NGS detection of PIK3CA somatic mutations in HCC Egyptians

Document Type : Original Article

Authors

1 Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City

2 Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City.

3 Technical advisor molecular pathology lab. children cancer hospital 57357. Chief scientific officer omicsense company

4 Chemistry 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

African Journal of Biological Sciences

Articles in Press, Accepted Manuscript
Available Online from 13 May 2022

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