1. Hereditary and familial colon cancer.
- Author
-
Jasperson KW, Tuohy TM, Neklason DW, and Burt RW
- Subjects
- Adenomatous Polyposis Coli genetics, Animals, Colonic Neoplasms diagnosis, Colonic Neoplasms prevention & control, Colonic Neoplasms therapy, Colonoscopy, Colorectal Neoplasms, Hereditary Nonpolyposis genetics, Genetic Predisposition to Disease, Genetic Testing, Heredity, Humans, Mass Screening methods, Pedigree, Peutz-Jeghers Syndrome genetics, Phenotype, Predictive Value of Tests, Risk Assessment, Risk Factors, Colonic Neoplasms genetics, Gene Expression Regulation, Neoplastic
- Abstract
Between 2% to 5% of all colon cancers arise in the setting of well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, and certain hamartomatous polyposis conditions. Each is associated with a high risk of colon cancer. In addition to the syndromes, up to one-third of colon cancers exhibit increased familial risk, likely related to inheritance. A number of less penetrant, but possibly more frequent susceptibility genes have been identified for this level of inheritance. Clarification of predisposing genes allows for accurate risk assessment and more precise screening approaches. This review examines the colon cancer syndromes, their genetics and management, and also the common familial colon cancers with current genetic advances and screening guidelines.
- Published
- 2010
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