[The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition]

Bull Cancer. 2018 Oct;105(10):907-917. doi: 10.1016/j.bulcan.2018.08.003. Epub 2018 Sep 27.
[Article in French]


Introduction: Next generation sequencing allows the simultaneous analysis of large panel of genes for families or individuals with a strong suspicion of hereditary breast and/or ovarian cancer (HBOC). Because of lack of guidelines, several panels of genes potentially involved in HBOC were designed, with large disparities not only in their composition but also in medical care offered to mutation carriers. Then, homogenization in practices is needed.

Methods: The French Genetic and Cancer Group (GGC) - Unicancer conducted an exhaustive bibliographic work on 18 genes of interest. Only publications with unbiased risk estimates were retained.

Results: The expertise of each 18 genes was based on clinical utility criteria, i.e. a relative risk of cancer of 4 and more, available medical tools for screening and prevention of mutation carriers, and pre-symptomatic genetic tests for relatives. Finally, 13 genes were selected to be included in a HBOC diagnosis gene panel: BRCA1, BRCA2, PALB2, TP53, CDH1, PTEN, RAD51C, RAD51D, MLH1, MSH2, MSH6, PMS2, EPCAM. The reasons for excluding NBN, RAD51B, CHEK2, STK11, ATM, BARD1, BRIP1 from the HBOC diagnosis panel are presented. Screening, prevention and genetic counselling guidelines were detailed for each of the 18 genes.

Discussion: Due to the rapid increase in knowledge, the GGC has planned a yearly update of the bibliography to take into account new findings. Furthermore, genetic-epidemiological studies are being initiated to better estimate the cancer risk associated with genes which are not yet included in the HBOC diagnosis panel.

Keywords: Breast cancer; Cancer de l’ovaire; Cancer du sein; Cancer genetics; Cancers héréditaires; Conseil génétique; Genetic counseling; Guidelines; Mutigene panels; Ovarian cancer; Panel de gènes; Recommandations.

Publication types

  • Practice Guideline

MeSH terms

  • Antigens, CD
  • Breast Neoplasms / genetics*
  • Cadherins
  • DNA-Binding Proteins / genetics
  • Epithelial Cell Adhesion Molecule / genetics
  • Fanconi Anemia Complementation Group N Protein / genetics
  • Female
  • France
  • Genes, BRCA1
  • Genes, BRCA2
  • Genes, p53
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Mismatch Repair Endonuclease PMS2 / genetics
  • MutL Protein Homolog 1 / genetics
  • MutS Homolog 2 Protein / genetics
  • Ovarian Neoplasms / genetics*
  • PTEN Phosphohydrolase / genetics


  • Antigens, CD
  • CDH1 protein, human
  • Cadherins
  • DNA-Binding Proteins
  • Epithelial Cell Adhesion Molecule
  • Fanconi Anemia Complementation Group N Protein
  • G-T mismatch-binding protein
  • Genetic Markers
  • MLH1 protein, human
  • PALB2 protein, human
  • RAD51D protein, human
  • PTEN Phosphohydrolase
  • PTEN protein, human
  • PMS2 protein, human
  • MSH2 protein, human
  • Mismatch Repair Endonuclease PMS2
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein

Supplementary concepts

  • Breast Cancer, Familial