Reproductive Challenges in Mutated BRCA Gene Carriers: A Narrative Review

The Breast Cancer (BRCA) genes play an important role in repairing double-strand deoxyribonucleic acid (DNA) breaks. Mutations in these genes are associated with the development of malignancies, most notably breast and ovarian cancer. Carriers of these mutations are often faced with issues that have serious implications for their reproductive choices, including the occurrence and treatment of breast or ovarian cancer, recommendations for preventive mastectomy and salpingo-oophorectomy, and the risk of transmitting the BRCA gene mutation to an offspring. These issues often lead to the search for methods of fertility preservation or assisted reproduction. This review aims to highlight and explain all the ways in which BRCA gene mutations affect fertility in women. Specifically, the effect of BRCA carriage is assessed at the molecular, histological, clinical, and laboratory levels. Next, fertility preservation methods in carriers are analyzed and evaluated in terms of their safety and effectiveness. In addition, the effect of systemic therapies for breast cancer on ovarian reserves is explained. Finally, the possibility of preimplantation diagnosis of BRCA gene carriage is also examined.