Non-Invasive Detection of Bladder Cancer via Urinary DNA Mutation and Methylation Profiling Using Modified qPCR

Cystoscopy is the gold standard for bladder cancer diagnosis and surveillance but suffers from invasiveness and patient discomfort. Existing urine-based assays with single gene mutation or methylation biomarkers exhibit insufficient diagnostic efficacy, necessitating a reliable non-invasive detection approach. This study developed EpiMut-BC, a high-specificity urinary PCR assay integrating DNA mutation and methylation signatures based on pyrophosphorolysis-activated polymerization qPCR with engineered polymerases and blocked primers.