Identification of Novel TERT Promoter Mutations in Chronic Hepatitis B-Induced HCC Patients in Burkina Faso

Introduction: Hepatocellular carcinoma (HCC) is one of the serious complications of chronic hepatitis B virus (HBV) infection and constitutes a major global public health problem. Several factors contribute to the development of this cancer, the genetic aspect of which is linked to mutations in genes such as the human telomerase reverse transcriptase (TERT) gene. This gene plays a crucial role in maintaining telomeres. Genetic alterations in this gene can result in a defect in the continuous synthesis of telomeres, reducing the sensitivity of cells to apoptosis. Method: This was a descriptive study in which 97 patients were enrolled. TERT promoter mutations were characterized using Sanger sequencing technology and the functionality of the mutations identified was validated using cell culture techniques. Results: Our study showed that patients with unknown etiology status were mainly affected by mutations at positions G176A, G113T and C123G (100%). Patients with cirrhosis were mainly affected by these SNPs. Conclusion: This study mainly identified 21 new SNPs in the TERT promoter and identified the function of certain mutations. Only the G228T or G228A mutation in our cohort is functional.