Ontology highlight
ABSTRACT:
SUBMITTER: Potjer TP
PROVIDER: S-EPMC6590189 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Potjer Thomas P TP Bollen Sander S Grimbergen Anneliese J E M AJEM van Doorn Remco R Gruis Nelleke A NA van Asperen Christi J CJ Hes Frederik J FJ van der Stoep Nienke N
International journal of cancer 20190121 10
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 ...[more]