BRCA1 Mutation Effects on Fertility

The effect of BRCA mutations on breast cancer risk gets a fair bit of media attention, but getting less attention is the potential impacts of those genetic mutations beyond cancer risk. Scientists recently evaluated the possible effects of the BRCA1 genetic mutation on female fertility and found that BRCA1 mutation carriers have 25% lower concentrations of anti-Müllerian hormone (AMH) than non-carriers. AMH is a hormone that is considered a reliable marker of ovarian egg reserve. This relationship was not seen in BRCA2 mutation carriers.  The researchers concluded that their findings also raise the hypothesis that BRCA1 mutation carriers may have a higher than average risk of chemotherapy-induced menopause. The implications of this research are that women carrying the BRCA1 mutation should try to avoid delaying pregnancy until their late 30s or 40s, when fertility is also reduced with age. Read more here.


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