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

¹ Université Joseph KI-ZERBO, Laboratoire de Biologie Moléculaire et de Génétique (LABIOGENE), Ouagadougou, Burkina Faso
² Division of Hematology and Medical Oncology, Mayo Clinic Arizona, Scottsdale, AZ, USA
³ Université Joseph KI-ZERBO, Laboratoire de Biologie Moléculaire et de Génétique (LABIOGENE), Ouagadougou, Burkina Faso
⁴ Université Joseph KI-ZERBO, Laboratoire de Biologie Moléculaire et de Génétique (LABIOGENE), Ouagadougou, Burkina Faso
⁵ Centre de Recherche Biomoléculaire Pietro Annigoni (CERBA), Ouagadougou, Burkina Faso
⁶ Centre de Recherche Biomoléculaire Pietro Annigoni (CERBA), Ouagadougou, Burkina Faso
⁷ Division of Hematology and Medical Oncology, Mayo Clinic Arizona, Scottsdale, AZ, USA
⁸ Département de Médecine, Université Joseph KI-ZERBO, Ouagadougou, Burkina Faso
⁹ Centre National de la Recherche Scientifique et Technologique, Institut de Recherche en Sciences de la Santé, Ouagadougou, Burkina Faso
¹⁰ Département de Médecine, Université Joseph KI-ZERBO, Ouagadougou, Burkina Faso
¹¹ Laboratory of Infectious Diseases/Microbiology, University of Pittsburgh, Pittsburgh, PA, USA
¹² Université Joseph KI-ZERBO, Laboratoire de Biologie Moléculaire et de Génétique (LABIOGENE), Ouagadougou, Burkina Faso
¹³ Department of Biological Sciences and Chemistry, College of Sciences and Engineering, Southern University and A&M College, Baton Rouge, LA, USA
¹⁴ Université Daniel Ouezzin Coulibaly, Dédougou, Burkina Faso
¹⁵ Université Joseph KI-ZERBO, Morphology and Organogenesis Laboratory (LAMO), UFR/SDS, Ouagadougou, Burkina Faso
¹⁶ Gastroenterology and Hepatology, Mayo Clinic Rochester, Rochester, MN, USA
¹⁷ Division of Hematology and Medical Oncology, Mayo Clinic Arizona, Scottsdale, AZ, USA
¹⁸ Division of Hematology and Medical Oncology, Mayo Clinic Arizona, Scottsdale, AZ, USA
¹⁹ Université Joseph KI-ZERBO, Laboratoire de Biologie Moléculaire et de Génétique (LABIOGENE), Ouagadougou, Burkina Faso

American Journal of Molecular Biology·Volume 16 (2026)·Pages 46–59·Published 4 January 2026·DOI10.4236/ajmb.2026.161004

Abstract

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.

KeywordsCHCChronic HepatitisCirrhosisTERT PromoterBurkina Faso

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

Abstract

References (27)