Clinical genetics of hereditary colorectal cancer

Abstract

Colorectal cancer (CRC) is a common disease, and approximately 25% of patients have a familial component. High-penetrance singlegene germline mutations conferring a true hereditary susceptibility account for around 5% to 6% of all cases. Lynch syndrome is the most common hereditary form of colorectal cancer. Much of the hereditary component in the remaining familial cases of CRC is likely polygenic, and many of the genetic changes involved are as yet unidentified. This article addresses the most clinically important CRC genetic syndromes.