New mutations driving deadly skin cancers discovered
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To investigate the mutation's effect, the researchers hooked the mutant TERT promoter to a gene that makes luciferase - a light-emitting protein. They observed that the mutant promoter increased the production of luciferase in laboratory cell lines.
In the same way, the scientists presume, the mutant promoter in human pigmented skin cells can send the TERT gene into overdrive, potentially contributing to the development of melanoma.
In analysing whole-genome data, the investigators discovered the two somatic, or not-inherited, mutations in 17 of 19 (89 per cent) of the tumours.
Next, they sequenced a larger number of melanoma tumours and found that the two mutations were present in 71 per cent of tumours in total.
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