ArticleBJU international2019
Targeted deep sequencing of urothelial bladder cancers and associated urinary DNA: a 23-gene panel with utility for non-invasive diagnosis and risk stratification.
Article in BJU international, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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37 citing papers in PubMed, 57 citations in OpenAlex.
- Image directed redesign of bladder cancer treatment pathways: the BladderPath RCT.Health technology assessment (Winchester, England) · 2024Trial
- Evolution or revolution - the GALEAS Bladder molecular urine test for triaging patients with haematuria.Nature reviews. Urology · 2026Article
- Urinary DNA Extraction in Uro-Oncology and Selected Non-Urological Malignancies: A Narrative Review.Journal of clinical medicine · 2026Review
- Real-World Evaluation of UromonitorCancers · 2026Article
- Pan-Cancer Targeted Sequencing Reveals Genomic Heterogeneity and Prognostic Subgroups in Urothelial Bladder Cancer.Cancers · 2026Article
- Diagnostic Performance and Clinical Utility of the UromonitorDiagnostics (Basel, Switzerland) · 2026Review
- Prediction of Postoperative Intravesical Recurrence Using Urine DNA Monitoring in Nonmuscular-Invasive Urothelial Bladder Cancer.International journal of urology : official journal of the Japanese Urological Association · 2026Article
- Cell-free Tumor DNA: a Promising Technology for Diagnosis, Surveillance and Therapeutic Decision in Urothelial Carcinoma of the Bladder.Current oncology reports · 2025Review
- Predictive Molecular Biomarkers of Bladder Cancer Identified by Next-Generation Sequencing-Preliminary Data.Journal of clinical medicine · 2024Article
- Comparison and combination of mutation and methylation-based urine tests for bladder cancer detection.Biomarker research · 2024Article
- Prediction of HER2 Status Based on Deep Learning in H&E-Stained Histopathology Images of Bladder Cancer.Biomedicines · 2024Article
- Urine biomarkers in bladder cancer - current status and future perspectives.Nature reviews. Urology · 2023Review
- Article
- Development of a Sensitive Digital Droplet PCR Screening Assay for the Detection ofBiomedicines · 2023Article
- Properties of non-coding mutation hotspots as urinary biomarkers for bladder cancer detection.Scientific reports · 2023Article
- The Roles of miRNAs in Predicting Bladder Cancer Recurrence and Resistance to Treatment.International journal of molecular sciences · 2023Review
- An Association Study of Germline Variants in Bladder Cancer-Related Genes with the Prognosis of Non-Muscle Invasive Bladder Cancer.Bladder cancer (Amsterdam, Netherlands) · 2023Article
- TERT Promoter Mutations as Simple and Non-Invasive Urinary Biomarkers for the Detection of Urothelial Bladder Cancer in a High-Risk Region.International journal of molecular sciences · 2022Article
- Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.Genome medicine · 2022Article
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20 authors at 5 institutions in 2 countries.
Funding
Abstract
objectivesTo develop a focused panel of somatic mutations (SMs) present in the majority of urothelial bladder cancers (UBCs), to investigate the diagnostic and prognostic utility of this panel, and to compare the identification of SMs in urinary cell-pellet (cp)DNA and cell-free (cf)DNA as part of the development of a non-invasive clinical assay. PATIENTS AND
methodsA panel of SMs was validated by targeted deep-sequencing of tumour DNA from 956 patients with UBC. In addition, amplicon and capture-based targeted sequencing measured mutant allele frequencies (MAFs) of SMs in 314 urine cpDNAs and 153 urine cfDNAs. The association of SMs with grade, stage, and clinical outcomes was investigated by univariate and multivariate Cox models. Concordance between SMs detected in tumour tissue and cpDNA and cfDNA was assessed.
resultsThe panel comprised SMs in 23 genes: TERT (promoter), FGFR3, PIK3CA, TP53, ERCC2, RHOB, ERBB2, HRAS, RXRA, ELF3, CDKN1A, KRAS, KDM6A, AKT1, FBXW7, ERBB3, SF3B1, CTNNB1, BRAF, C3orf70, CREBBP, CDKN2A, and NRAS; 93.5-98.3% of UBCs of all grades and stages harboured ≥1 SM (mean: 2.5 SMs/tumour). RAS mutations were associated with better overall survival (P = 0.04). Mutations in RXRA, RHOB and TERT (promoter) were associated with shorter time to recurrence (P < 0.05). MAFs in urinary cfDNA and cpDNA were highly correlated; using a capture-based approach, >94% of tumour SMs were detected in both cpDNA and cfDNA.
conclusionsSMs are reliably detected in urinary cpDNA and cfDNA. The technical capability to identify very low MAFs is essential to reliably detect UBC, regardless of the use of cpDNA or cfDNA. This 23-gene panel shows promise for the non-invasive diagnosis and risk stratification of UBC.
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