[Should a systematic fertility preservation be proposed to healthy women carrying a BRCA1/2 mutation?]

Gynecol Obstet Fertil. 2015 Dec;43(12):800-5. doi: 10.1016/j.gyobfe.2015.09.012. Epub 2015 Oct 18.
[Article in French]


Should all women with BRCA1 or BRCA2 genes mutations be considered at risk of prematurely impaired fertility, and thus should a fertility preservation systematically be proposed? Women carrying mutations of BRCA1 or BRCA2 are at high risk for breast and tubo-ovarian cancer. The treatment of a breast cancer at a young age, unrare in this population, is associated with a risk of infertility, due to the ovarian toxicity of chemotherapy, to the recommended duration of hormonotherapy when indicated, and to the time advised before starting a pregnancy. Furthermore, some data in the literature suggest a higher risk of premature ovarian failure among women with BRCA1/2 mutation: advance of the age at menopause and poorer response to ovarian stimulation have been observed. Several pathophysiological hypotheses support this finding, as the involvement of the BRCA genes in maintaining telomere length, the DNA repair anomalies promoting oocyte apoptosis, differences in FMR1 genotype. Current fertility preservation techniques have limitations, some of them being specific to BRCA1/2 women: absence of oncological risk due to stimulation in BRCA1/2 women not clearly demonstrated, oocyte vitrification techniques limited rentability, graft of ovarian cortex not suitable in these women at high risk. Thus, data on the increased risk of premature ovarian failure remaining weak, such a systematic proposal seems questionable.

Keywords: BRCA1/2 mutation; Fertility preservation; Menopause; Mutation BRCA1/2; Ménopause; Ovarian reserve; Préservation de la fertilité; Réserve ovarienne.

MeSH terms

  • BRCA2 Protein / genetics*
  • Breast Neoplasms / genetics
  • Breast Neoplasms / therapy
  • Female
  • Fertility Preservation* / methods
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Infertility / etiology
  • Mutation*
  • Pregnancy
  • Primary Ovarian Insufficiency / complications
  • Primary Ovarian Insufficiency / genetics
  • Telomere Homeostasis / genetics
  • Ubiquitin-Protein Ligases / genetics*


  • BRCA2 Protein
  • BRCA2 protein, human
  • BRAP protein, human
  • Ubiquitin-Protein Ligases