Comparison and combination of mutation and methylation-based urine tests for bladder cancer detection.

ABSTRACT:

Background and aims

Several non-invasive tests for detecting bladder cancer (BC) are commercially available and are based on detecting small panels of BC-associated mutations and/or methylation changes in urine DNA. However, it is not clear which type of biomarker is best, or if a combination of the two is needed. In this study we address this question by taking a 23-gene mutation panel (GALEAS™ Bladder, GB) and testing if adding a panel of methylation markers improves the sensitivity of BC detection.

Methods

Twenty-three methylation markers were assessed in urine DNA by bisulphite conversion, multiplex PCR, and next generation sequencing in 118 randomly selected haematuria patients with pre-existing GB data (56 BCs and 62 non-BCs), split into training and test sets. We also

SUBMITTER: Gordon NS 

PROVIDER: S-EPMC11542462 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature