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Minerva Ginecologica 2020 October;72(5):339-48

DOI: 10.23736/S0026-4784.20.04624-9

Copyright © 2020 EDIZIONI MINERVA MEDICA

language: English

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

Lucia MERLINO , Alessandra CHINÉ, Cecilia GALLI, Maria G. PICCIONI

Department of Maternal and Child Health and Urological Sciences, Umberto I Polyclinic Hospital, Sapienza University, Rome, Italy



INTRODUCTION: 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.
EVIDENCE ACQUISITION: 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-Müllerian hormone,” “female fertility,” “ovarian reserve” and “premature ovarian failure.”
EVIDENCE SYNTHESIS: 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 is not 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 risk-reducing 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.
CONCLUSIONS: 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: Anti-Müllerian hormone; Fertility agents, female; Ovarian reserve; Menopause, premature

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