Fertility in women with BRCA mutations: a case-control study

Fertil Steril. 2010 Apr;93(6):1805-8. doi: 10.1016/j.fertnstert.2008.12.052. Epub 2009 Feb 6.


Objective: To investigate whether or not fertility is reduced in women carrying mutations in the BRCA genes (BRCA1 and BRCA2), compared with noncarrier family members.

Design: Matched case-control study.

Setting: Academic.

Patient(s): A total of 2,254 BRCA carriers and 764 noncarrier controls who were from the same families as the carriers, but tested negative for the BRCA mutation.

Intervention(s): None.

Main outcome measure(s): History of fertility problems (yes/no) and prior use of fertility medications (yes/no) in cases and controls, obtained through administered questionnaire.

Result(s): There was no difference in mean parity between carriers (1.9) and noncarriers (1.9).

Conclusion(s): This study, which is the first epidemiologic study to specifically investigate the effect of carrying a BRCA mutation on parity and fertility, suggests that there is likely little or no effect of the BRCA gene mutation on fertility. To our knowledge previous epidemiologic studies have not investigated the effect of carrying a BRCA mutation on parity or fertility. However, we expect that if fertility differences exist, they would be toward the limits of reproductive life, thus larger studies with age-stratified analyses are needed to definitively answer this question.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • Contraceptives, Oral / therapeutic use
  • Female
  • Fertility / genetics
  • Fertility / physiology*
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Heterozygote
  • Humans
  • Mutation / physiology*
  • Parity
  • Pregnancy
  • Reproductive History
  • Young Adult


  • Contraceptives, Oral