ĐẶC ĐIỂM PHẢ HỆ CÁC TRƯỜNG HỢP MẮC HỘI CHỨNG LYNCH

Abstract

Lynch syndrome is a hereditary disorder that increases the risk of various cancers, particularly colorectal cancer, endometrial cancer, and several other types. It is primarily caused by mutations in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, PMS2, and EPCAM. Identifying cases of Lynch syndrome is crucial for cancer screening, genetic counseling, and prevention in both patients and their relatives. This study describes eight cases of individuals diagnosed with Lynch syndrome through genetic testing that detected mutations in MMR genes. Among the eight cases, the mutated genes identified were: MLH1 in 4 cases, MSH2 in 1 case, PMS2 in 2 cases, and EPCAM in 1 case. All eight patients had at least one first- or second-degree relative who had cancer or died prematurely from the disease. The pedigree characteristics showed a recurrence of cancer across generations within families or multiple family members being diagnosed with cancer. Lynch syndrome is clearly reflected in family cancer history and can be confirmed through MMR gene testing. Early detection of individuals carrying MMR mutations enables timely intervention, improves treatment outcomes, and enhances cancer screening for both patients and their relatives. It is recommended that genetic testing be extended to family members of affected individuals to help prevent and detect cancer at an early stage