الفهرس 
Breast cancerOnly 14 pages are availabe for public view
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Abstract
In the current study, the correlation between DNMT3B A149 C>T SNP and JEMS’3’-UTR 1494del6 polymorphism and susceptibility to breast cancer in Egyptian women was unravelled. One hundred female breast cancer patients and one hundred healthy control from Alexandria were enrolled in the present study. Genomic DNA from all subjects was isolated and purified from the whole blood to be used in genotyping of DNMT3B A149 C>T SNP and TYMS 3’-UTR \A9Adel6 polymorphism. Genotyping of DNMT3B A149 C>T SNP and TYMS 3’-UTR \A9Adel6 polymorphism was carried out by PCR-RFLP using Avr 11 and Dral, respectively. In addition, sequencing of PCR products from some samples was performed to confirm the validity of genotyping results. On the other hand, the levels of DNMT3B and TYMS gene expression was assessed in tumour tissue and normal adjacent tissue from the same patients by quantitative real time PCR (qRT-real time PCR).
Present results show that there is no association between breast cancer risk and clinico- pathological characters such as smoking status and breast feeding in patients. The frequencies of DNMT3B A149 C>T SNP (genotype CT) was 58% and 17% in patients and control subjects, respectively. There is a significant correlation of breast cancer risk and DNMT3B A149 C>T SNP (genotype CT). The mutant genotype (-6/-6) frequencies of TYMS 3’-UTR 1494del6 were 62% and 31% in patients and control subjects, respectively. Hence, the genotype (-6/-6) of TYMS 3’- UTR \A9Adel6 polymorphism did exhibit a significant association with breast cancer risk in Egyptian women.
Statistical analysis of data revealed that the expression of DNMT3B A149 C>T in tumor tissues was up-regulated by 1.65 fold when compared to that of normal adjacent tissues. However, there was no significant difference in the level of TYMS between tumor tissues and normal adjacent tissues.