Detection of Promoter Hypermethylation of GSTP1 and CDH1 Genes and the Relationship of Histopathological Parameters of the Breast

Background: Breast cancer is the most common cancer in women. Histopathology plays an important part in determining the treatment strategy for women with breast cancer. GSTP1 plays an important role in protecting cells from cytotoxic and carcinogenic agents and it is expressed in normal tissues at variable levels in different cell types. CDH1 plays a critical role for establishment and maintenance of polarity and differentiation of epithelium during the development period. Also, it plays an important role in signal transduction, differentiation, gene expression, cellmotility and inflammations. Methods: In this study the promoter methylation levels of GSTP1 and CDH1 gene which are associated with breast cancer were investigated by technique of Methylation Sensitive High Resolution Melting Analysis (MS-HRM). We analysed primary tumor core biopsies from 80 high-risk primary breast cancer patients (tumors ≥ 2 cm and/or lymphatic metastase and/or distant metastases and/or under 40 years). Also the patients’ histopathologic types were associated with the methylation levels. Results: In our study the promoter hypermethylation status was observed at different rates;GSTP1 and CDH1 hypermethylation frequencies were 82% and 95% respectively. The promoter hypermethylation levels of the genes were found to be significant with lymph node positivity, ER positivity and HER2/neu negativity. Conclusion: Our study is important as being the first study that analyzes association between histopathologic type and GSTP1 and CDH1 gene promotor methylation status in Turkish population.

Association of eleven single nucleotide polymorphisms with refractive disorders from Eskisehir,Turkey

AIM:To investigate relationship between refractive errors and eleven single nucleotide polymorphisms(SNPs)in HGF,GC,MFN1,GNB4,and VDR genes in Turkish population.METHODS:A group of 212 participants with myopia(n=91),hyperopia(n=45),and emmetropia(n=76)were investigated in this study.SNPs in HGF,GC,MFN1,GNB4 and VDR genes were studied by Snap Shot technique.RESULTS:The patients in this study consists of 47 female/44 male(age:23.47±4.30)patients with myopia,20 female/25 male(age:31.20±8.02)with hyperopia and 33 female/43 male(age:25.22±6.60)with emmetropia.The genotype distribution of the rs7618348 polymorphism,which was the only statistically significant one between myopia and emmetropia group.The genotype distribution of the rs3819545,rs3735520,rs7041,and rs2239182 polymorphisms,which were statistically significant between hyperopia and emmetropia groups.CONCLUSION:The importance of genetic predisposition to refractive errors with respect to etiology of the disease is revealed.It is known that polymorphism studies may differ because of genetic diversity among populations so larger cohort studies are required in different populations to enlighten the etiology of the refractive errors.

Investigation of DNAmethylation of TWIST Gene in Breast Cancer and Its Relationship to Histopathological Features

BACKGROUND: Promoter hypermethylation and global hypomethylation in the human genome are hallmarks of most cancers. OBJECTIVE: The aim of this study is to assess the methylation profile patterns of TWIST gene and to investigate the relationship of methylation with pathological features. METHODS: Romoter CpGisland methylation of TWIST which can be related in breast cancer was performed by methylation-sensitive high resolution melting (MS-HRM) analysis. Formalin-fixed, paraffin-embedded (FFPE) tissue samples of 80 patients with a diagnosis of primary breast cancer from Eskisehir Osmangazi University medical faculty of Oncology Clinic were included. RESULTS: In our study, the promoter hypermethylation frequency of TWIST gene was 25.0%. With these results, when the prognostic factors of the patients were analyzed, tumor stage and age were found to be meaningless with the hypermethylation of TWIST gene, but found to be significant with lymph node positivity, ER positivity, PR negativity, and HER2/NEU negativity. CONCLUSION: Our study is important as being the first study that analyzes association between histopathologic type and TWIST gene promotor methylation status in Turkish population.