Toward Personalised Liquid Biopsies for Urothelial Carcinoma: Characterisation of ddPCR and Urinary cfDNA for the Detection of the 228 G>A/T Mutation.

Background: promotor mutations are present in >75% of bladder tumours; these mutations are also detectable in urine. Previous studies have used urinary pellet DNA, and semi-quantitative methods unsuitable for detecting very low mutant allele frequencies.

Objective: In this proof-of-principle study we use ddPCR to count the DNA molecules with wt and mutant sequences in urinary cfDNA from patients whose bladder cancers harbour mutations.