FAMILIAL COLORECTAL NEOPLASIA LINKED TO CHROMOSOME 9Q222-312

与染色体 9Q222-312 相关的家族性结直肠肿瘤

• 批准号: 7600986
• 负责人: GEORGIA L WIESNER
• 金额: $ 0.51万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-08-01 至 2008-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7600986
• 关键词: Accounting; Adenomatous Polyposis Coli; Adult; Affect; American; Cancer Etiology; Cessation of life; Chromosomes; Chromosomes, Human, Pair 9; Colon Carcinoma; Colorectal Cancer; Colorectal Neoplasms; Computer Retrieval of Information on Scientific Projects Database; Disease; Family history of; First Degree Relative; Funding; Genes; Genome Scan; Grant; Hereditary Nonpolyposis Colorectal Neoplasms; Individual; Inherited; Institution; Link; Microsatellite Repeats; Reporting; Research; Research Personnel; Resources; Siblings; Signal Transduction; Source; United States National Institutes of Health; kindred

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Colorectal cancer is the second most leading cause of cancer death among adult Americans. Two autosomal dominant hereditary forms of the disease, familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, together account for perhaps 5%of all cases. However, in about 20% of additional colon cancer cases,the affected individuals report a family history of colon cancer in a first-degree relative. Following a genome scan in 53 kindreds in which 2 or more sibling were affected by 65 with colon cancer, we performed finemapping on chromosomes 9 and 6 using densely spaced microsatellite markers. We further confirmed these signals in an additional 70 kindreds. Signal strength on chromosome 9 was increased by an order of magnitude. Additionally SNP typing has just been completed on this candidate region and several candiate genes. Evidence of association to this region has been identified and gene characterization is underway.

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 结直肠癌是美国成年人癌症死亡的第二大原因。两种常染色体显性遗传性疾病，家族性腺瘤性息肉病和遗传性非息肉病性结直肠癌，加在一起可能占所有病例的5%。然而，在大约20%的额外结肠癌病例中，受影响的个人报告了一级亲属的结肠癌家族史。在对53个家系进行基因组扫描后，其中两个或更多的兄弟姐妹受到65例结肠癌患者的影响，我们使用密集分布的微卫星标记在9号和6号染色体上进行了精细作图。我们在另外70个家系中进一步证实了这些信号。9号染色体上的信号强度增加了一个数量级。此外，该候选区域和几个候选基因的SNP分型工作刚刚完成。与该区域相关的证据已经确定，基因鉴定正在进行中。