The Colon Cancer Family Registry: Australasia

描述(由申请者提供)：澳大利亚结肠癌家庭登记中心(CCFR-A)为结直肠癌家庭登记中心(Colon CFR)做出了重要和实质性的贡献，这是一个关于结直肠癌(CRC)病因、预防和临床处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。我们招募了来自1,707个家庭的28,366名参与者并获得了流行病学信息，并从1,408个癌组织中收集了7,411份血液样本和1,869份肿瘤样本。我们已经证明，澳大利亚和新西兰是招募以人口为基础和以诊所为基础的家庭的优秀国家。CCFR-A的突出特点包括每个家庭的大量参与者(例如，每个临床家庭8个血液)，以及在生物检疫(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了不利的汇率波动，但我们的表现一直接近或高于预期。CCFR-A进行了高质量的分子和基因表征，在第三阶段将进行所有BRAF和PMS2的结肠CFR突变测试，并为西雅图和DSC财团注册执行IHC工作。我们被选为家庭招聘的主要机构。CCFR-A是科隆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个已参与科隆CFR的家庭，这些家庭已知或预计将被确定 在第三阶段，携带有害的错配修复(MMR)基因或MYH基因突变。 2.通过澳大利亚癌症家庭诊所招募另外160个家庭，这些家庭已知携带MMR 基因或MYH突变或符合阿姆斯特丹I和II标准(包括X型家系)。 3.对2860名以人口为基础的受试者和3263名以诊所为基础的受试者进行被动和主动的后续行动。 4.获取333例I期先证者的分期、治疗和转归的临床信息。 5.通过发送生物样品数据，与分子表征核心合作并提供支持，以及 为另外两个CFR注册处进行IHC工作，并对整个科隆CFR的BRAF和PMS2进行测试。 维护生物检疫核心，处理所有新样本，并将其添加到核心中 第三阶段，并与计划中的中央储存库协调今后的工作。 7.维护当地生物信息学核心，并与ISC协调努力。 8.维护行政核心。 我们已经证明，我们可以实现这些目标。这样做将加强香港的基础设施 结肠CFR，研究结直肠癌的原因和预防的优秀资源。

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.