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）：结肠癌家庭注册表 - 大洋洲（CCFR -A）为结直肠癌家族登记册（Colon CFR）做出了重要而实质性的贡献，这是一种关于病因学，预防和临床临床管理的国际协作，跨学科研究的资源。 CCFR-A招募了近30％的参与者，并提供了60％以上已知的突变载体。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收集了7,411个血液样本和1,869个肿瘤标本。我们已经证明，澳大利亚和新西兰是招募基于人群和基于诊所的家庭的好国家。 CCFR-A的出色质量包括每个家族的大量参与者（例如，每个临床家庭的血液> 8个血液），以及在生物测量（血液，组织），临床数据收集和随访方面的高反应率。尽管对II期的不利货币波动不利，但我们一直在附近或高于预期。 CCFR-A执行高质量的分子和遗传表征，在第三阶段将对BRAF和PMS2进行所有结肠CFR突变测试，并为西雅图和DSC财团注册表执行IHC工作。我们被选为家庭的主要招聘人员。 CCFR-A是结肠CFR的重要组成部分。根据U24机制和“战略计划”，我们对第三阶段的具体目标是： 1。扩大已经参加已知或预期的结肠CFR的200个家庭在III期期间，在不匹配修复（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招募160个家庭，众所周知携带MMR 基因或MYH突变或符合阿姆斯特丹I和II标准（包括X型家庭）。 3。对2,860个基于人群和3,263名诊所受试者进行被动和主动随访。 4。在舞台，治疗和结果上获取333阶段概率的临床信息。 5。通过派遣生物测量数据和为其他两个CFR注册机构进行IHC工作，并对BRAF和PMS2进行整个CFR的测试。维护生物测量核心，过程并添加到核心中的所有新样本中第三阶段，并与计划的中央存储库协调未来的努力。 7.维持局部生物信息学核心并与ISC协调努力。 8。维护行政核心。我们已经表明我们可以实现这些目标。这样做将增强 COLON CFR，是研究CRC原因和预防CRC的出色资源。