AUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRY

描述(由申请人提供)： 这项针对澳大拉西亚中心的提案的具体目的是更新 作为名为合作家庭的六个中心财团的一部分开展的活动 结直肠癌登记(CFR)。CFR的目标是积累 根据一项包括 生成生物检疫库(血液和肿瘤样本)，以及 通过标准化流行病学获得全面的生活方式数据 问卷调查，以支持来自国内外团体的研究 CFR。为达致这个目标，我们会在未来五年： 1.招募320名在此之前诊断为结直肠癌的人群 50岁，不分家族史，250个以诊所为基础的家庭 至少三个案例，作为应计部分的一部分。 2.不对少数群体部分作出贡献。 3.对所有受试者进行跟踪活动(对照和 控制的亲属)，他们同意在 征聘和数据收集的第一阶段(1997年7月至2002年7月) 所有将在续期的01至04年招募的新参与者 1.上图。我们计划在最初的4年和6年后进行积极的随访 招生和年度被动跟踪，包括时事通讯。我们估计 我们的后续行动将涉及1,356个家庭的10,217人。 4.通过贡献力量参与分子表征部分 向GMP和参与的CFR实验室提供适当的样品。我们估计 我们将准备、运输和跟踪样本如下：556个DNA 测序，856个甲基化，126个样本GMP转换突变 分析。 5.维护包含血液样本和肿瘤的生物质谱库 块和/或石蜡切片，并对经批准的样品请求作出回应。 6.维持我们的生物信息学支持活动，以便我们能够应对 来自CFR和非CFR调查人员的查询，支持本地分析，以及 与信息学支持中心(ISC)协调活动。 7.开发和维护新选择的新鲜冷冻组织储存库 将包含30个结直肠癌或息肉组织的诊断病例 每年从昆士兰治疗的受试者那里获得。 8.进行先导研究，继续创新的分子和 Jass教授和他的实验室的病理学工作进一步揭开了 遗传性结直肠癌的遗传异质性。我们将使用 开发分析机制的统计试点研究的结果 积累的数据，使采血和家庭扩展更多 高效、信息丰富，为未来基因研究提供了更好的资源 发现号。

DESCRIPTION (provided by applicant): The specific aim of this Australasian center-specific proposal is to renew activities as part of a six-center consortium known as the Cooperative Family Registry(CFR) for colorectal cancer. The aim of the CFR is to accrue colorectal cancer families according to a protocol that includes the generation of a repository of biospecimens (blood and tumour samples),and comprehensive lifestyle data obtained through standardized epidemiologic questionnaires, so as to support research from groups within and outside the CFR. To achieve this, over the next five years we will: 1. Recruit 320 population-based colorectal cancer cases diagnosed before the age of 50, regardless of family history,and 250 clinic-based families with at least three cases, as part of the Accrual Component. 2. Not contribute to the Minorities Component. 3. Conduct follow-up activities with all subjects(except controls and relatives of controls)who consented to be participants in the CFR during the first phase of recruitment and data collection(July 1997 - July2002), as well as all new participants who will be recruited in Year 01 to 04 of the renewal in 1. above. We plan both active follow-up at 4 and 6 years after original enrolment, and annual passive follow-up, including a Newsletter. We estimate that our follow-up will involve 10,217 individuals in 1,356 families. 4. Participate in the Molecular Characterization Component by contributing appropriate samples to GMP and the participating CFR laboratories. We estimate that we will prepare, ship, and track samples as follows:556 for DNA sequencing,856 for methylation, and 126 samples for GMP conversion mutation analysis. 5. Maintain the biospecimens repository comprising blood samples and tumor blocks and/or paraffin sections and respond to approved requests for samples. 6. Maintain our bioinformatics support activities so that we can respond to queries from CFR and non-CFR investigators, support local analyses, and coordinate activities with the Informatics Support Center (ISC). 7. Develop and maintain a fresh frozen tissue repository on selected, newly diagnosed cases that will contain tissues from 30 colorectal cancers or polyps obtained per year from subjects treated within Queensland. 8. Conduct Pilot studies that will continue the innovative molecular and pathology work by Professor Jass and his laboratory to further unravel the genetic heterogeneity of hereditary colorectal cancer. We shall use the results of the statistical Pilot Study to develop the machinery for analyzing the accrued data, make blood collection and extension of families more efficient and informative, and provide a better resource for future gene discovery.