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April 2016

Genetic Testing for Melanoma—Where Are We With Moderate-Penetrance Genes?

Author Affiliations
  • 1Département de Biopathologie, Gustave Roussy, Villejuif, France
  • 2INSERM U1186, Université Paris-Sud, Université Paris-Saclay, Villejuif, France
  • 3Service de Dermatologie, CHU Dijon-Bourgogne, Dijon, France
  • 4EA4271 Génétique des Anomalies du Développement, FHU Translad, Université de Bourgogne Franche-Comté, Dijon, France
  • 5Service de Dermatologie, Centre Hospitaliser Lyon Sud, Pierre Bénite, France
  • 6Université Claude Bernard Lyon 1, Villeurbanne, France
  • 7Centre de Recherche sur le Cancer de Lyon, INSERM U1052–CNRS UMR5286, Centre Léon Bérard, Lyon, France
JAMA Dermatol. 2016;152(4):375-376. doi:10.1001/jamadermatol.2015.4359

Potrony et al1 studied a new category of cancer susceptibility genes conferring a moderately increased risk of developing cancer: a mutational hotspot in the microphthalmia transcription factor (MITF) gene, p.E318K.2,3 The main melanoma risk factors are UV light exposure and genetically determined host factors, such as nevus phenotype (atypical and multiple), fair skin, and familial or personal history of melanoma.

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