ArticleEBioMedicine2020
Urinary TERT promoter mutations are detectable up to 10 years prior to clinical diagnosis of bladder cancer: Evidence from the Golestan Cohort Study.
Article in EBioMedicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Epigenetic Changes Induced by Carcinogenic Agents or Occupational Exposure with Sufficient Evidence for Bladder Cancer.Cancer prevention research (Philadelphia, Pa.) · 2025Pooled it
- Liquid biopsy based on multi-targeted capture of urinary tumor DNA combined with machine learning to detect urothelial carcinoma: a multicenter prospective study.International urology and nephrology · 2026Article
- Review
- Article
- Effect of co-occurring mutations inFrontiers in immunology · 2026Article
- Developing a prediction model in a large case-control study for the early detection of bladder cancer.Journal of translational medicine · 2025Article
- Virus-induced APOBEC3 transmutagenesis in bladder cancer initiation.Science advances · 2025Article
- Monitoring circulating tumor DNA by recurrent hotspot mutations in bladder cancer.BJC reports · 2025Article
- Unleashing the power of urine‑based biomarkers in diagnosis, prognosis and monitoring of bladder cancer (Review).International journal of oncology · 2025Review
- Telomeres, telomerase, and cancer: mechanisms, biomarkers, and therapeutics.Experimental hematology & oncology · 2025Review
- A Review of Telomere Attrition in Cancer and Aging: Current Molecular Insights and Future Therapeutic Approaches.Cancers · 2025Review
- Circulating tumor DNA: a revolutionary approach for early detection and personalized treatment of bladder cancer.Frontiers in pharmacology · 2025Review
- TERT promoter mutations or protein overexpression define an aggressive subset with favourable immunotherapeutic response in advanced urothelial carcinoma.BMJ oncology · 2025Article
- Diagnostic performance of Uromonitor and TERTpm ddPCR urine tests for the non-invasive detection of bladder cancer.Scientific reports · 2024Article
- Liquid biopsy in cancer current: status, challenges and future prospects.Signal transduction and targeted therapy · 2024Review
- Article
- Novel method for detecting frequent TERT promoter hot spot mutations in bladder cancer samples.Clinical and experimental medicine · 2024Article
- Cell-Free Tumor DNA Detection-Based Liquid Biopsy of Plasma and Bile in Patients with Various Pancreatic Neoplasms.Biomedicines · 2024Article
- A Molecular Urine Assay to Detect Recurrences During Surveillance of High-Risk Non-Muscle Invasive Bladder Cancer.Bladder cancer (Amsterdam, Netherlands) · 2024Article
- Somatic Mutation of the Non-Muscle-Invasive Bladder Cancer Associated with Early Recurrence.Diagnostics (Basel, Switzerland) · 2023Article
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Authors and funding
29 authors at 12 institutions in 8 countries.
Funding
Abstract
backgroundDetecting pre-clinical bladder cancer (BC) using urinary biomarkers may provide a valuable opportunity for screening and management. Telomerase reverse transcriptase (TERT) promoter mutations detectable in urine have emerged as promising BC biomarkers.
methodsWe performed a nested case-control study within the population-based prospective Golestan Cohort Study (50,045 participants, followed up to 14 years) and assessed TERT promoter mutations in baseline urine samples from 38 asymptomatic individuals who subsequently developed primary BC and 152 matched controls using a Next-Generation Sequencing-based single-plex assay (UroMuTERT) and droplet digital PCR assays.
findingsResults were obtained for 30 cases and 101 controls. TERT promoter mutations were detected in 14 pre-clinical cases (sensitivity 46·67%) and none of the controls (specificity 100·00%). At an estimated BC cumulative incidence of 0·09% in the cohort, the positive and negative predictive values were 100·00% and 99·95% respectively. The mutant allelic fractions decreased with the time interval from urine collection until BC diagnosis (p = 0·033) but the mutations were detectable up to 10 years prior to clinical diagnosis.
interpretationOur results provide the first evidence from a population-based prospective cohort study of the potential of urinary TERT promoter mutations as promising non-invasive biomarkers for early detection of BC. Further studies should validate this finding and assess their clinical utility in other longitudinal cohorts.
fundingFrench Cancer League, World Cancer Research Fund International, Cancer Research UK, Tehran University of Medical Sciences, the International Agency for Research on Cancer, and the U.S. National Cancer Institute.
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