Effects of BRCA gene mutation on female reproductive potential: A systematic review

Mutation of BRCA genes significantly increases the lifetime risk of breast, ovarian, fallopian tube and primary peritoneal cancers. In addition to the increased risk of these multiple malignancies, the recent literature suggests that mutations in BRCA genes may lead to decreased reproductive potential. In this systematic review, we focus on the effect of BRCA gene mutation on reproductive potential. The main outcomes included the rate of nulliparity, ovarian reserve, ovarian response, and the age at natural menopause. A total of 23 observational studies were included for quality analysis. The certainty of evidence was low to moderate: the main limitations were imprecision and statistically significant heterogeneity. Meta-analysis suggested that the rate of nulliparity, serum anti-müllerian hormone levels, antral follicle counts and ovarian response were not significantly affected in BRCA gene mutation carriers (P > 0.05). BRCA gene mutation carriers tended to have a lower number of primordial follicles (P = 0.0002) and lower age at natural menopause than non-carriers. In conclusion, there is no compelling evidence indicating that the rate of nulliparity, serum AMH, antral follicle counts and ovarian response are affected in BRCA mutation carriers.