Women with BRCA1 or BRCA2 genes mutations could have an increased risk of prematurely impaired fertility and premature ovarian failure. Theoretically, several patho-physiological hypotheses support this finding, as well as the involvement of the BRCA genes in maintaining telomere length and the DNA repair anomalies promoting oocyte apoptosis. Advance of age at menopause and poorer response to ovarian stimulation have also been observed, but data on the increased risk of infertility remain weak and questionable.

Furthermore, the high risk for breast and tubo-ovarian cancers increase the risk of infertility, due to surgery, to the ovarian toxicity of chemotherapy, to the long duration of hormone therapy when indicated, and to the waiting time advised before pregnancy. Current fertility preservation techniques have limitations, some of them being specific to BRCA1/2 women: the oncological risk due to stimulation in BRCA1/2 women has not been completely investigated and ovarian cortical transplantation might not be suitable for the high risk of developing ovarian cancer. Some key points about fertility are reviewed in this article to help clinicians discussing these issues with patients carrying a BRCA1/2 mutation.