Genetics of familial melanoma: 20 years after CDKN2A

Aoude, Lauren G, Wadt, A.W, Pritchard, Antonia L and Hayward, Nicholas K (2015) Genetics of familial melanoma: 20 years after CDKN2A. Pigment Cell and Melanoma Research, 28 2: 148-160. doi:10.1111/pcmr.12333

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Author Aoude, Lauren G
Wadt, A.W
Pritchard, Antonia L
Hayward, Nicholas K
Title Genetics of familial melanoma: 20 years after CDKN2A
Journal name Pigment Cell and Melanoma Research   Check publisher's open access policy
ISSN 1755-148X
Publication date 2015-03-01
Year available 2015
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1111/pcmr.12333
Open Access Status Not yet assessed
Volume 28
Issue 2
Start page 148
End page 160
Total pages 13
Place of publication Hoboken, NJ, United States
Publisher Wiley-Blackwell Publishing
Language eng
Formatted abstract
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.
Keyword Familial
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Official 2016 Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 24 times in Thomson Reuters Web of Science Article | Citations
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