Related Experiment Video

Updated: Aug 18, 2025

Semi-quantitative Detection of RNA-dependent RNA Polymerase Activity of Human Telomerase Reverse Transcriptase Protein
08:26

Semi-quantitative Detection of RNA-dependent RNA Polymerase Activity of Human Telomerase Reverse Transcriptase Protein

Published on: June 12, 2018

10.0K

Emerging targets in upper tract urothelial carcinomas: the TERT gene

Andrés Ortíz Restrepo1, Jeffrey S Ross2, Philippe E Spiess3,4,5

  • 1UROGIV Research Group, School of Medicine, Universidad del Valle, Cali, Colombia.

The Canadian Journal of Urology
|December 10, 2022
PubMed
Abstract

Insights

Telomerase reverse transcriptase (TERT) gene mutations are common in upper tract urothelial carcinoma (UTUC). Specific TERT mutations, C228T and C250T, show potential as non-invasive diagnostic markers in urine for UTUC.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Urothelial carcinoma (UC) is a significant cause of cancer-related mortality.
  • Telomerase reverse transcriptase (TERT) gene activation is crucial for cancer development and progression.

Purpose of the Study:

  • To identify frequent telomerase reverse transcriptase (TERT) gene mutations in upper tract urothelial carcinoma (UTUC).
  • To investigate the association between TERT mutations and UTUC prognosis and treatment.

Main Methods:

  • Literature search in Medline and Embase databases.
  • Inclusion of reviews and observational studies on TERT gene and upper tract UC.

Main Results:

  • TERT mutations are the most frequent genomic alterations in advanced upper tract UC.
  • C228T mutations correlate with distant metastasis in renal pelvis and ureteral cancers.
  • TERT mutations (C228T, C250T) in urine DNA demonstrate high sensitivity and specificity for UTUC detection.

Conclusions:

  • TERT gene promoter mutations are prevalent in upper tract UC.
  • C250T and C228T mutations are promising diagnostic biomarkers for UTUC, detectable via urine tests.
Keywords:
TERT genemutationupper tracturothelial carcinoma

More Related Videos

Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer08:34

Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer

Published on: April 13, 2015

10.4K
Patient-derived Orthotopic Xenograft Models for Human Urothelial Cell Carcinoma and Colorectal Cancer Tumor Growth and Spontaneous Metastasis09:28

Patient-derived Orthotopic Xenograft Models for Human Urothelial Cell Carcinoma and Colorectal Cancer Tumor Growth and Spontaneous Metastasis

Published on: May 12, 2019

10.3K

Related Concept Videos

Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
7.7K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.2K
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.7K
Telomeres and Telomerase02:41

Telomeres and Telomerase

In eukaryotic DNA replication, a single-stranded DNA fragment remains at the end of a chromosome after the removal of the final primer. This section of DNA cannot be replicated in the same manner as the rest of the strand because there is no 3’ end to which the newly synthesized DNA can attach. This non-replicated fragment results in gradual loss of the chromosomal DNA during each cell duplication. Additionally, it can induce a DNA damage response by enzymes that recognize single-stranded...
23.7K