French recommendations on multi-gene panel testing in renal cell carcinoma
Year: 2025
Type: article
Abstract: INTRODUCTION: Renal cancers are inherited in about 5 % of cases and are associated with several genetic syndromes. Genetic testing is recommended for selected patients suspected of having hereditary syndromes. In the absence of guidelines regarding which genes should be included for carrying out genetic screening of these individuals, discrepancies existed among the next generation sequencing (NGS) multi-gene panels (MGP) used in French laboratories. There was therefore a clear need to standardise practices and offer patients with renal cancer a consensus-based genetic testing in France. METHODS: A working group comprising national experts from the French Genetic and Cancer Group Unicancer (GGC) and from the French network on Hereditary PREDIspositions to Renal Cancer (PREDIR) and encompassing medical geneticists, genetic counsellor, molecular biologists and epidemiologists was established. The objective was to define a list of clinically relevant genes that should be included in a "GGC-PREDIR" approved NGS MGP for patients with renal cancer. A list of 32 genes of interest was compiled following an exhaustive and critical review of the literature. The inclusion or exclusion of each gene was determined based on available data regarding risk, prevalence and analyses published from large studies of patients. RESULTS: The French group of experts defined a list of 12 genes of clinical and genetic counselling relevance comprising BAP1, FH, FLCN, MET, PTEN, SDHA, SDHB, SDHC, SDHD, TSC1, TSC2 and VHL to be included in the national recommended "renal cancer" NGS MGP. For each of these genes, recommendations for renal surveillance are proposed. CONCLUSION: Unlike hereditary predisposition to breast or colon cancer, hereditary renal cancer predispositions are rare syndromes and risk estimates are lacking for most of them. Prospective studies are needed to improve our knowledge. The GGC-PREDIR experts retained 12 genes for inclusion in the NGS MGP for renal cancer patients. However, the panel will be expanded on the basis of regularly updated data from the medical literature.
Authors: Sophie Giraud, Pascaline Berthet, Caroline Abadie, Nadine Andrieu, Patrick R. Benusiglio, Valérie Bonadona, Olivier Caron, Carole Corsini, Isabelle Coupier, Louise Crivelli, Capucine Delnatte, Pierre Devulder, Antoine DE Pauw, Sophie Dussart, Anne-Paule Gimenez-Roqueplo, Sophie Lejeune-Dumoulin, Jessica Moretta, Marie Muller, Julie Tinat, Stéphane Richard, Catherine Nogues, Nelly Burnichon
Institutions: Centre Hospitalier de la Côte Basque, Institut Bergonié, Inserm, Centre François Baclesse, Institut de Cancérologie de l'Ouest, Institut National du Cancer, Université Paris Sciences et Lettres, École Nationale Supérieure des Mines de Paris, Institut Curie, Sorbonne Université, Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Lyon 1 Université, Centre National de la Recherche Scientifique, Centre Léon Bérard, Laboratoire de Biométrie et Biologie Evolutive, Institut Gustave Roussy, Centre Hospitalier Universitaire de Montpellier, Hôpital Arnaud de Villeneuve, Centre Eugène Marquis, Centre Hospitalier Universitaire de Rennes, Université Paris Cité, Centre de Recherche des Cordeliers, Hôpital Européen Georges-Pompidou, Centre d'Investigation Clinique Hôpital Européen Georges Pompidou, Centre Hospitalier Universitaire de Lille, Institut Paoli-Calmettes, Centre Hospitalier Régional et Universitaire de Nancy, Université de Lorraine, Centre Hospitalier Universitaire de Bordeaux, Hôpital Pellegrin, École Pratique des Hautes Études, Aix-Marseille Université, Institut de Recherche pour le Développement
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $3,330
OpenAlex ID: W4416426740