AUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRY

描述（由申请人提供）： 这一澳大拉西亚中心特定提案的具体目标是更新 作为一个名为合作家庭的六个中心联盟的一部分， 结直肠癌登记研究（CFR）。CFR的目的是增加 结直肠癌家族根据协议，其中包括 生成生物样本（血液和肿瘤样本）库，以及 通过标准化流行病学调查获得的综合生活方式数据 调查问卷，以支持研究组内外的 CFR.为实现这一目标，在未来五年，我们将： 1.招募320例在研究前确诊的人群结直肠癌病例， 年龄50岁，不考虑家族史，和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.不向少数民族捐款。 3.对所有受试者进行随访活动（对照组和 对照组的亲属），同意在研究期间参与CFR 招募和数据收集的第一阶段（1997年7月至2002年7月），以及 作为所有将在续期的01至04年招募的新参与者， 在1.以上我们计划在最初的4年和6年后进行积极的随访 登记和年度被动后续行动，包括一份通讯。我们估计 我们的后续行动将涉及1,356个家庭的10,217人。 4.参与分子表征部分， 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、运送和追踪样本如下：556份DNA样本 测序，856个用于甲基化，126个样品用于GMP转换突变 分析. 5.维护生物样本库，包括血液样本和肿瘤样本 组织块和/或石蜡切片，并对经批准的样品请求作出回应。 6.保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研究者的质询，支持当地分析，以及 与信息学支持中心（ISC）协调活动。 7.建立和维护一个新鲜冷冻组织库， 诊断病例将包含30例结直肠癌或息肉的组织 每年从昆士兰州内接受治疗的受试者中获得。 8.进行试点研究，继续创新的分子和 贾斯教授和他的实验室的病理学工作，以进一步解开 遗传性结直肠癌的遗传异质性我们将使用 统计试点研究的结果，以开发分析机制 积累的数据，使采血和扩大家庭更多 高效、信息量大，为今后基因工程研究提供了更好的资源 的发现

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.