Genetic Markers and Predisposition to Endometrial Neoplasms: A Systematic Review

OBJECTIVE: To identify genetic markers and understand their influence on the predisposition to endometrial neoplasms. METHODS: A systematic review was conducted between June and July 2024, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline. The search was carried out in the Virtual Health Library using the descriptors “Endometrial Neoplasms” AND “Genetic Predisposition to Disease” AND “Heredity” and “Endometrial cancer” AND “Genetic markers.” Retrospective and prospective studies and randomized clinical trials were included. Study selection occurred after reading titles, abstracts, and full texts, followed by methodological analysis and assessment of risk of bias. RESULTS: Eighty articles were identified, of which seven met the eligibility criteria. Endometrial cancer predisposition was found to be influenced by genetic factors, particularly variants associated with DNA repair mechanisms, such as BRCA1, BRCA2, and mismatch repair (MMR) genes, frequently related to Lynch syndrome. These alterations are associated with a higher risk of disease, especially in high-grade tumors. Additionally, single nucleotide polymorphisms (SNPs) in genes involved in hormonal regulation also contribute to susceptibility to endometrial cancer. CONCLUSION: Genetic markers, including germline variants in BRCA1, BRCA2, and MMR genes, are associated with an increased risk of endometrial cancer. Identifying these alterations may support prevention strategies, genetic counseling, and personalized therapeutic approaches, reinforcing the importance of genetic investigation in the clinical management of the disease.