Tumor genetic urine test for hepatocellular carcinoma (HCC) screening.

e15640Background: HCC is an aggressive cancer with a 5-year survival rate of 26% if detected early (stages 1 & 2), and a mere 2% in late stages, with an approximate 50% recurrence rate in 2 years after treatment. The most commonly used HCC screening biomarker is serum alpha-fetoprotein (AFP), which detects only 40-60% of cases highlights the urgent need for a more sensitive test for HCC screening. We have previously shown that urine contains circulation-derived, cell-free DNA that can be used for detection of cancer-related DNA markers, if a tumor is present. This study evaluated the potential for developing a urine DNA test for HCC screening. Methods: We developed a urine DNA test for HCC screening using short amplicon PCR-based assays for the most frequent occurred genetic hotspot mutations in TP53 (codon 249), TERT (-124, promoter), and CTNNB1 (hotspot in exon 3, codons 32-37), and for aberrant DNA methylation in GSTP1 (mGSTP1) and RASSF1A (mRASSF1A) in HCC. The performance of this five-marker panel in...