BRCA mutations and reproduction

Fertil Steril. 2018 Jan;109(1):33-38. doi: 10.1016/j.fertnstert.2017.12.004.

Abstract

Deleterious mutations in BRCA1 or BRCA2 genes have long been recognized as independent risk factors, mostly for breast and ovarian cancer. Numerous studies have evaluated the molecular processes involving these genes, the pathophysiology of BRCAness, follow up options and modes of prophylaxis. The fertility of BRCA carriers, however, has not been widely investigated. The aim of the present work is to review the literature pertaining to this issue.

Keywords: BRCA; preimplantation genetic diagnosis (PGD); premature ovarian insufficiency.

Publication types

  • Review

MeSH terms

  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Female
  • Fertility / genetics*
  • Fertility Preservation
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Infertility, Female / epidemiology
  • Infertility, Female / genetics*
  • Infertility, Female / physiopathology*
  • Infertility, Female / therapy
  • Mutation*
  • Ovarian Reserve / genetics
  • Ovary / physiopathology
  • Phenotype
  • Preimplantation Diagnosis / methods
  • Primary Ovarian Insufficiency / epidemiology
  • Primary Ovarian Insufficiency / genetics*
  • Primary Ovarian Insufficiency / physiopathology*
  • Primary Ovarian Insufficiency / therapy
  • Risk Factors

Substances

  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human