Abstract

Lynch syndrome is the most common hereditary colorectal cancer (CRC) syndrome, caused by germline mutations in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, and PMS2. Individuals with Lynch syndrome have a significantly increased lifetime risk of colorectal cancer and other malignancies, necessitating early detection and targeted prevention strategies. Regular surveillance through colonoscopy every 1–2 years has been shown to reduce CRC incidence and mortality by detecting precancerous lesions at an early stage. Additionally, aspirin chemoprevention has demonstrated efficacy in reducing CRC risk in Lynch syndrome carriers. Prophylactic surgical options, such as subtotal colectomy, may be considered for high-risk individuals. Advances in genetic testing, risk stratification, and molecular diagnostics have further improved screening programs, enabling personalized prevention strategies. Despite these advancements, challenges remain in optimizing screening adherence, increasing awareness, and addressing disparities in genetic counseling and testing access. Future research should focus on refining precision medicine approaches and integrating novel biomarkers for enhanced surveillance and risk reduction in Lynch syndromeassociated colorectal cancer.