title: [Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma].
abstract: Cutaneous melanoma is a multifactorial disease resulting from both environmental and genetic factors. Five susceptibility genes have been identified over the past years, comprising high-risk susceptibility genes (CDKN2A, CDK4, and BAP1 genes) and intermediate-risk susceptibility genes (MITF, and MC1R genes). The aim of this expert consensus was to define clinical contexts justifying genetic analyses, to describe the conduct of these analyses, and to propose surveillance recommendations. Given the regulatory constraints, it is recommended that dermatologists work in tandem with a geneticist. Genetic analysis may be prescribed when at least two episodes of histologically proven invasive cutaneous melanoma have been diagnosed before the age of 75 years in two 1st or 2nd degree relatives or in the same individual. The occurrence in the same individual or in a relative of invasive cutaneous melanoma with ocular melanoma, pancreatic cancer, renal cancer, mesothelioma or a central nervous system tumour are also indications for genetic testing. Management is based upon properly managed photoprotection and dermatological monitoring according to genetic status. Finally, depending on the mutated gene and the familial history, associated tumour risks require specific management (e.g. ocular melanoma, pancreatic cancer). Due to the rapid progress in genetics, these recommendations will need to be updated regularly.
authors.affiliation: Service de dermatologie, groupe hospitalier Cochin-Saint-Vincent-de-Paul, AP-HP, pavillon Tarnier, 89, rue d'Assas, 75006 Paris, France.
authors.forename: M-F
authors.initials: MF
authors.lastname: Avril
authors.affiliation: Inserm U895, service de dermatologie, hôpital Archet 2, CHU, 151, route Saint-Antoine-Ginestiere, BP 79, 06200 Nice cedex 3, France.
authors.forename: P
authors.initials: P
authors.lastname: Bahadoran
authors.affiliation: Service de génétique, département de biologie et pathologie médicales, Gustave-Roussy, 114, rue Édouard-Vaillant, 94805 Villejuif cedex, France.
authors.forename: O
authors.initials: O
authors.lastname: Cabaret
authors.affiliation: Consultation d'oncogénétique, Gustave-Roussy, 114, rue Édouard-Vaillant, 94805 Villejuif, France.
authors.forename: O
authors.initials: O
authors.lastname: Caron
authors.affiliation: Département de biopathologie, centre Léon-Bérard, 28, rue Laennec, 69008 Lyon, France.
authors.forename: A
authors.initials: A
authors.lastname: de la Fouchardière
authors.affiliation: Inserm, UMR946, variabilité génétique et maladies humaines, fondation Jean-Dausset, CEPH, 27, rue Juliette-Dodu, 75010 Paris, France.
authors.forename: F
authors.initials: F
authors.lastname: Demenais
authors.affiliation: Service d'ophtalmologie, institut Curie, 26, rue d'Ulm, 75231 Paris cedex 05, France.
authors.forename: L
authors.initials: L
authors.lastname: Desjardins
authors.affiliation: Inserm U1079, service de génétique, CHU de Rouen, IRIB, faculté de médecine et de pharmacie, 22, boulevard Gambetta, 76183 Rouen cedex, France.
authors.forename: T
authors.initials: T
authors.lastname: Frébourg
authors.affiliation: Service de gastro-entérologie-pancréatologie, hôpital Beaujon, AP-HP, 100, boulevard du Général-Leclerc, 92118 Clichy cedex, France.
authors.forename: P
authors.initials: P
authors.lastname: Hammel
authors.affiliation: Service de dermatologie, CHU Michallon, BP 217, 38043 Grenoble cedex 9, France.
authors.forename: M-T
authors.initials: MT
authors.lastname: Leccia
authors.affiliation: Inserm U900, équipe épidémiologie génétique des cancers, institut Curie, 26, rue d'Ulm, 75248 Paris cedex 05, France.
authors.forename: F
authors.initials: F
authors.lastname: Lesueur
authors.affiliation: Service de dermatologie, centre hospitalier Victor-Dupouy, 69, rue du Lieutenant-Colonel-Prud'hon, 95107 Argenteuil cedex, France.
authors.forename: E
authors.initials: E
authors.lastname: Mahé
authors.affiliation: Service de dermatologie, CHU d'Angers, université d'Angers, 4, rue Larrey, 49933 Angers cedex 9, France.
authors.forename: L
authors.initials: L
authors.lastname: Martin
authors.affiliation: Inserm, UMR946, variabilité génétique et maladies humaines, fondation Jean-Dausset, CEPH, 27, rue Juliette-Dodu, 75010 Paris, France; Service de dermatologie, hôpital Bichat, AP-HP, 46, rue Henri-Huchard, 75018 Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: Maubec
authors.affiliation: Département d'oncologie génétique, institut Paoli-Calmettes, 232, boulevard Saint-Marguerite, 13273 Marseille cedex 9, France.
authors.forename: A
authors.initials: A
authors.lastname: Remenieras
authors.affiliation: Service d'urologie, hôpital Bicêtre, Centre expert national cancers rares INCa PREDIR, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre cedex, France.
authors.forename: S
authors.initials: S
authors.lastname: Richard
authors.affiliation: Service de dermatologie, Gustave-Roussy, 114, rue Édouard-Vaillant, 94805 Villejuif, France.
authors.forename: C
authors.initials: C
authors.lastname: Robert
authors.affiliation: Inserm U976, laboratoire de génétique moléculaire, unité fonctionnelle de génétique, hôpital Xavier-Bichat-Claude-Bernard, AP-HP, Paris 7 université, 75018 Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Soufir
authors.affiliation: Inserm U830, service de génétique, département de biologie des tumeurs, institut Curie, 26, rue d'Ulm, 75231 Paris cedex 05, France.
authors.forename: D
authors.initials: D
authors.lastname: Stoppa-Lyonnet
authors.affiliation: Service de dermatologie, centre hospitalier Lyon Sud, université Lyon 1, 165, chemin du Grand-Revoyet, 69495 Pierre-Bénite cedex, France.
authors.forename: L
authors.initials: L
authors.lastname: Thomas
authors.affiliation: Service de dermatologie, CHU de Dijon, BP 77908, 21079 Dijon cedex, France.
authors.forename: P
authors.initials: P
authors.lastname: Vabres
authors.affiliation: Service de génétique, département de biologie et pathologie médicales, Gustave-Roussy, 114, rue Édouard-Vaillant, 94805 Villejuif cedex, France. Electronic address: brigitte.bressac@gustaveroussy.fr.
authors.forename: B
authors.initials: B
authors.lastname: Bressac-de Paillerets
mesh_terms: D051358:Cyclin-Dependent Kinase 4 / Q000235:genetics; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics; D009154:Mutation; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics; D043222:Ubiquitin Thiolesterase / Q000235:genetics
chemical_list: C400134:BAP1 protein, human; D019941:Cyclin-Dependent Kinase Inhibitor p16; C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; D044102:Receptor, Melanocortin, Type 1; D025521:Tumor Suppressor Proteins; C495900:CDK4 protein, human; D051358:Cyclin-Dependent Kinase 4; D043222:Ubiquitin Thiolesterase
keywords: Counselling; Genetic predisposition; Genetic testing; Melanoma; Mélanome; Prescription; Prise en charge; Prédisposition génétique