Clinical Management of Hereditary Colorectal Cancer

  • Kensuke KumamotoEmail author
  • Hideyuki Ishida


Lynch syndrome (LS) is an autosomal dominant inherited syndrome characterized by the development of early-onset colorectal cancer (CRC), endometrial cancer, and other cancers. Universal tumor screening for detection of LS in all CRC and endometrial cancer patients tends to be popular instead of use of conventional clinical guidelines. Immunohistochemistry of mismatch repair proteins appears to be favorable compared to microsatellite instability (MSI) testing in terms of identification of the causative gene. The surveillance for individuals with LS is established in CRC and gynecological cancer depending on the causative genes, while there are still no evidences in other LS-associated cancers. Among adenomatous polyposis syndrome, more than 100 polyps clinically come up with the diagnosis of familial adenomatous polyposis (FAP). If the number of polyps is less than 100, germline genetic testing of the APC, MUTYH, POLE, and POLD1 genes should be needed to make an accurate diagnosis. Early diagnosis and management is required due to complete penetrance and an almost 100% lifetime risk of CRC without intervention in FAP patients. In addition to CRC, the screening of duodenal cancer and desmoid tumors should be routinely performed to prevent the mortality.


Hereditary colorectal cancer Lynch syndrome Lynch-like syndrome Familial adenomatous polyposis (FAP) Microsatellite instability (MSI) 


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© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Department of Gastroenterological Surgery, Faculty of MedicineKagawa UniversityMiki-choJapan
  2. 2.Department of Digestive Tract and General Surgery, Saitama Medical CenterSaitama Medical UniversityKawagoeJapan

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