الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
Background: Hepatocellular carcinoma (HCC) is the most common form of liver cancer and accounts for " ~ "90% of cases. Egypt ranks the third and 15th most populous country in Africa and worldwide, respectively. Most HCC patients are often diagnosed in an advanced stage with poor prognosis. Thus, it is very important to explore the novel diagnosis markers for HCC. Approximately 25% of all HCCs present with potentially genetic variations, so various studies of cancer genomes have shown that the genetic variations may play an important role in the cancer progression and pathogenesis. Copy number variation (CNV) of (B-cell CLL/ lymphoma 9) BCL9 gene is a type of structural variation which can influence gene expression and can be associated with specific phenotypes and diseases and has role in hepatocarcinogenesis. Aim: This study aimed at exploring the CNV level of BCL9 in 1q21.2 genomic region in chromosome-1 in the circulating-free DNA of hepatitis C virus (HCV) -related HCC Egyptian patients and healthy individuals and assessing the role of BCL9 CNV on HCC patients for early detection and differential diagnosis of hepatocellular carcinoma (HCC). Methods: Ten healthy individuals and fifty HCV-related HCC patients were selected in the current study; 50 HCV-related HCC patients include 25 early HCC and 25 late HCC cases. The copy number of BCL9 gene has been carried out within the healthy controls and HCC infected patients by the technique of quantitative polymerase chain reaction (qPCR). Results: A highly significant association in gender, BCLC, bilharziasis, performance status, child score class, child grade, focal lesion size, thrombosed portal vein and ascites, and creatinine was observed in early compared with late HCC patients. BCL9 CN was detected as gain in 14% of patients and all of them were males, also the ratio of BCL9 CN gain in late individuals was about 1.33 times of in early HCC individuals. Moreover, our results showed that the distribution of performance status >1, average and enlarged liver, focal lesion size, thrombosed portal vein and AFP was higher in patients with BCL9 CN gain. Conclusion: we detected about 14% CNV gain of BCL9 gene in Egyptian HCC patients. However, variation in copy number (CN) of BCL9 gene did not affect HCC development in the studied patients cohort.