domingo, 1 de diciembre de 2019

Use of Family History and Genetic Testing to Determine Risk of Colorectal Cancer. - PubMed - NCBI

2019 Nov 21. pii: S0016-5085(19)41585-0. doi: 10.1053/j.gastro.2019.11.029. [Epub ahead of print]

Use of Family History and Genetic Testing to Determine Risk of Colorectal Cancer.

Author information

1: Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY; Division of Digestive and Liver Diseases, Columbia University Medical Cancer and the Vagelos College of Physicians and Surgeons, New York, NY. Electronic address: Fk18@columbia.edu.
2: Division of Gastroenterology and Hepatology, Mayo Clinic, Scottsdale, AZ.
3: Department of Gastroenterology, University of Utah, Salt Lake City, UT; Emeritus Professor of Medicine, University of Utah, Salt Lake City, UT.

Abstract

Approximately 35% of patients with colorectal cancer (CRC) have a family history of the disease, due to genetic factors, common exposures, or both. Some families with a history of CRC carry genetic variants that cause CRC with high or moderate penetrance, but these account for only 5%-10% of CRC cases. Most families with a history of CRC and/or adenomas do not carry genetic variants associated with cancer syndromes-this is called common familial CRC. Our understanding of familial predisposition to CRC and cancer syndromes has increased rapidly due to advances in next-generation sequencing technologies. As a result, there has been a shift from genetic testing for specific inherited cancer syndromes, based on clinical criteria alone, to simultaneous testing of multiple genes for cancer-associated variants. We summarize current knowledge of common familial CRC, provide an update on syndromes associated with CRC (including the nonpolyposis and polyposis types), and review current recommendations for CRC screening and surveillance. We also provide an approach to genetic evaluation and testing in clinical practice. Determination of CRC risk based on family cancer history and results of genetic testing can provide a personalized approach to cancer screening and prevention, with optimal use of colonoscopy to effectively decrease CRC incidence and mortality.