Next-generation sequencing (NGS) detection of PIK3CA somatic mutations in Hepatocellular carcinoma (HCC) Egyptians

Shugaa Addin, Amr M.; Talaat, Randa M; Sakr, Moustafa A; Khalifa, Mohamed K; Ahmed, Ehab A; Nasr, Ghada M; El Hamshary, Manal O

doi:10.21608/ajbs.2022.230601

Next-generation sequencing (NGS) detection of PIK3CA somatic mutations in Hepatocellular carcinoma (HCC) Egyptians

Document Type : Original Article

Authors

¹ Molecular diagnostics and therapeutics department,GEBRI.University of Sadat city

² Children Cancer Hospital 57357, Egypt

³ Department of Molecular Diagnostic and Therapeutic, Genetic Engineering & Biotechnology Research Institute, University of Sadat City, Egypt

⁴ Chemistry department, Faculty of science, Cairo University, Egypt.

10.21608/ajbs.2022.230601

Abstract

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. The next-generation sequencing (NGS) was used to discover PIK3CA somatic mutations in HCC Egyptian patients. In the present study a unique NGS panel (AmpliSeq) containing the PIK3CA gene was utilized to examine 21 liquid biopsy samples from patients with HCC. The results indicated that over 40 -single-nucleotide-variation (SNV) were recognized in PIK3CA gene with 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. It was concluded from this research that detection of numerous somatic mutations of PIK3CA can assist in the etiology of HCC.

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