New developments in melanoma genetics

Research over the last decade has unraveled many details of genetic susceptibility to melanoma. The most recent advances include the characterization of variants outside the coding region of the CDKN2A gene associated with melanoma predisposition. A mutation in the 5' untranslated region (UTR) of CDKN2A generates a novel upstream initiation codon that abrogates expression of p16, and a common polymorphism in the 3' UTR is associated with increasing familial risk of melanoma. Other studies have assessed CDKN2A mutation status and non-melanoma cancers, atypical nevi, and the development of multiple primary melanomas, and provided information valuable for screening of individuals who are at risk.