ROCKY MOUNTAIN CANCER GENETICS COALITION

落基山癌症遗传学联盟

• 批准号: 6173689
• 负责人: GERALDINE P MINEAU
• 金额: $ 93.43万
• 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/6173689
• 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)遗传的先天倾向 由APC和APC等基因的高外显性等位基因引起的特定癌症 BRCA1只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，更高的 百分比的个体可能由于等位基因的遗传而处于危险之中， 或等位基因的组合，单独显示出相对较低的 癌症的外显性。这使得分析关联的 遗传模式，定位基因座并识别特定基因 牵涉其中。现在需要大样本人口来测绘和识别 这些基因。我们建议成立一个财团，由 科罗拉多州、新墨西哥州和犹他州的大学，其主要目的将是 要招收研究人员并创建基础设施来支持这一点 癌症遗传学的下一代探索。一个 需要以人口为基础的方法来理解人口 未来发现的意义。州癌症登记处提供了一项 确定的适当途径。同样重要的是开发一种 研究为易患此病的个体丰富的群体。我们的方法， 因此，是确定有一个或多个亲属的个人 被诊断出患有特定的癌症。具体地说，我们初步建议 联系每个被诊断患有乳腺癌、前列腺癌或结直肠疾病的人 1998年和1999年的癌症并确定：1)他们是否愿意 参与和2)有一级亲属受到同样的影响 癌症。如果是这样，他们将被重新联系，并被要求提供更详细的信息 关于家族历史的信息，以及人口统计和 流行病学信息。选定的索引案例将被请求 完整的问卷，其中将包括他们的第一个学位的名字 亲属及其与这些亲属联系的许可。第一个学位 然后，将联系亲属并邀请他们登记为 癌症遗传学网络。这种方法将创造一个研究群体 曾患过癌症并有患癌症风险的家庭成员。我们会 还向已经联系过的适当个人提供注册 我们的高危诊所或参加正在进行的临床方案 家族性癌症；例如，科罗拉多州将延长他们目前的研究 通过收集肺部病例来获得兴趣。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 具备遗传咨询、信息学和数据库管理方面的能力。AS 注册学习小组，可能会收集DNA样本，并进行试点项目 启动；这些包括同胞配对研究和资助的候选基因分析 亨斯迈癌症研究所和科罗拉多大学癌症研究所 中心。