Jessica Moretta1, Pascaline Berthet2, Valérie Bonadona3, Olivier Caron4, Odile Cohen-Haguenauer5, Chrystelle Colas6, Carole Corsini7, Véronica Cusin8, Antoine De Pauw6, Capucine Delnatte9, Sophie Dussart10, Christophe Jamain11, Michel Longy12, Elisabeth Luporsi13, Christine Maugard14, Tan Dat Nguyen15, Pascal Pujol7, Dominique Vaur16, Nadine Andrieu17, Christine Lasset18, Catherine Noguès19. 1. Institut Paoli-Calmettes, oncogénétique clinique, département d'anticipation et de suivi des cancers, 232, boulevard Sainte-Marguerite, 13009 Marseille, France. Electronic address: morettaj@ipc.unicancer.fr. 2. Centre François-Baclesse, oncogénétique clinique, département de biopathologie, 14000 Caen, France. 3. Centre Léon-Berard, unité clinique d'oncologie génétique, 69008 Lyon, France; Université Lyon 1, CNRS, LBBE UMR 5558, 69622 Villeurbanne, France. 4. Gustave-Roussy hôpital universitaire, département de médecine, 94800 Villejuif, France. 5. GH Saint-Louis-Lariboisière-Fernand-Widal, oncogénétique, 75010 Paris, France. 6. Institut Curie, oncogénétique, 75005 Paris, France. 7. CHRU de Montpellier, hôpital Arnaud de Villeneuve, service d'oncogénétique, 34090 Montpellier, France. 8. Hôpital Pitié-Salpêtrière-Charles-Foix, service de génétique, 75013 Paris, France. 9. ICO-Centre René-Gauducheau, unité d'oncogénétique, 44800 Nantes, France. 10. Centre Léon-Berard, unité clinique d'oncologie génétique, 69008 Lyon, France. 11. Unicancer, 75654 Paris France. 12. Institut Bergonié, oncogénétique, Inserm U 1218, 33000 Bordeaux, France. 13. CHR de Metz Thionville, oncogénétique, 57100 Metz, France. 14. CHU de Strasbourg, oncogénétique clinique, oncogénétique moléculaire, évaluation familiale et suivi, laboratoire d'oncobiologie, 67000 Strasbourg, France. 15. Institut Jean-Godinot, oncogénétique, 51100 Reims, France. 16. Centre François-Baclesse, laboratoire de biologie et de génétique du cancer, 14000 Caen, France. 17. Inserm, U900, Institut Curie, PSL Research University, Mines ParisTech, 75005 Paris, France. 18. Université Lyon 1, CNRS, LBBE UMR 5558, 69622 Villeurbanne, France; Centre Léon Bérard, département de santé publique, unité de prévention et épidémiologie génétique, 69008 Lyon, France. 19. Institut Paoli-Calmettes, oncogénétique clinique, département d'anticipation et de suivi des cancers, 232, boulevard Sainte-Marguerite, 13009 Marseille, France; Aix-Marseille université, Inserm, IRD, SESSTIM, 13000 Marseille, France.
Abstract
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.
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
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