Hereditary Non-polyposis Colorectal Cancer: Prevention and Therapeutic Options
Lynch syndrome (LS), also known as hereditary non-polyposis colorectal cancer (HNPCC), is the most common hereditary colorectal cancer (CRC) syndrome. The first and foremost preventive measure is to identify patients with LS among CRC patients. This requires the screening of colorectal cancer through polymerase chain reaction-based microsatellite instability (MSI) testing or immunohistochemistry to look for a loss of expression of one of the mismatch repair (MMR) proteins and the referral of selected patients to genetic counseling. In LS patients, annual or biannual complete colonoscopy with chromoendoscopy is the only validated way to significantly reduce mortality related to CRC with the greatest quality-adjusted life expectancy benefit compared with prophylactic surgery. In the case of diagnosis of colonic cancer, a subtotal colectomy with an ileo-rectal anastomosis is recommended, in order to decrease the risk of metachronous CRC. However, segmental surgery can be discussed on an individual basis. Chemoprevention with aspirin seems to be efficient in decreasing colorectal cancer risk in LS, but the minimum effective dose and potential adverse events associated with long-term use are not yet known. The option of taking low-dose aspirin might be discussed with mutated gene carriers regarding the benefit and risks of the treatment.
KeywordsLynch syndrome HNPCC MMR genes Molecular screening Colorectal cancer Guidelines Endoscopic screening Chromoendoscopy Subtotal colectomy Aspirin Chemoprevention
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Conflict of Interest
Marion Dhooge, Romain Coriat, Sophie Grandjouan, Catherine Brezault, Johann Dreanic, and Stanislas Chaussade declare that they have no conflict of interest.
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