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Updated: Jan 30, 2026
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DNA Vector-based RNA Interference to Study Gene Function in Cancer
Published on: June 4, 2012
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TERT gene: its function and dysregulation in cancer
Andrew J Colebatch1, Alexander Dobrovic2,3,4,5, Wendy A Cooper6,7,8
1Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Sydney, Australia andrew.colebatch@health.nsw.gov.au.
Journal of Clinical Pathology
|January 31, 2019
Summary
Telomerase reverse transcriptase (TERT) mutations drive cancer by altering gene regulation. Understanding TERT promoter mutations is key for developing new cancer biomarkers and therapies.
Area of Science:
- Molecular biology
- Oncology
- Genetics
Background:
- Telomerase reverse transcriptase (TERT) is crucial for maintaining telomere length.
- Dysregulation of telomerase activity is a hallmark of cancer.
- TERT promoter mutations are frequently observed in various cancers.
Purpose of the Study:
- To review the structure, function, and regulation of human TERT.
- To discuss the role of TERT promoter mutations in cancer development.
- To explore the potential of TERT mutations as biomarkers for malignant transformation.
Main Methods:
- Literature review of TERT function, regulation, and mutations.
- Analysis of molecular mechanisms underlying TERT promoter mutations.
- Review of studies on the timing of TERT mutations during carcinogenesis.
Main Results:
- TERT promoter mutations lead to increased telomerase expression and activity.
- These mutations are common drivers in many cancer types, including melanoma and glioblastoma.
- TERT mutations can occur early in the carcinogenic process.
Conclusions:
- TERT promoter mutations are critical oncogenic drivers.
- The timing of TERT mutations suggests their utility as early biomarkers.
- Targeting TERT or its regulatory pathways may offer therapeutic strategies.
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