Genetics of familial melanoma: 20 years after CDKN2A

Summary 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; ho...

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Bibliographic Details
Published in:Pigment cell and melanoma research 2015-03, Vol.28 (2), p.148-160
Main Authors: Aoude, Lauren G., Wadt, Karin A. W., Pritchard, Antonia L., Hayward, Nicholas K.
Format: Article
Language:English
Subjects:
Cyclin-Dependent Kinase Inhibitor p16 - genetics
familial
Family
Genes
Genetics
Humans
Melanoma
Melanoma - genetics
Melanoma, Cutaneous Malignant
Models, Biological
Skin Neoplasms - genetics
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Summary:Summary 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.
ISSN:1755-1471
1755-148X
DOI:10.1111/pcmr.12333