NGS detection of PIK3CA somatic mutations in HCC Egyptians | ||||
African Journal of Biological Sciences | ||||
Articles in Press, Accepted Manuscript, Available Online from 13 May 2022 | ||||
Document Type: Original Article | ||||
DOI: 10.21608/ajbs.2022.127925.1028 | ||||
View on SCiNiTO | ||||
Authors | ||||
AMR Shugaa Addin 1; Randa Talaat2; Moustafa Sakr2; Ghada M Nasr2; Mohamed K Khalifa3; Ehab A Ahmed4; Manal O El Hamshary2 | ||||
1Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City | ||||
2Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City. | ||||
3Technical advisor molecular pathology lab. children cancer hospital 57357. Chief scientific officer omicsense company | ||||
4Chemistry department Faculty of Science Cairo University, Medical Genome center Faculty of medicine Cairo university | ||||
Abstract | ||||
Abstract: Background: Hepatocellular carcinoma (HCC) is the tertiary greatest communal malignant cancer that origins mortality globally. A high prevalence of return means that even while cancer is getting more treatable in its early stages, advanced cases have a bad prognosis. To properly treat HCC, it is now necessary to understand its pathogenic process and its associated genetic abnormalities. Purpose: NGS was used to discover PIK3CA somatic mutations in HCC Egyptian patients. Methods: A unique NGS panel (AmpliSeq) containing the PIK3CA gene was utilized to examine 21 liquid biopsy samples from patients with HCC Results: Over 40 SNV mutations were recognized in PIK3CA gene with an incidence of 85.7%. The changes were dispersed between deleterious, undefined significance, and tolerated deviations, where the preponderance of the changes were the missense variants (68%), synonymous (25%), and (7%) for stop-gained. Conclusion: The present study illustrated numerous somatic mutations of PIK3CA which may assist in the etiology of HCC. | ||||
Keywords | ||||
Keywords: PIK3CA; HCC; Mutation; SNV; NGS | ||||
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