In a Spanish study of melanoma-prone families without CDKN2A or CDK4 mutations, four pedigrees (1.7%, n = 4/228) were identified with further distinct POT1 variants (p.Ile78Thr, p.Glu344*, c.255G > A and p.Asp598Serfs*22) [71]. The gene discussed is POT1; the disease is melanoma.