. The overall objective of this renewal is to determine the genetic etiology and clinical characteristics of high risk familial colon cancer. High risk familial colon cancer accounts for 10 to 20% of colon cancer cases. It is defined when there are two first degree relatives with colon cancer or a single case diagnosed at an age <50 years. Family members in this situation are at three- to six-fold increased risk for colon cancer and special screening has been recommended. Some fraction of these high risk cases arise from hereditary non-polyposis colorectal cancer (HNPCC), familial adenomatous polyposis (FAP) or attenuated adenomatous polyposis coli (AAPC), but most do not. The fraction of high risk cases that arise from FAP, AAPC and HNPCC will first be determined by identifying all high risk cases in the Utah Population Data Base, a data base that combines Utah cancer and genealogy resources. Records and archival tissues will be used to find which of these high risk individuals has FAP (records) and which has HNPCC or AAPC (genetic diagnosis). High risk cases that do not have one of these syndromes will then serve as index cases to select a number of suitable kindreds for further study. Kindreds will be expanded and kindred members will undergo colonoscopy to define the polyp and cancer phenotype. Linkage analysis will then be done to identify new polyp and cancer susceptibility loci. A precise clinical and genetic definition of this high risk familial category is needed so that affected families can be accurately identified, screened and managed, and so that genetic screening and testing for the rare syndromes and for additional susceptibility loci can be applied widely in this group.

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National Cancer Institute (NCI)
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Epidemiology and Disease Control Subcommittee 2 (EDC)
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University of Utah
Internal Medicine/Medicine
Schools of Medicine
Salt Lake City
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Jewel Samadder, N; Valentine, John F; Guthery, Stephen et al. (2017) Colorectal Cancer in Inflammatory Bowel Diseases: A Population-Based Study in Utah. Dig Dis Sci 62:2126-2132
Samadder, N Jewel; Curtin, Karen; Pappas, Lisa et al. (2016) Risk of Incident Colorectal Cancer and Death After Colonoscopy: A Population-based Study in Utah. Clin Gastroenterol Hepatol 14:279-86.e1-2
Samadder, N Jewel; Smith, Ken Robert; Hanson, Heidi et al. (2016) Familial Risk in Patients With Carcinoma of Unknown Primary. JAMA Oncol 2:340-6
Samadder, N Jewel; Jasperson, Kory; Burt, Randall W (2015) Hereditary and common familial colorectal cancer: evidence for colorectal screening. Dig Dis Sci 60:734-47
Snow, A K; Tuohy, T M F; Sargent, N R et al. (2015) APC promoter 1B deletion in seven American families with familial adenomatous polyposis. Clin Genet 88:360-5
Samadder, N J; Smith, K R; Mineau, G P et al. (2015) Familial colorectal cancer risk by subsite of primary cancer: a population-based study in Utah. Aliment Pharmacol Ther 41:573-80
Samadder, N Jewel; Smith, Ken Robert; Hanson, Heidi et al. (2015) Increased Risk of Colorectal Cancer Among Family Members of All Ages, Regardless of Age of Index Case at Diagnosis. Clin Gastroenterol Hepatol 13:2305-11.e1-2
Tuohy, Thérèse M F; Rowe, Kerry G; Mineau, Geraldine P et al. (2014) Risk of colorectal cancer and adenomas in the families of patients with adenomas: a population-based study in Utah. Cancer 120:35-42
Samadder, N Jewel; Curtin, Karen; Wong, Jathine et al. (2014) Epidemiology and familial risk of synchronous and metachronous colorectal cancer: a population-based study in Utah. Clin Gastroenterol Hepatol 12:2078-84.e1-2
Samadder, N Jewel; Curtin, Karen; Tuohy, Thérèse M F et al. (2014) Characteristics of missed or interval colorectal cancer and patient survival: a population-based study. Gastroenterology 146:950-60

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