Genotypic vs Phenotypic Risk Assessment for Melanoma
Menée auprès de 12 712 personnes âgées (âge moyen : 75 ans ; 55 % de femmes ; durée moyenne de suivi : 4,7 ans), cette étude évalue l'association entre un système de score, basé sur la présence de 55 variants génétiques, et le risque de développer un mélanome cutané
Whole body visual screening isroutinely performedfor individuals with known risk factors for melanoma, which include a previous diagnosis of melanoma[1], an affected first-degree relative with melanoma[2, 3], increased number of nevi[4], dysplastic nevi[5], fair skin[6], blue eyes[6], and red hair[6]. Routine screening is also performed for individuals withrare, germline pathogenic variants of certain genes involved in cell cycle regulation (CDKN2A[7], CDK4[8]), protein de-ubiquitination (BAP1[9]), and telomere maintenance (TERT[10], POT1[11, 12], ACD[13], TERF2IP[13]). Individuals with disease-associated variants of CDKN2A, the most commonly affected gene in melanoma-prone families (
≥
3 affected family members), and CDK4 predominantly develop melanoma at sites of chronically or intermittently photodamaged skin suggesting that ultraviolet (UV) radiation is an important modifier of disease penetrance in this high-risk population.
Journal of the National Cancer Institute , éditorial en libre accès, 2020