The Solo Play of TERT Promoter Mutations.

The Solo Play of TERT Promoter Mutations.

Publication date: Mar 19, 2020

The reactivation of telomerase reverse transcriptase (TERT) protein is the principal mechanism of telomere maintenance in cancer cells. Mutations in the TERT promoter (TERTp) are a common mechanism of TERT reactivation in many solid cancers, particularly those originating from slow-replicating tissues. They are associated with increased TERT levels, telomere stabilization, and cell immortalization and proliferation. Much effort has been invested in recent years in characterizing their prevalence in different cancers and their potential as biomarkers for tumor stratification, as well as assessing their molecular mechanism of action, but much remains to be understood. Notably, they appear late in cell transformation and are mutually exclusive with each other as well as with other telomere maintenance mechanisms, indicative of overlapping selective advantages and of a strict regulation of TERT expression levels. In this review, we summarized the latest literature on the role and prevalence of TERTp mutations across different cancer types, highlighting their biased distribution. We then discussed the need to maintain TERT levels at sufficient levels to immortalize cells and promote proliferation while remaining within cell sustainability levels. A better understanding of TERT regulation is crucial when considering its use as a possible target in antitumor strategies.

Open Access PDF

Hafezi, F. and Perez Bercoff, D. The Solo Play of TERT Promoter Mutations. 26219. 2020 Cells (9):3.

Concepts Keywords
Biomarkers Non-coding RNA
Indicative Telomerase reverse transcriptase
Stratification Genetics
Sustainability Telomeres
Telomerase Reverse Transcriptase Branches of biology
Telomere GBM glioma melanoma
TERT Dyskeratosis congenita
Tumor MORT


Type Source Name
pathway REACTOME Telomere Maintenance
disease MESH cancer
drug DRUGBANK Tropicamide
disease MESH glioma
pathway KEGG Glioma
disease MESH melanoma
pathway KEGG Melanoma
disease MESH thyroid cancer
pathway KEGG Thyroid cancer


Original Article

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