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Minerva Ginecologica 2020 Aug 03

DOI: 10.23736/S0026-4784.20.04624-9


language: English

BRCA1/2 genes mutations, ovarian reserve and female reproductive outcomes: a systematic literature review

Lucia MERLINO , Alessandra CHINÉ, Cecilia GALLI, Maria Grazia PICCIONI

Department of Maternal and Child Health and Urological Sciences, Policlinico Umberto I, "Sapienza" University of Rome, Rome, Italy


BRCA1 and BRCA2 genes mutations seems to impact female fertility, in addition to increasing the risk of ovarian and breast cancer. Several studies had investigated this issue but data available are still controversial. In order to clarify the role of BRCA1 and BRCA2 mutations in female fertility and ovarian function we carried out a systematic review of the literature with the aim to establish a possible management’s strategy of these patients. A review of current literature regarding BRCA mutation (BRCAm) and fertility was conducted using the PubMed tool to select remarkable articles with the keywords ‘‘BRCA1/2 gene’, “BRCA1/2 mutation”, ‘‘anti-Mullerian hormone’’, ‘‘female fertility’’, ‘‘ovarian reserve’’ and ‘‘premature ovarian failure’’. In current literature there are controversial findings about the relation between BRCA genes mutations and lifespan of female reproductive age. Several studies showed an higher risk of premature ovarian insufficiency of BRCAs mutations carriers, according to lower serum AMH level, primordial follicle count, or fewer oocyte yield after ovarian stimulation; on the other hand more recent studies reported not significant differences in serum AMH level or in reproductive outcomes between mutated and non-mutated BRCA patients. For this reason, currently there isn’t a strict recommendation for routine evaluation of fertility in female carriers of BRCA mutations. Nevertheless, the strong advice to complete childbearing by age 40 and then to undergo a riskreducing salpingo-oophorectomy and the increased risk of infertility as a result of anticancer treatment in breast cancer BRCAm patients, make the issue of fertility and pregnancy planning in these women worthy of consideration. Therefore, a dedicated counseling to discuss these issues, eventually associated with a personalized assessment of serum AMH or antral follicle count in order to have a panoramic view of ovarian reserve, may be useful in the management of these patients.

KEY WORDS: BRCA1/2 mutation; Anti-Mullerian hormone; Female fertility; Ovarian reserve; Premature ovarian failure

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