Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Background: Hepatocellular carcinoma (HCC) is the sixth most common cancer worldwide. Because of its high fatality rates, the incidence and mortality rate are approximately equal. Thus, the pathogenesis of liver diseases has been extensively studied focusing on genetic factors which have a major role. One of these genetic factors is suppressor gene RASSF1A, particularly single nucleotide polymorphism in RASSF1A gene called Ala133Ser (rs2073498). Objective: To study if Ala133Ser polymorphism of the RASSF1A gene is associated with increased risk of HCC in Egyptian population. Methods: The study included 50 patients with HCC and 50 healthy subjects. They were subjected to genotyping for RASSF1A gene Ala133Ser polymorphism using Restriction fragment length polymorphism (RFLP) technique. Results: (Ala/Ser+ Ser/Ser) genotype frequency was significantly higher in HCC patients as compared to healthy subjects (P=0.000); also Ser allele frequency was significantly higher in HCC patients as compared to healthy subjects [OR 1.86, 95% CI (1.008-3.432)]( P= 0.032). Conclusion: The results of this study may suggest a role of RASSF1A gene Ala133Ser polymorphisms in HCC in Egyptian population.

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