Detecting TERT promoter methylation for cancer diagnosis (SJ-16-0015)

St. Jude Reference #SJ-16-0015


Telomeres are repetitive DNA structures at the ends of chromosomes that protect against chromosomal degradation and end-to-end fusion. In the absence of a mechanism to maintain telomere integrity in proliferating cells, telomere attrition can result in cell senescence or cell death. The majority of malignant tumor cells (80-90%) maintain a sufficient level of telomere integrity by aberrant activation of the enzyme telomerase. In contrast, telomerase activity is below detection levels in somatic cells and benign neoplastic cells. Expression of the catalytic and rate-limiting subunit of this enzyme, TERT, is upregulated in the majority of cancer cells; in some cases this correlates with aberrant CpG methylation of a particular region of the TERT promoter.

Researchers at St. Jude have developed a cheaper and faster method for detecting a methylation signature of the TERT promoter, which has previously been shown to be useful for cancer diagnosis by Branco (WO2013/173912). This new method involves simple restriction enzyme analysis of the promoter region.  Alternative detection methods, such as pyrosequencing or next-generation bisulfite sequencing, are expensive and not easily transferrable to the diagnostic platform used by clinical laboratories. This newly developed assay is simple, inexpensive, easy to interpret, reliable, and accurate and might become the method of choice for many clinical applications for cancer diagnosis in the future and for assessing tumor response to targeted demethylation therapy.


Telomere shortening, chromosome, cancer, telomerase, TERT gene, CpG methylation

Granted patents or published applications

Pending patent application published as US 2021/0285052 A1 

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