FGFR1 Mutations as Key Drivers of Hepatocellular Carcinoma in Egyptian Patients: A Genomic Analysis Using Next-Generation Sequencing | ||
| African Journal of Biological Sciences | ||
| Articles in Press, Accepted Manuscript, Available Online from 26 September 2025 | ||
| Document Type: Original Article | ||
| DOI: 10.21608/ajbs.2025.424981.1138 | ||
| Authors | ||
| Aya Abdelwahab* 1; Randa M Talaat2; Moustafa A. Sakr3; Mohamed K Khalifa4; Ehab A. Ahmed5; mohamed A. selim6; Manal O. El Hamshary7; Ghada M Nasr2 | ||
| 1Molecular diagnostics, University of Sadat city | ||
| 2Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City. | ||
| 3epartment of Molecular Diagnostics and Therapeutics, Genetic Engineering and Biotechnology Research Institute (GEBRI), University of Sadat City, Sadat City 32897, Egypt | ||
| 4Technical advisor molecular pathology lab. children cancer hospital 57357. Chief scientific officer omicsense company | ||
| 5Chemistry Department, Faculty of Science, Cairo University, Cairo, Egypt Medical Genome Center Faculty of Medicine, Cairo University, Cairo, Egypt, | ||
| 6Immunology Botany and Microbiology Department, Faculty of Science (boys), AL-Azhar University, Egypt. | ||
| 7Department of Molecular Diagnostics and Therapeutics, Genetic Engineering and Biotechnology Research Institute (GEBRI), University of Sadat City, Sadat City 32897, Egypt | ||
| Abstract | ||
| Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related mortality worldwide and is frequently associated with chronic hepatitis B or C virus infection. Despite advances in early detection and treatment, advanced HCC remains difficult to manage due to high recurrence rates and poor prognosis. A deeper understanding of the molecular mechanisms and genetic alterations underlying the disease is crucial for developing more effective therapeutic strategies. Fibroblast growth factor receptor 1 (FGFR1) has been implicated in oncogenesis, but its specific role in HCC is not well defined. In this study, circulating cell-free DNA from 21 Egyptian patients with HCC was analyzed using a targeted next-generation sequencing approach with complete FGFR1 gene coverage. A total of 27 single-nucleotide variants (SNVs) were identified, accounting for 87.1% of the detected alterations. These included synonymous (3.7%), non-synonymous (48.15%), and coding sequence variants (48.15%), distributed across regions predicted to be deleterious, of uncertain significance, or likely tolerated. The identification of multiple somatic FGFR1 mutations highlights its potential contribution to hepatocarcinogenesis and suggests that FGFR1 could represent a relevant molecular marker and therapeutic target in HCC, warranting further functional and clinical validation. | ||
| Keywords | ||
| FGFR1 gene; Hepatocellular carcinoma; Next generation sequencing; DNA extraction; Genetic alternations | ||
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