# TERT promoter mutation

Source: https://onco.cc/terms/tert-promoter/  
OnCo record `tert-promoter` (Term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

A mutation that keeps the cell's immortality enzyme switched on. In thyroid cancer, having it alongside BRAF marks the tumours most likely to spread and resist iodine.

## Summary

TERT promoter mutations, chiefly C228T and C250T, keep the telomerase enzyme switched on and so remove one brake on replicative immortality. In thyroid cancer they occur in a minority of papillary cancers and in most anaplastic cancers, and their co-occurrence with BRAF V600E is synergistic for recurrence, distant metastasis and poor outcome, marking the tumours most likely to spread and resist radioiodine. The mutation is included in the ThyroSeq molecular classifier used on indeterminate thyroid nodules and is used for risk stratification. It is also a marker in melanoma, glioma and glioblastoma, and bladder and urothelial cancer. Readers meet it within the telomere maintenance pathway and the hallmark of enabling replicative immortality.

## Fields

- Kind: Term
- Last checked: 2026-09-07
- Also known as: TERT promoter mutations

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/Telomerase_reverse_transcriptase
- Landa et al., Frequent somatic TERT promoter mutations in thyroid cancer (Journal of Clinical Endocrinology and Metabolism 2013): https://doi.org/10.1210/jc.2013-2383

## Connected records

- cancers: [Bladder & urothelial cancer](https://onco.cc/cancers/urothelial/), [Glioma & glioblastoma](https://onco.cc/cancers/glioblastoma/), [Melanoma](https://onco.cc/cancers/melanoma/), [Non-small-cell lung cancer](https://onco.cc/cancers/nsclc/), [Thyroid cancer](https://onco.cc/cancers/thyroid/)
- technologies: [Thyroid nodule FNA, Bethesda cytology & molecular classifiers](https://onco.cc/technologies/thyroid-fna-molecular/)
- targets: [BRAF](https://onco.cc/targets/braf/)
- key papers: [Frequent somatic TERT promoter mutations in thyroid cancer: higher prevalence in advanced forms of the disease](https://onco.cc/key-papers/paper-landa-j-clin-endocrinol-metab/)
- pathways: [Telomere maintenance & replicative immortality](https://onco.cc/pathways/telomere-maintenance/)
- terms: [1p/19q codeletion](https://onco.cc/terms/1p19q-codeletion/), [Hallmark: enabling replicative immortality](https://onco.cc/terms/enabling-replicative-immortality/)

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