SOMATIC MUTATIONS IDENTIFICATION OF FGFR3 AMONG HCC EGYPTIAN PATIENTS USING NGS
Abstract
One of the most prevalent malignancies in the world, hepatocellular carcinoma (HCC), has a high fatality rate. Non-invasive biomarkers are desperately needed to help in HCC screening and early diagnosis. Next-generation sequencing has advanced, and genetic indicators are now the mainstay of cancer detection. Early HCC diagnosis now focuses on genetic indicators such circulating tumour DNA in peripheral blood. Overexpression of the fibroblast growth factor receptor 3 (FGFR3) splice variants FGFR3-IIIb and FGFR3-IIIc was found in ~50% of hepatocellular carcinoma (HCC). FGFR3 gene mutations were not associated with an increased risk of HCC in the Egyptian population. However, it could have a probable role in the pathogenesis of liver cell failure, HCC development, and prognosis, as the present study identified several novel mutations involved in HCC using NGS. The results of the present study provide resources for understanding the molecular alterations underlying the development of HCC. However, further investigations with larger sample sizes are required to fully examine genetic alteration in HCC development.
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