Urine as a non-invasive alternative to blood for germline and somatic mutation detection in hepatocellular carcinoma

Cell-free DNA (cfDNA) from blood has become a promising analyte for cancer diagnostics and monitoring. However, because blood contains high concentrations of proteins and enzyme inhibitors, plasma cfDNA quality can vary. Urinary cfDNA has been shown to contain mutations associated with non-genitourologic cancers including hepatocellular carcinoma (HCC). In this study, we evaluate urine as a noninvasive alternative to blood-based liquid biopsy for both germline and somatic genotyping in HCC.