Two groups have discovered recurrent mutations in the promoter of telomerase reverse transcriptase (TERT) in a large proportion of sporadic melanomas, as well as in a large, melanoma-prone family. The mutations create binding sites for ETS transcription factors, leading to increased transcription of TERT. The high frequency (more frequent than BRAF and NRAS mutations) and mutually exclusive nature of these mutations suggest that this may represent a driver mechanism in melanoma.
ORIGINAL RESEARCH PAPERS
Horn, S. et al. TERT promoter mutations in familial and sporadic melanoma. Science 24 Jan 2013 (doi:10.1126/science.1230062)
Huang, F. W. et al. Highly recurrent TERT promoter mutations in human melanoma. Science 24 Jan 2013 (doi:10.1126/science.1229259)
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Seton-Rogers, S. Promoter mutations. Nat Rev Cancer 13, 149 (2013). https://doi.org/10.1038/nrc3482
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DOI: https://doi.org/10.1038/nrc3482
