族登记处（Colon CFR）做出了重要而实质性的贡献，Colon CFR是结直肠癌（CRC）病因学、预防和临床管理的跨学科合作研究的国际资源。CCFR-A招募了近30%的参与者，并提供了超过60%的已知突变携带者。我们招募并获得了来自1，707个家庭的28，366名参与者的流行病学信息，并从1，408个CRC中收集了7，411份血液样本和1，869份肿瘤标本。我们已经证明，澳大利亚和新西兰是招募基于人口和基于诊所的家庭的优秀国家。CCFR-A的突出特点包括每个家庭的参与人数众多（例如，每个诊所家庭>8份血液），以及生物标本（血液，组织），临床数据收集和随访方面的高应答率。尽管在第二阶段出现不利的汇率波动，我们的业绩一直接近或高于预期。CCFR-A进行高质量的分子和遗传表征，在III期将进行BRAF和PMS 2的所有结肠CFR突变检测，并为西雅图和DSC联盟登记研究进行IHC工作。我们被选为家庭的主要招募者。CCFR-A是Colon CFR的重要组成部分。根据U24机制和“战略计划”，我们第三阶段的具体目标是： 1.扩展200个已知或预计将被识别的已参与Colon CFR的家庭在III期，在错配修复（MMR）基因或MYH基因中携带有害突变。 2.通过澳大利亚癌症家庭诊所再招募160个已知携带MMR的家庭基因或MYH突变或符合阿姆斯特丹I和II标准（包括X型家族）。 3.对2,860例基于人群和3,263例基于临床的受试者进行被动和主动随访。 4.获取333名I期先证者的分期、治疗和结局的临床信息。 5.通过发送生物样本数据与分子表征核心合作并提供支持，以及为其他两个CFR登记研究开展IHC工作，并为整个Colon CFR进行BRAF和PMS 2检测。维护生物样本核心，处理并将招募的受试者的所有新样本添加到核心中第三阶段，并与计划中的中央资料库协调今后的工作。 7.维护本地生物信息学核心，并与ISC协调工作。 8.保持行政核心。我们已经证明我们能够实现这些目标。这样做将加强基础设施， Colon CFR是研究CRC病因和预防的优秀资源。