[Hereditary breast and ovarian cancer syndrome: Diagnosis and therapeutic implications]

Ann Pathol. 2020 Apr;40(2):70-77. doi: 10.1016/j.annpat.2020.01.004. Epub 2020 Feb 8.
[Article in French]


Patients who carry the BReast Cancer 1 or 2 (BRCA) gene mutations have an underlying hereditary predisposition for breast and ovarian cancers. These deleterious genetic mutations are the most common ones implicated in hereditary breast and ovarian cancers. Oncogenetic counselling plays a key role in identifying patient for BRCA testing and for mutation identification. BRCA1/2 carriers have to be followed up regularly and may justify breast and/or adnexal prophylactic surgery, according to the French National Cancer Institute guidelines (INCa). Poly- (DNA-riboses) polymerases inhibitors, notably olaparib, have a major role in the management of epithelial ovarian cancer in patients with BRCA mutation and many studies are ongoing to expand their indications in a near future.

Keywords: BRCA1/2 mutation; Breast/ovarian syndrome; Mutation BRCA1/2, Syndrome ovaires/seins, Inhibiteurs de PARP, Olaparib; Olaparib; PARP inhibitors.

Publication types

  • Review

MeSH terms

  • BRCA1 Protein / analysis
  • BRCA1 Protein / genetics
  • BRCA2 Protein / analysis
  • BRCA2 Protein / genetics
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Hereditary Breast and Ovarian Cancer Syndrome* / diagnosis
  • Hereditary Breast and Ovarian Cancer Syndrome* / drug therapy
  • Hereditary Breast and Ovarian Cancer Syndrome* / genetics
  • Humans
  • Mutation
  • Ovarian Neoplasms / drug therapy
  • Phthalazines / therapeutic use
  • Piperazines / therapeutic use
  • Poly(ADP-ribose) Polymerase Inhibitors / therapeutic use


  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • Phthalazines
  • Piperazines
  • Poly(ADP-ribose) Polymerase Inhibitors
  • olaparib