ROCKY MOUNTAIN CANCER GENETICS COALITION

落基山癌症遗传学联盟

• 批准号: 6602363
• 负责人: GERALDINE P MINEAU
• 金额: $ 0.78万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-08-01 至 2003-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6602363
• 关键词: breast neoplasms; cancer information system; cancer registry /resource; clinical research; colorectal neoplasms; cooperative study; data management; family genetics; gene expression; genetic counseling; genetic mapping; genetic susceptibility; human genetic material tag; human subject; neoplasm /cancer epidemiology; neoplasm /cancer genetics; prostate neoplasms; questionnaires

DESCRIPTION: (Applicant's Description) Inherited predispositions to specific cancers due to high penetrance alleles of genes such as APC and BRCA1 account for only a small percentage of our populations cancer burden. Genetic epidemiological evidence suggests, however, that a much higher percentage of individuals may be at risk due to the inheritance of alleles, or combinations of alleles, that individually show only a relatively low cancer penetrance. This makes it difficult to analyze the associated patterns of inheritance, localize the loci and identify the specific genes involved. Large sample populations are now required to map and identify these genes. We propose establishing a consortium consisting of the Universities of Colorado, New Mexico and Utah whose primary purpose will be to enroll a study population and create an infrastructure to support this next generation of exploration of the genetics of cancer. A population-based approach is needed to understand the population significance of future findings. State cancer registries provide an appropriate avenue of ascertainment. It is also important to develop a study population enriched for predisposed individuals. Our approach, therefore, is to ascertain individuals with one or more relatives who have been diagnosed with the specific cancer. Specifically, we propose initially to contact each individual diagnosed with breast, prostate, or colorectal cancer in calendar 1998 and 1999 and determine: 1) whether they are willing to participate and 2) have first-degree relatives affected with their same cancer. If so, they will be recontacted and asked to provide more detailed information regarding family history, as well as demographic and epidemiologic information. Selected index cases will be requested to complete questionnaires, which will include the names of their first-degree relatives and their permission to contact these relatives. The first-degree relatives will then be contacted and invited to enroll as members of the Cancer Genetics Network. This approach will create a study population of family members who have had cancer and who are at risk for cancer. We will also offer enrollment to appropriate individuals who have already contacted our high-risk clinics or are enrolled in ongoing clinical protocols of familial cancer; for example, Colorado will extend their current research interests by collecting lung cases. In addition, we will establish or enhance clinical and laboratory core facilities, as well as the necessary capabilities in genetic counseling, informatics and database management. As study groups are enrolled, DNA samples may be collected and pilot projects initiated; these include sib-pair studies and candidate-gene analysis funded by the Huntsman Cancer Institute and the University of Colorado Cancer Center.

描述：（申请人的描述）遗传倾向 由于基因的高外显率等位基因（例如 APC 和 BRCA1 仅占我们人口癌症负担的一小部分。 然而，遗传流行病学证据表明， 由于等位基因的遗传，可能面临风险的个体百分比， 或等位基因的组合，单独显示出相对较低的 癌症外显率。 这使得分析相关的 遗传模式、定位基因座并识别特定基因 涉及。 现在需要大量样本人群来绘制和识别 这些基因。 我们建议建立一个由以下人员组成的联盟 科罗拉多州、新墨西哥州和犹他州的大学，其主要目的是 招募研究人群并创建基础设施来支持这一点 下一代癌症遗传学探索。 一个 需要基于人群的方法来了解人群 未来研究结果的意义。 国家癌症登记处提供 适当的确定途径。 开发一个 研究人群针对易感人群进行了丰富。 我们的方法， 因此，就是要确定有一名或多名亲属的个人 被诊断患有特定癌症。 具体来说，我们最初建议 联系每个被诊断患有乳腺癌、前列腺癌或结直肠癌的人 1998 年和 1999 年患癌症并确定：1）他们是否愿意 参与并且 2) 有受到同样影响的一级亲属 癌症。 如果是这样，我们将重新联系他们并要求提供更详细的信息 有关家族史以及人口统计和 流行病学信息。 选定的索引案例将被要求 填写调查问卷，其中包括其第一学位的姓名 亲属及其联系这些亲属的许可。 一级 然后将联系亲属并邀请其注册成为成员 癌症遗传学网络。 这种方法将创建一个研究群体 患有癌症和有患癌症风险的家庭成员。 我们将 还为已经联系过的合适个人提供注册服务 我们的高风险诊所或正在参加正在进行的临床方案 家族性癌症；例如，科罗拉多州将扩展他们当前的研究 通过收集肺部病例产生兴趣。 此外，我们将建立或 加强临床和实验室核心设施以及必要的 遗传咨询、信息学和数据库管理方面的能力。 作为 注册研究小组，收集 DNA 样本并开展试点项目 发起；其中包括资助的同胞对研究和候选基因分析 由亨斯曼癌症研究所和科罗拉多大学癌症研究所 中心。