Point mutation in p14ARF-specific exon 1β of CDKN2A causing familial melanoma and astrocytoma

Abstract

Rarely, melanoma is dominantly inherited, with CDKN2A mutations accounting for >85% of mutation-positive families (1). CDKN2A encodes two, non-homologous proteins, p16 and p14^ARF, with individually unique first exons (1α and 1β, respectively) and alternative reading frames. Over 95% of the CDKN2A mutations in familial melanoma occur in the p16 transcript (1).