IPD meta-analysis of assocation of germline BRCA pathogenic variant with diminished ovarian reserve

DNA repair deficiency is emerging as a joint mechanism for breast cancer and reproductive aging. An individual patient data meta-analysis investigated the association of germline BRCA pathogenic variants and ovarian reserve. After adjustments, women with germline BRCA1/2 pathogenic variants had 23% lower serum AMH levels compared with controls (p=0.02). The difference was significant for gBRCA1 PVs (-33%; p=0.004) but not for gBRCA2 PVs (-7%; p=0.64).