Genetics of familial melanoma: 20 years after CDKN2A

Lauren G. Aoude, Karin A. W. Wadt, Antonia L. Pritchard, Nicholas K. Hayward

Research output: Contribution to journalArticlepeer-review

113 Citations (Scopus)


Twenty years ago, the first familial melanoma susceptibility gene, CDKN2A, was identified. Two years later, another high-penetrance gene, CDK4, was found to be responsible for melanoma development in some families. Progress in identifying new familial melanoma genes was subsequently slow; however, with the advent of next-generation sequencing, a small number of new high-penetrance genes have recently been uncovered. This approach has identified the lineage-specific oncogene MITF as a susceptibility gene both in melanoma families and in the general population, as well as the discovery of telomere maintenance as a key pathway underlying melanoma predisposition. Given these rapid recent advances, this approach seems likely to continue to pay dividends. Here, we review the currently known familial melanoma genes, providing evidence that most additionally confer risk to other cancers, indicating that they are likely general tumour suppressor genes or oncogenes, which has significant implications for surveillance and screening.
Original languageEnglish
Pages (from-to)148-160
Number of pages13
JournalPigment Cell and Melanoma Research
Issue number2
Early online date16 Feb 2015
Publication statusPublished - Mar 2015


  • familial
  • melanoma
  • genetics


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