Study Underscores Role of Mutations in TERT Promoter in Cancer

A Science study found that recurrent mutations in the promoter of the telomerase gene, TERT, could be responsible for overexpression of telomerase in a majority of cancers, thereby sustaining the replicative potential of cancer cells.

The study, conducted by researchers at the University of Illinois at Urbana-Champaign and at the University of California, San Francisco, found that recurrent mutations in the promoter of the TERT gene results in overexpression of the telomerase protein, which functions in protecting the ends of chromosomes in each cell. Overexpressing telomerase makes cells immortal, and scientists often generate TERT-overexpressing cells in laboratories to study biological processes.

In the current study, the authors found that tumor tissues rely on a specific transcription factor that selectively binds the mutated sequences on the promoter of the TERT gene, but does not recognize the wild-type promoter sequence in healthy tissue. The discovery of this mechanism could potentially have broader implications in the development of more targeted therapies with reduced off-target effects.

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