Journal
PIGMENT CELL & MELANOMA RESEARCH
Volume 28, Issue 2, Pages 148-160Publisher
WILEY
DOI: 10.1111/pcmr.12333
Keywords
familial; melanoma; genetics
Categories
Funding
- National Health and Medical Research Council of Australia
- Cure Cancer Australia
- Australia and New Zealand Banking Group Limited
- Rigshospitalet, University Hospital of Copenhagen
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available