cfDNA Key genomic markers in HCV-Induced hepatocellular carcinoma in Egyptian patients

Background: Malignant liver disease is among the highest in the world, with hepatocellular carcinoma (HCC) accounting for up to 90 % of all cases. In Egypt, HCC poses a significant public-health concern, representing 47.17 % of cancer cases. The high incidence of hepatitis C virus (HCV) in the Egypt...

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Main Authors: Mohamed Khalifa, Ahmed A. Hmed, Khaled S. Elfeky, Sayed Bakry, Manal El Hamshary, Ahmed R. Sofy
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Journal of Genetic Engineering and Biotechnology
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Online Access:http://www.sciencedirect.com/science/article/pii/S1687157X25000770
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author Mohamed Khalifa
Ahmed A. Hmed
Khaled S. Elfeky
Sayed Bakry
Manal El Hamshary
Ahmed R. Sofy
author_facet Mohamed Khalifa
Ahmed A. Hmed
Khaled S. Elfeky
Sayed Bakry
Manal El Hamshary
Ahmed R. Sofy
author_sort Mohamed Khalifa
collection DOAJ
description Background: Malignant liver disease is among the highest in the world, with hepatocellular carcinoma (HCC) accounting for up to 90 % of all cases. In Egypt, HCC poses a significant public-health concern, representing 47.17 % of cancer cases. The high incidence of hepatitis C virus (HCV) in the Egypt was a major predisposing factor for HCC. Material: This study included 63 Egyptian HCC patients, 55 % of whom had a history of HCV infection. Methods: Using a paired sampling strategy, approximately 2800 COSMIC mutations from 50 oncogenes and tumor-suppressor genes were NGS sequenced. Results: Total of 381 somatic mutations were identified, 91 mutations detected in the HCC group and 291 in the HCV-related HCC group. The top 10 mutated genes in the non-HCV group were TP53, ATM, EGFR, CDH1, FGFR1, MET, SMAD4, ERBB2, FLT3, and FBXW7, while in the HCV-related HCC group, genes were KIT, ATM, TP53, APC, FBXW7, KDR, RB1, SMAD4, EGFR, and PIK3CA. Conclusion: The present study represents the first comprehensive somatic mutation profile in HCC Egyptian patients. This finding suggests that HCV viral infection played a direct and indirect role in increasing the somatic mutation burden in HCV-related HCC patients and opens new promises of targeted therapies for those patients.
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spelling doaj-art-b5cbc4eae4924e3aa68768436dcc0e0e2025-08-24T05:11:50ZengElsevierJournal of Genetic Engineering and Biotechnology1687-157X2025-09-0123310053310.1016/j.jgeb.2025.100533cfDNA Key genomic markers in HCV-Induced hepatocellular carcinoma in Egyptian patientsMohamed Khalifa0Ahmed A. Hmed1Khaled S. Elfeky2Sayed Bakry3Manal El Hamshary4Ahmed R. Sofy5Zoology Department, Faculty of Science, Al-Azhar University, Nasr City, Cairo 11884, Egypt; Molecular Pathology Laboratory, Children Cancer Hospital, 57357 Cairo, Egypt; Corresponding author at: Zoology Department, Faculty of Science, Al-Azhar University, Nasr City, Cairo 11884, Egypt.Botany and Microbiology Department, Faculty of Science, Al-Azhar University, Nasr City, Cairo 11884, EgyptZoology Department, Faculty of Science, Al-Azhar University, Nasr City, Cairo 11884, EgyptCenter for Genetic Engineering- Al-Azhar University, Nasr City, Cairo 11884, EgyptMolecular Genetics and Molecular Diagnostics, Molecular Diagnostics and Therapeutics Department, Genetic Engineering and Biotechnology Research Institute, University of Sadat City, Menofia, EgyptBotany and Microbiology Department, Faculty of Science, Al-Azhar University, Nasr City, Cairo 11884, EgyptBackground: Malignant liver disease is among the highest in the world, with hepatocellular carcinoma (HCC) accounting for up to 90 % of all cases. In Egypt, HCC poses a significant public-health concern, representing 47.17 % of cancer cases. The high incidence of hepatitis C virus (HCV) in the Egypt was a major predisposing factor for HCC. Material: This study included 63 Egyptian HCC patients, 55 % of whom had a history of HCV infection. Methods: Using a paired sampling strategy, approximately 2800 COSMIC mutations from 50 oncogenes and tumor-suppressor genes were NGS sequenced. Results: Total of 381 somatic mutations were identified, 91 mutations detected in the HCC group and 291 in the HCV-related HCC group. The top 10 mutated genes in the non-HCV group were TP53, ATM, EGFR, CDH1, FGFR1, MET, SMAD4, ERBB2, FLT3, and FBXW7, while in the HCV-related HCC group, genes were KIT, ATM, TP53, APC, FBXW7, KDR, RB1, SMAD4, EGFR, and PIK3CA. Conclusion: The present study represents the first comprehensive somatic mutation profile in HCC Egyptian patients. This finding suggests that HCV viral infection played a direct and indirect role in increasing the somatic mutation burden in HCV-related HCC patients and opens new promises of targeted therapies for those patients.http://www.sciencedirect.com/science/article/pii/S1687157X25000770cfDNAHCVTumor signatureHCCNGSSomatic mutation
spellingShingle Mohamed Khalifa
Ahmed A. Hmed
Khaled S. Elfeky
Sayed Bakry
Manal El Hamshary
Ahmed R. Sofy
cfDNA Key genomic markers in HCV-Induced hepatocellular carcinoma in Egyptian patients
Journal of Genetic Engineering and Biotechnology
cfDNA
HCV
Tumor signature
HCC
NGS
Somatic mutation
title cfDNA Key genomic markers in HCV-Induced hepatocellular carcinoma in Egyptian patients
title_full cfDNA Key genomic markers in HCV-Induced hepatocellular carcinoma in Egyptian patients
title_fullStr cfDNA Key genomic markers in HCV-Induced hepatocellular carcinoma in Egyptian patients
title_full_unstemmed cfDNA Key genomic markers in HCV-Induced hepatocellular carcinoma in Egyptian patients
title_short cfDNA Key genomic markers in HCV-Induced hepatocellular carcinoma in Egyptian patients
title_sort cfdna key genomic markers in hcv induced hepatocellular carcinoma in egyptian patients
topic cfDNA
HCV
Tumor signature
HCC
NGS
Somatic mutation
url http://www.sciencedirect.com/science/article/pii/S1687157X25000770
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