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Colorectal cancer prevention in Lynch Syndrome: current perspectives and future challenges

2025; Brazilian Journal of Development; Volume: 8; Issue: 1 Linguagem: Inglês

10.34119/bjhrv8n1-003

2595-6825

Leonardo José de Oliveira Marinho, Flaubert Sena de Medeiros Filho, Caroline Choptian Rodrigues Moreira, Antônio Alberto Lopes, Bruno Vieira, Annubia Freitas Maia, Matheus Corrêa Félix, Isaac Matheus Bezerra Gurgel, Hudson Paulinelly da Câmara Melo, Rodolfo de Oliveira Lobo, Vinícius Guedes Lima Bahia, Manoel A. M. Filho, Francisco Gabriel Mesquita Lima, Diana P. Sousa, J.S.R. Rocha, Helena Costa, Ivan Cruz, Samuel Carvalho Vasconcelos, Pedro Schmitt Martins Paiva Matos, Emanuel Cabral Costa,

Genetic factors in colorectal cancer

Background: Colorectal cancer (CRC) is a leading cause of cancer mortality globally, with Lynch Syndrome (LS) as one of the primary hereditary risk factors. LS, caused by mutations in mismatch repair (MMR) genes, significantly increases CRC risk, particularly through microsatellite instability. This review discusses the main preventive strategies for CRC in LS patients, focusing on pharmacological interventions, personalized surveillance, and modifiable risk factors. Methods: A systematic review of literature published from 2020 to 2024 was conducted using databases such as PubMed, Scopus, and Web of Science. Keywords included "Lynch Syndrome," "Colorectal Cancer," "Cancer Prevention," and "Genetic Screening." Studies were selected based on relevance, language, and focus on LS prevention. Results: Key strategies for CRC prevention in LS include frequent colonoscopic surveillance, aspirin-based chemoprevention, and lifestyle modifications. Evidence supports colonoscopies every 1-2 years, especially in MLH1 and MSH2 mutation carriers. Aspirin has shown promise in reducing CRC incidence, though optimal dosages remain debated. Emerging approaches such as immunotherapy and biomarker-based surveillance may offer personalized prevention. Conclusion: Effective prevention of CRC in LS requires a multifaceted approach, including high-quality surveillance, targeted pharmacological interventions, and emerging molecular techniques. Future research should focus on optimizing dosage strategies, identifying genetic markers for tailored prevention, and addressing the psychological impacts of genetic testing.