Activating Telomerase TERT Promoter Mutations and Their Application for the Detection of Bladder Cancer.

ABSTRACT: This review summarizes state-of-the-art knowledge in early-generation and novel urine biomarkers targeting the telomerase pathway for the detection and follow-up of bladder cancer (BC). The limitations of the assays detecting telomerase reactivation are discussed and the potential of transcription-activating mutations in the promoter of the TERT gene detected in the urine as promising simple non-invasive BC biomarkers is highlighted. Studies have shown good sensitivity and specificity of the urinary TERT promoter mutations in case-control studies and, more recently, in a pilot prospective cohort study, where the marker was detected up to 10 years prior to clinical diagnosis. However, large prospective cohort studies and intervention studies are required to fully validate their robustness a

SUBMITTER: Zvereva M 

PROVIDER: S-EPMC7503716 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature