Association between BRCA 1, BRCA 2 and Ovarian Reserve: Current Evidence and Future Possibilities via a Review of the Literature

Author(s): Nikolettos Konstantinos, Damaskos Christos, Garmpis Nikolaos, Panagiotis Tsikouras, Zervoudis Stefanos, Iatrakis Georgios, Nikolettos Nikolaos

A great amount of studies had shown already that BRCA 1 and BRCA 2 mutations are related with breast and ovarian cancer. BRCA1 plays an important role in maintaining genome integrity, at least in part, through its roles in DNA damage repair. DNA damage can happen in both single-strand DNA breaks and double-strand DNA breaks (DSBs). Because DSBs can affect both copies of a gene, they can result in mutagenesis, carcinogenesis, cell senescence, or apoptotic cell death. BRCA1 and BRCA2 genes belong to the family of ataxia-telangiectasia-mutated (ATM)-mediated DNA DSB repair genes. It plays a critical role in the safeguarding of DNA integrity. Some studies showed that DSBs accumulate with age and contribute to reproductive aging in mice and women. It was observed that females with BRCA mutations, undergoing fertility preservation, have lower response rates to ovarian stimulation. Furthermore, some studies came to the conclusion that females with BRCA mutations may have earlier menopause compared with non-carriers. The results vary and we cannot have a solid answer if BRCA1 and BRCA2 mutations play a significant role in the ovarian reserve. The majority of the studies with sufficient sample size and/or which are prospective in nature, supports that ovarian reserve is decreased in women with BRCA1 mutations, although not all the studies agreed with this conclusion. The aim of this work is to review the literature pertaining to this issue.

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