Among the 214 melanoma-prone families recruited through the French Familial Melanoma Project, 46 families were positive for point mutations within CDKN2A (21.5%), one family carried a CDK4 point mutation in exon 2 (0.5%), and one family carried a large CDKN2A deletion (0.5%). The gene discussed is CDKN2A; the disease is melanoma.