Impact of BRCA Genes Mutation on Gynecological Disorders: Beyond Oncological Risk

Objectives: This systematic review aims to assess the impact of mutations in the BRCA1 and BRCA2 genes on gynecological disorders beyond oncological risk, focusing on fertility and reproductive health. Theoretical Framework: While mutations in the BRCA1 and BRCA2 genes are widely recognized for their association with an increased risk of breast and ovarian cancer, recent studies suggest that these mutations also play a crucial role in ovarian reserve, menopausal age, and endocrine function. Method: The research followed PRISMA guidelines and included publications from 2010 to 2024 retrieved from PubMed. Six studies were selected, demonstrating the direct link between BRCA1 mutations and reduced ovarian reserve and premature ovarian aging. Results and Discussion: The findings indicate that BRCA1 mutations are associated with reduced ovarian reserve and premature ovarian aging, factors that may compromise fertility. These results highlight the need for proactive strategies such as reproductive monitoring and fertility preservation for women carrying these mutations. Implications of the Research: This review expands the understanding of the impacts of BRCA mutations on gynecological disorders, suggesting that women with these mutations should undergo comprehensive follow-up, not only for cancer prevention but also for reproductive care. Originality/Value: This study provides significant contributions to gynecological practice, emphasizing the importance of an integrated approach that considers both oncological risks and reproductive needs for women with BRCA mutations.