Hereditary colorectal cancer syndromes

Abstract

SUMMARY Colorectal cancer (CRC) is one of the most common malignancies and the second-leading cause of cancer death in both sexes in developed countries. Over the last 25 years, highly penetrant monogenic germline mutations that predispose to CRC and other digestive tumors have been identified, accounting for up to 5% of all CRC cases. Identification and characterization of these disorders have allowed modification of their natural history, with a substantial decrease in morbidity and mortality among high-risk patients. Recognizing hereditary CRC has also impacted predictive genetic testing and personalized medicine based on genomic information. This review summarizes the current knowledge on hereditary CRC regarding pathogenesis, clinical features, diagnostic evaluation and management recommendations.