BRCA1 and BRCA2 mutations and female fertility

Curr Opin Obstet Gynecol. 2013 Jun;25(3):207-13. doi: 10.1097/GCO.0b013e32835f1731.


Purpose of review: To review recent publications examining BRCA1 and BRCA2 mutations and their relationship with female fertility.

Recent findings: Eight relevant studies of female fertility, five of which were published since January 2010 and the remainder in the preceding decade. Several mechanisms suggest that reproduction will be adversely affected among BRCA1/2 mutation carriers, with one study finding lower oocyte production, another reporting fewer births, and a third showing lower rates of pregnancies. Four articles reported no significant difference in the number of children ever born between carriers and noncarriers whereas a 2012 study showed elevated natural fertility among mutation carriers.

Summary: This review shows that for most articles there are adverse or no fertility effects of being a BRCA1/2 mutation carrier. When no differences were detected for children-ever-born, those studies relied on current populations in which women had access to contraception. The sole analysis reporting elevated fertility was based on an historic population in which family planning methods were unavailable. Predictions that BRCA1/2 mutations adversely affect embryogenesis and genome integrity were not supported. The idea that BRCA1/2 mutations have antagonistic pleiotropic effects (enhancing fertility while reducing survival) was supported in the natural fertility study.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Breast Neoplasms / genetics*
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Carrier Screening
  • Genetic Pleiotropy
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Infertility, Female / diagnosis
  • Infertility, Female / genetics*
  • Mutation*
  • Oocytes
  • Ovarian Neoplasms / genetics*
  • Pregnancy
  • Pregnancy Rate
  • Risk Factors