Understanding TERT promoter mutations: a common path to immortality

RJA Bell, HT Rube, A Xavier-Magalhaes… - Molecular Cancer …, 2016 - AACR
Telomerase (TERT) activation is a fundamental step in tumorigenesis. By maintaining
telomere length, telomerase relieves a main barrier on cellular lifespan, enabling limitless …

TERT promoter mutations in telomere biology

B Heidenreich, R Kumar - Mutation Research/Reviews in Mutation …, 2017 - Elsevier
Telomere repeats at chromosomal ends, critical to genome integrity, are maintained through
an elaborate network of proteins and pathways. Shelterin complex proteins shield telomeres …

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

M Kircher, C Xiong, B Martin, M Schubach… - Nature …, 2019 - nature.com
The majority of common variants associated with common diseases, as well as an unknown
proportion of causal mutations for rare diseases, fall in noncoding regions of the genome …

Cancer-specific telomerase reverse transcriptase (TERT) promoter mutations: biological and clinical implications

T Liu, X Yuan, D Xu - Genes, 2016 - mdpi.com
The accumulated evidence has pointed to a key role of telomerase in carcinogenesis. As a
RNA-dependent DNA polymerase, telomerase synthesizes telomeric DNA at the end of …

Transcription Regulation of the Human Telomerase Reverse Transcriptase (hTERT) Gene

MK Ramlee, J Wang, WX Toh, S Li - Genes, 2016 - mdpi.com
Embryonic stem cells and induced pluripotent stem cells have the ability to maintain their
telomere length via expression of an enzymatic complex called telomerase. Similarly, more …

Telomere maintenance mechanisms in cancer

T Bordeira Gaspar, A Sá, JM Lopes… - Genes, 2018 - mdpi.com
Tumour cells can adopt telomere maintenance mechanisms (TMMs) to avoid telomere
shortening, an inevitable process due to successive cell divisions. In most tumour cells …

Human TERT promoter mutation enables survival advantage from MGMT promoter methylation in IDH1 wild-type primary glioblastoma treated by standard …

HTN Nguyen, A Lie, T Li, R Chowdhury, F Liu… - Neuro …, 2017 - academic.oup.com
Background. Promoter mutation in the human telomerase reverse transcriptase gene
(hTERT) occurs in~ 75% of primary glioblastoma (GBM). Although the mutation appears to …

The interaction between TERT promoter mutation and MGMT promoter methylation on overall survival of glioma patients: a meta-analysis

HG Vuong, TQ Nguyen, TNM Ngo, HC Nguyen… - BMC cancer, 2020 - Springer
Background There are controversial results concerning the prognostic implication of TERT
promoter mutation in glioma patients concerning MGMT status. In this meta-analysis, we …

Human TERT promoter mutations as a prognostic biomarker in glioma

B Powter, SA Jeffreys, H Sareen, A Cooper… - Journal of cancer …, 2021 - Springer
The TERT promoter (pTERT) mutations, C228T and C250T, play a significant role in
malignant transformation by telomerase activation, oncogenesis and immortalisation of cells …

TERT promoter mutations in thyroid cancer

M Matsuse, N Mitsutake - Endocrine journal, 2023 - jstage.jst.go.jp
TERT promoter mutations (TERT-p mutations) have been found in many types of cancer and
have emerged to play critical roles in tumor progression. The mutations upregulate TERT …