Urinary TERT promoter mutations as non-invasive biomarkers for the comprehensive detection of urothelial cancer.

ABSTRACT:

Background

Recurrent mutations in the promoter of the telomerase reverse transcriptase (TERT) gene (C228T and C250T) detected in tumours and cells shed into urine of urothelial cancer (UC) patients are putative biomarkers for UC detection and monitoring. However, the possibility of detecting these mutations in cell-free circulating DNA (cfDNA) in blood and urine, or DNA from urinary exfoliated cells (cellDNA) with a single-gene sensitive assay has never been tested in a case-control setting.

Methods

We developed a single-plex assay (UroMuTERT) for the detection of low-abundance TERT promoter mutations. We tested 93 primary and recurrent UC cases and 94 controls recruited in France (blood, urine samples and tumours for the cases), and 50 primary UC cases and 50 controls recru

SUBMITTER: Avogbe PH 

PROVIDER: S-EPMC6603852 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature