Genetic testing in gastroenterology: Lynch syndrome

摘要: Lynch syndrome/Hereditary non-polyposis colorectal cancer is caused by inherited germline mutations in mismatch repair (MMR) genes, and accounts for 2–5% of cancers (CRC) . It characterized young onset CRC an increased risk gynaecologic, urinary tract gastrointestinal cancers. Family history evaluation crucial the early identification individuals at syndrome. Individuals whose family includes multiple relatives with cancer, two or more primary cancers, component tumours diagnosed a age, should undergo genetic Guidelines recommend initial tumour immunohistochemistry microsatellite instability testing followed MMR genes those abnormal results. Genetic test results can guide screening recommendations patients their families. However, are not always conclusive such cases be individualized on basis personal history.