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OBJECTIVES: Various molecular changes in Fibroblast Growth Factor Receptor 4 gene that is known with its oncogenic transformation activity are known to result with different gene variants. To investigate the potential candidate variant of c.1162G>A that is known to have a role in cancer progression and retinal development in the tumor development and progression in patients diagnosed with retinoblastoma who had no RB1 gene mutation. MATERIAL&METHODS: c.1162G>A variant was bi-directionally sequenced using the Sanger sequencing in 49 retinoblastoma patients with no mutation in RB1 gene, in their first degree 13 healthy relatives, and in 146 individuals who were matched for sex and age in the control group. RESULTS: c.1162G>A variant was found positive in about 55% of patients, and mutation was detected in 54% of healthy relatives of the patients in our study. Mutation was detected in 48% individuals in the evaluation of the c.1162G>A mutation in healthy controls. Although c.1162G>A allele frequency was detected as 30% in general population in different databases, we demonsrated the frequency as 50% in Turkish population in our study. CONCLUSIONS: c.1162G>A allele was significantly higher in patients who were diagnosed with retinoblastoma before the month 24, and in advanced stage patients. In conclusion, these results suggested that c.1162G>A polymorphism might have a role in aggressive tumor progression, and in tumor development. [ABSTRACT FROM AUTHOR]

Ovarian cancer is a disease that is generally diagnosed at an advanced stage, and has poor survival. Monozygotic (MZ) twins are considered to be good research models for investigating the epigenetic changes associated with diseases. In the present study, the involvement of epigenetic mechanisms in ovarian cancer etiology were evaluated using the MZ twin model. Whole-genome methylation patterns were investigated in a BRCA1 gene mutation-carrying family comprising MZ twins, only one of whom had ovarian cancer, and other healthy siblings. Whole-genome methylation patterns were assessed in peripheral blood DNA using Infinium MethylationEPIC BeadChips on an Illumina iScan device. The hypermethylated and hypomethylated genes were detected between cases and controls in four different comparison groups in order to evaluate the differences in methylation levels according to cancer diagnosis and BRCA mutation status. The obtained results showed that the differential methylations in 12 different genes, namely PR/SET domain 6, cytochrome B5 reductase 4, ZNF714, OR52M1, SEMA4D, CHD1L, CAPZB, clustered mitochondria homolog, RB-binding protein 7, chromatin repair factor, ankyrin repeat domain 23, RIB43A domain with coiled-coils 1 and C6orf227, were associated with ovarian cancer. Biological functional analysis of the genes detected in the study using the PANTHER classification system revealed that they have roles in biological processes including 'biologic adhesion', 'regulation', 'cellular components organization', 'biogenesis', 'immune system functioning', 'metabolic functioning' and 'localization'. Overall, the present study suggested that epigenetic differences, such as methylation status, could be used as a non-invasive biological markers for the early diagnosis and follow-up of ovarian cancer. [ABSTRACT FROM AUTHOR]

OBJECTIVES: Ovarian cancer is one of the most lethal gynecological malignancy among women. Many miRNAs have been determined to act as oncogenes, tumor suppressors, and even modulators of cancer stem cells and metastasis. Based on the findings obtained from the microarray study previously, we conclude that the miR-16-5p, miR-17-5p, miR-638 might be important in the etiology of ovarian cancer and, should be validated in large patients cohorts with ovarian cancer and healthy control group. The aim of this study was to validate and determine whether three molecules, miR-16-5p, miR-17-5p, miR-638, are any biomarker in the early diagnosis and prognosis of patients with high-risk ovarian cancer. MATERIAL&METHODS: In the study, peripheral blood samples of 142 patients with ovarian cancer and 97 healthy controls which were ethnicity, age and gender matched were used. For gene expression analysis, Real-Time PCR methods were performed. RESULTS: miRNA gene expression levels increased more than 2 times in the patient groups compared to healthy controls and statistically significant (p<0.05). The p value obtained for each miRNA was determined as miR-16-5p, p<0.001; miR-17-5p, p<0.001, miR-638, p=0.005. In addition, we compared the clinical data of patients with miRNAs; There was a significant difference between the smoking status of the patients and the increased expression level of miR- 17-5p(p=0.007). In addition, miR-638 was expressed at significantly higher levels in distant metastasis-positive patients than in distant metastasis-negative patients(p=0.03). CONCLUSIONS: The findings suggest that these miRNAs were associated with metastasis. miR-16-5p, miR-17-5p, and miR-638 may be potential biomarkers to detect ovarian cancer and indicate its progression. [ABSTRACT FROM AUTHOR]

The expression of the FOXO3a gene, and its role in acute myeloid leukemia and chronic myeloid leukemia were investigated in the present study. We analyzed 101 patients diagnosed with AML, and CML, and 34 healthy individuals. The cDNAs obtained from the blood samples of patients, and healthy controls were analyzed by the Real-Time PCR using specific primers, and probes for the FOXO3a and ACTB genes. A 50-fold decrease in FOXO3a expression levels was detected in CML patients, and 8-fold decrease was detected in AML patients compared with the levels in the healthy controls. Significant difference was detected between the patients, and healthy controls (p= 0.000). However, there was no statistically significant difference between the CML and AML patient groups for FOXO3a expression level. The decrease in FOXO3a gene expression in all CML (51/51), and AML patients (50/50) was remarkable. The FOXO3a gene expression was downregulated in 91.8% (124/135) of all individuals included in the study. The present study might be an important report on emphasizing the expression profiles of FOXO3a gene in AML, and CML patients. Whether the FOXO3a gene is a valuable biomarker for early diagnosis and prognosis in CML and AML patients need to be investigated in larger study groups. [ABSTRACT FROM AUTHOR]