The result was the identification of a heterozygous PV in BRCA1(NM_007294.4):c.3759dup (p.Lys1254*), associated with hereditary breast-ovarian cancer syndrome and a novel heterozygous PV in CDKN2A (NM_000077.4, p16INK4A):c.-34G>T associated with familial atypical multiple mole melanoma syndrome (FAMMMS). This evidence concerns the gene CDKN2A and familial atypical multiple mole melanoma syndrome.