FAMILIAL COLORECTAL NEOPLASIA LINKED TO CHROMOSOME 9Q222-312

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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.