Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6092785 | Gastroenterology | 2015 | 42 Pages |
Abstract
Colorectal cancer (CRC) remains the third most common cancer affecting men and women in the United States. Approximately one-third of CRCs are diagnosed in individuals who have family members also affected with the disease. Although the vast majority of colorectal neoplasms develop as a consequence of somatic genomic alterations arising in individual cells, approximately 5% of all CRCs arise in the setting of germline mutations in genes involved in key cellular processes. To date, multiple genes have been implicated in single-gene hereditary cancer syndromes, many of which are associated with increased risk for CRC, as well as other tumor types. This review outlines the clinical, pathologic, and genetic features of the hereditary cancer syndromes known to be associated with increased risk for CRC and delineates strategies for implementing genetic risk assessments in clinical settings.
Keywords
FAPPPAPJPSCIMPPJSHNPCCMMRMSICpG island methylator phenotypeFAP, Familial Adenomatous PolyposisGenetic testingMicrosatellite instabilitymismatch repairHereditary Non-Polyposis Colorectal CancerHereditary cancer syndromesPeutz-Jeghers syndromejuvenile polyposis syndromemapMUTYH-associated polyposisCancer Genetics
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Authors
Elena M. Stoffel, C. Richard Boland,