Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non‐ CDKN2A/CDK4 melanoma families

Germline mutations in the major melanoma susceptibility gene CDKN2A explain genetic predisposition in only 10–40% of melanoma‐prone families. In our study we comprehensively characterized 488 melanoma cases from 451 non‐ CDKN2A/CDK4 families for mutations in 30 established and candidate melanoma susceptibility genes using a custom‐designed targeted gene panel approach. We identified (likely) pathogenic variants in established melanoma susceptibility genes in 18 families ( n = 3 BAP1 , n = 15 MITF p.E318K; diagnostic yield 4.0%). Among the three identified BAP1 ‐families, there were no reported... Mehr ...