Hereditary colorectal cancer syndromes: diagnostic approach and management

Background Colorectal cancer (CRC) is the third most common cancer among men and women in Germany. Between 3 and 5% of all CRC cases are attributed to a well-defined inherited tumor predisposition syndrome (hereditary CRC). Materials and methods A summary of a selective literature search and our own work concerning hereditary CRC and gastrointestinal polyposis syndromes is provided. Results Hereditary CRC includes Lynch syndrome/hereditary nonpolyposis colon cancer (HNPCC), familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), and various hamartomatous polyposis syndromes (Peutz-Jeghers syndrome, juvenile polyposis, Cowden syndrome). These syndromes are caused by various germline mutations, which are often associated with an autosomal dominant inheritance and an unusual individual and/or familial tumor history due to a significantly increased risk of colorectal and other cancers. The etiology of the serrated polyposis syndrome (SPS) is largely unknown so far. Conclusions Identification of individuals at risk and the detection of relevant mutations by appropriate genetic testing are crucial to offer affected individuals a lifelong surveillance strategy addressed to the individual cancer risk. In addition to a repetitive screening colonoscopy this may also include other preventive interventions. For some hereditary syndromes, prophylactic surgery is a very efficient option to reduce the tumor risk.