Background: Epidermal growth factor receptor (EGFR) and Kirsten rat sarcoma viral oncogene homolog (K-RAS) are the most common driver genes in patients with non-small cell lung cancer adenocarcinomas (NSCLC/ADC), which affects treatment. Therefore, this study determines the frequency and patterns of EGFR and K-RAS mutations in Egyptian patients with NSCLC/ADC and correlates them with clinicopathological features. Methods: A retrospective analysis of 139 patients diagnosed with NSCLC/ADC and screened for EGFR and K-RAS mutations was conducted; further evaluating clinicopathological characteristics and mutational status. Results: This study included 101 males and 38 females with a median age of 57.7 ± 10.5 years. EGFR mutations were detected in 22.3% (12.2% in exon 19, 8.6% in exon 21, and 1.4% in exon 18) and K-RAS mutations in 17.3% (15.8% in codon 12 and 1.4% in codon 13), whereas combined mutations were detected in nine patients (6.5%). Furthermore, EGFR mutations were non-significantly more common in females and nonsmokers, contradicting K-RAS mutations, which were more common in males and smokers. Conclusion: EGFR and K-RAS mutations are common in Egyptian patients with NSCLC/ADC (National Cancer Institute experience). Their incidences were between the Asian Pacific and Europeans. Also, their mutations led to dysregulation in tyrosine kinase activity, which correlates with the late disease stage and poor progression. Therefore, analyzing them should be done to determine a better treatment method and predict survival outcomes.
Background: The severity of chronic hepatitis C and susceptibility to hepatocellular carcinoma (HCC) are currently associated with specific genetic variations within vitamin D receptor (VDR). This study aims to assess the association of VDR and vitamin D binding protein (DBP) gene polymorphisms with HCC susceptibility in Egyptian cirrhotic HCV patients. Methods: Single nucleotide polymorphisms (SNPs) in the VDR (rs2228570, rs3782905, rs11568820) and DBP rs7041 genes were genotyped using single-stranded polymorphism PCR (SSP-PCR) or restriction fragment length-PCR (RFLP-PCR) techniques. These SNPs genotypes, haplotypes and linkage disequilibrium analyses were examined in 299 Egyptian individuals (100 HCV-cirrhotic patients, 99 HCC- HCV patients, and 100 healthy controls). Logestic regression analysis was also applied to determine association with HCC progression risk. Result: The VDR rs2228570 CC genotype, VDR rs3782905 GC and CC genotypes, and DBP rs7041 GG genotype are significantly correlated with a higher risk of HCC. It is noteworthy that, VDR rs3782905 CC and DBP rs7041 TG genotypes are more associated with higher risk of HCV induced liver cirrhosis than with HCC progression in HCV infected patients. Furthermore, among patients, the relationship between these SNPs and smoking status, gender, and HCC susceptibility was reported. Conclusion: Among the four investigated SNPs, there is an association between VDR rs3782905 and DBP rs7041 and the HCC progression in Egyptian patients chronically infected with HCV. The combinations of these SNPs with smoking status and gender are statistically linked to a high risk of HCC. These results suggest that VDR polymorphisms may be potential determinants for HCC susceptibility in Egyptian HCV patients.
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