A germline mutation affecting exon 1beta of the CDKN2A locus is associated with a familial melanoma syndrome. The mutation represents an insertion of 16 nucleotides (CGGCCCGCCGCGAGTG) between coding bases 60 and 61 in exon 1beta. This insertion results in a frameshift, starting at arginine codon at position 21 of p14ARF and ending with a premature stop codon at position 67. The mutant protein p14ARF R21RfsTER47 (p14ARF 60ins16) is unable to translocate to the nucleus and stabilize TP53 (Rizos, Puig et al. 2001).