Identification of the somatic mutations of SMAD4 among HCC Egyptian patients using NGS

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

Gene Reports（2022）

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摘要

•In HCC Egyptian patients, the average percentage of mutant SMAD4 was around 85.7%.•In this study, there was no link between the mutant SMAD4 gene and the clinicopathological characteristics.•The next-generation sequencing (NGS) technique is one of the most essential tools for genetic diagnosis.•When compared to recent studies, ethnicity and sample size may have contributed to the variability of our findings.

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关键词

A470T,ABL1,AKT1,ALK,APC,AXIN1,BCLC,BMP,CCND1,CDKN2A,COSMIC,CTNNB1,DM,DNA,dsSNP,E108D,E108Q,E109Q,EDTA,G1,GWAS,H105D,HBV,HCC,HCV,HTN,IGF2R,IGV,IHD,L109Q,MNV,mRNA,NGS,P470T,PGM,POLYPHEN,Q446K,qPCR,RBI,S,SIFT,SMAD4,SNV,SPSS,TGF-β,TM,TP53,V126A,VEP,VHL

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