Melanoma prone families with <i>CDK4</i> germline mutation: phenotypic profile and associations with <i>MC1R</i> variants

Abstract

Our study shows that families with CDK4 germline mutations cannot be distinguished phenotypically from CDKN2A melanoma families, which are characterised by early onset of disease, increased occurrence of clinically atypical nevi, and development of MPM. In a clinical setting, the CDK4 gene should therefore always be examined when a melanoma family tests negative for CDKN2A mutation.