CTNNB1 polymorphism (rs121913407) in circulating tumor DNA (ctDNA) in Egyptian hepatocellular carcinoma patients

Abstract Background Hepatocellular carcinoma (HCC) represents the sixth most common cancer worldwide and the fourth in Egypt. Persistent inflammation and specific somatic mutations in driving genes play a major role in the development of HCC. One of these somatic mutations is CTNNB1 mutations with subsequent activation of β-catenin in HCC, associated with a risk of malignant transformation. In this study, we investigate the clinical utility of peripheral blood circulating tumor DNA (ctDNA) CTNNB1 (rs121913407) in HCC patients compared to pathological chronic hepatitis C virus (HCV) patients and healthy controls. Methods Our study is a case-control study at the Ain Shams Centre for Organ Transplantation, Ain Shams University Hospitals, enrolling twenty-eight adult HCC patients (twelve early HCC patients and sixteen advanced HCC patients), ten patients with chronic hepatitis C as a disease control group, and ten healthy controls. We collected plasma and stored at −80 °C. We detected mutations in the gene locus CTNNB1 rs121913407 by real-time PCR. Results All of our studied cases (early and advanced HCC) in addition to HCV and healthy control groups were CTNNB1 wild (TT) genotype. There was statistical significant difference between early and late cases of HCC as regards AFP and AST. Conclusions None of our recruited subjects showed CTNNB1 rs121913407 gene mutation. Further studies on larger number of patients are needed to clarify and confirm the clinical utility of CTNNB1 single-nucleotide polymorphism in the pathogenesis of HCC related to HCV in Egyptian population