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Both environmental and host factors influence risk of cutaneous melanoma (CM), and worldwide, the incidence varies depending on constitutional determinants of skin type and pigmentation, latitude, and patterns of sun exposure. We performed genetic analysis of  CDKN2A ,  CDK4 ,  BAP1 ,  MC1R , and  MITF p.E318K in Danish high-risk melanoma cases and found  CDKN2A  germline mutations in 11.3% of CM families with three or more affected individuals, including four previously undescribed mutations. Rare mutations were also seen in  CDK4  and  BAP1 , while  MC1R  variants were common, occurring at more than twice the frequency compared to Danish controls. The  MITF  p.E318K variant similarly occurred at an approximately three-fold higher frequency in melanoma cases than controls. To conclude, we propose that mutation screening of  CDKN2A  and  CDK4  in Denmark should predominantly be performed in families with at least 3 cases of CM. In addition, we recommend that testing of  BAP1  should not be conducted routinely in CM families but should be reserved for families with CM and uveal melanoma, or mesothelioma.

Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic Predisposition