BRCA Mutations, DNA Repair Deficiency and Ovarian Aging

open access

.....  We find that BRCA mutations negatively affect ovarian reserve based on convincing evidence from in vitro and in vivo evidence and prospective studies. Because decline in the function of the intact gene occurs at an earlier age, women with BRCA1 mutations exhibit accelerated ovarian aging unlike those with BRCA2 mutations. However, because of the still robust function of the intact allele in younger women and due to masking of most severe cases by prophylactic oophorectomy
or cancer, it is less likely to see an effect of BRCA mutations on fertility until later in
reproductive age......