Recommandations pour le diagnostic de prédisposition génétique au mélanome cutané et pour la prise en charge des personnes à risque

Cutaneous melanoma is a multifactorial disease resulting from both environmentaland genetic factors. Five susceptibility genes have been identified over the past years, com-prising high-risk susceptibility genes (CDKN2A, CDK4, and BAP1 genes) and intermediate-risksusceptibility genes (MITF, and MC1R genes). The aim of this expert consensus was to defineclinical contexts justifying genetic analyses, to describe the conduct of these analyses, and topropose surveillance recommendations. Given the regulatory constraints, it is recommendedthat dermatologists work in tandem with a geneticist. Genetic analysis may be prescribed whenat least two episodes of histologically proven invasive cutaneous melanoma have been diagno-sed 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 withocular melanoma, pancreatic cancer, renal cancer, mesothelioma or a central nervous system tumour are also indications for genetic testing. Management is based upon properly managedphotoprotection and dermatological monitoring according to genetic status. Finally, dependingon the mutated gene and the familial history, associated tumour risks require specific manage-ment (e.g. ocular melanoma, pancreatic cancer). Due to the rapid progress in genetics, theserecommendations will need to be updated regularly.