In a study of CDKN2A/CDK4 wild-type melanoma-prone families recruited from Australia, UK and the Netherlands, four pedigrees were found (3.8%, n = 4/105) in which melanoma co-segregated with POT1 germline variants (p.Tyr89Cys, p.Gln94Glu, p.Arg273Leu, and c.1687-1G > A) [69]. This evidence concerns the gene CDKN2A and melanoma.