The UK family with the promoter variant was identified came from a series of 139 three-or-more case melanoma families, of which 56 (40 %) have a CDKN2A mutation; 2 (1.4 %) have a CDK4 mutation, 4 (2.8 %) have shelterin mutations, and now 1 (0.7 %) has a TERT promoter mutation. Here, CDKN2A is linked to melanoma.