Lynch Syndrome - Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

Cancer research · Colorectal cancer

Lynch syndrome is an inherited cancer syndrome caused by pathogenic variants in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or EPCAM, predisposing individuals to colorectal, endometrial, gastric, ovarian, and other cancers.

Lynch syndrome is an inherited disorder caused by pathogenic variants in DNA mismatch‑repair genes (MLH1, MSH2, MSH6, PMS2) or EPCAM. It increases risk for colorectal, endometrial, gastric, ovarian and other cancers. Universal screening of colorectal and endometrial tumors by immunohistochemistry or microsatellite instability testing is recommended, followed by germline genetic testing when indicated.

Early identification of Lynch syndrome carriers allows risk‑reducing interventions and surveillance, significantly lowering morbidity and mortality associated with associated cancers.

Evidence level: Korai humán adat. Kis vagy feltáró emberi adat.

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