The major aims of our study were: i) to determine the prevalence of germline CDKN2A mutations and variations in members of families with familial CM and in patients with multiple primary CM; ii) to search for individuals/families with possible CDK4 mutations; iii) to determine the frequency of MC1R gene variants and to correlate them with development of CM in the population of patients from melanoma families and their healthy relatives. This evidence concerns the gene CDK4 and cutaneous mastocytosis.