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Objectives Albeit single nucleotide polymorphisms related to ESR1 gene have been studied, only a number of them have been reported to be associated with breast cancer risk. rs1062577 is one of the most recent microRNA-related ESR1 SNPs; however, no study has been conducted to investigate the significance this polymorphism in Iranian population. In this study, we aimed to investigate the frequency and also the association between rs1062577 and breast cancer. Materials and methods rs1062577 position was genotyped by Tetra-primer ARMS-PCR in totally 182 blood specimens obtained from breast cancer patients (n = 86), and healthy blood donors (n = 96). The distribution of different genotypes was statistically analyzed in terms of the potential association between rs1062577 different alleles, breast cancer risk and clinicopathological criteria of breast cancer patients. Results The statistical analyses confidently indicated that rs1062577 A allele is associated with the increased breast cancer risk in both univariate and multivariate regression models (Odds Ratio = 8.403 and 32.602 respectively). rs1062577 T allele was statistically associated with stage I of breast cancer patients (p-value = 0.025). In silico studies implied that rs1062577 A allele can alter the binding capacity of ESR1 mRNA and miRNAs via either breakage or formation of hydrogen bonds. Conclusion rs1062577 A allele is significantly and dramatically associated with the elevated risk and greater stages of breast cancer.

Gastric Cancer, is widespread despite medical science progress, and is characterized by a low rate of survival and poor recovery of patients throughout the world. Hence, single nucleotide polymorphisms associated with the binding status of miRNA in the target gene that affects gene expression level in this cancer. The purpose of this study was to investigate the association of rs12977 polymorphism alleles in RAC1 and the prevalence of gastric cancer as well as its progress concerning other clinical and pathological features of Iranian patients. A computational study was initially performed to explore the signaling pathways that correlated with the activity of hsa-miR-3605-3p by way of linking rs12977 was located at its seeding region responsible for the binding with hsa-miR-3605-3p. Real-time PCR-HRM analysis on genomic DNA of stomach cancer (no: 140) and control (no: 54) samples, genotyping approach was carried out to determine the association of rs12977 with the incidence/progress of gastric cancer. Results indicated a significant correlation between polymorphism and primary tumor, the degree of progression of cancer and metastasis (p

Breast cancer is one of the main causes of mortality throughout the world, especially in women. Lysine Demethylase 2A (KDM2A) gene is highly expressed in myoepithelial cells of mammary tissue that eventually contributes to breast tumorigenesis. The purpose of this study was to investigate the association between rs12287003 polymorphic factor of the KDM2A gene and breast cancer incidence. To develop this aim, we used Allele-specific PCR (ASP-PCR) to genotype breast cancer and healthy control samples. The results indicate that rs12287003 allele C was associated with a higher risk of breast cancer, while allele G reduced it. Mechanistically, allele C was shown to broadly attenuate the binding of numerous miRNAs to KDM2A transcripts, potentially inducing the KDM2A upregulation-mediated breast tumorigenesis. The findings of this study may have clinical implications upon validation in other clinical cohorts.

Breast Cancer (BC) is known as common neoplasia mostly in women. Long non-coding RNAs (LncRNAs) are considered as vital effective pathological regulators in cancers. The present study has been done to find the relation between BC and CCAT1 (colon cancer-associated transcript-1 RNA) which is situated in Chromosome 8, as known BC biomarkers. This LncRNA was evaluated in Isfahan, Iran Population. Since it has presented a significant decrease of expression in BC tissue, it may be considered as a great deal of potential to be a biomarker for this population. Quantitative real-time PCR (polymerase chain reaction) was utilized to analyze the expression levels of CCAT1on 74 pairs of tumor-normal breast tissues of BC patients. For statistical analysis, the Genex, R, and Graph prism8 software were used. An Independent student t-test was done to show a significant variation of groups. Based on statistical analysis, the significant tissue down-regulation of CCAT1 in BC patients in comparison to control samples (p = 0.001 respectively) has been identified. R studio examination with t-test indicates that the expression profiles of CCAT1 do not have a significant correlation with stage, lymph-node, tumor size, menopausal ER, PR receptor, and Her2. our Results provide that the downregulation of LncRNA CCAT1 could be considered as a potential diagnostic biomarker for BC.

Background Abnormal gene expression levels of enzymes involved in fatty acid synthesis and oxidation pathways in breast cancer have been shown to associate with progression of breast cancer. However, little is known about the significance of alternations in fatty acid activation, as a key step in their metabolism. We aimed to recognize suitable biomarkers indicating the altered activation of fatty acids and examine their differential expression in breast cancer and adjacent normal breast tissue samples. Material and methods Transcript levels of ACS enzymes were analyzed in TCGA data (RNAseq), breast cancer and normal breast samples by differential gene expression (DGE). Gene set enrichment analysis (GSEA) was performed to highlight the most enriched genes involved in the activation of fatty acids. Bioinformatic analysis was performed for the selection of LncRNAs. Gene expression analyses were performed using quantitative Real-time PCR (qRT-PCR) in breast cancer tissue samples and adjacent normal breast tissue samples. Correlation and survival analyses were performed using R program. ROC curves were created for TCGA and qPCR data to evaluate the prognostic potential of the biomarkers. Results GSEA analysis revealed that ACSM5 is highly enriched in normal breast tissue samples compared to breast cancer tissue samples. LINC00265 with highest co-efficient score with ACSM5 was selected for further analyses. The expression level of ACSM5 and LINC00265 positively correlated with each other and were significantly low in breast cancer tissues compared to normal breast tissues. Correlation analysis suggested a positive correlation between ACSM5 and LINC00265 genes. Survival analysis predicted prognostic potential for ACSM5. ROC curve analyses revealed that ACSM5 and LINC00265 can distinguish breast tumor samples from adjacent breast tissues. Conclusion Our study suggests ACSM5 gene as a potential biomarker with prognostic value in detection of altered activation of medium-chain fatty acids in breast cancer. In addition, the positive correlation between ACSM5 and LINC00265 suggests the presence of possible regulatory mechanism between them.

Background Breast cancer is highly prevalent globally and is one of the main causes of cancer-related deaths worldwide. Despite the advances, more insights are needed to decipher the regulatory mechanisms leading to breast cancer development and progression. Here, we examined the expression of PGR and TUG1 genes in breast cancer. Material and methods qPCR was used to quantitatively measure the expression of PGR and TUG1 transcripts in normal and breast cancer fresh clinical samples. Results The higher expression of both PGR and TUG1 was observed in the breast tumors as compared to the normal adjacent paired samples. The ROC curve analysis revealed that PGR and TUG1 expression patterns can discriminate breast tumor samples against normal tissues. Besides, there was a significant correlation between PGR and TUG1 expression in the studied samples. Conclusion PGR and TUG1 are significantly up-regulated in breast cancer, which both can distinct tumor from normal tissues. With respect to the positive correlation between PGR and TUG1, this gene signature might be used as a diagnostic biomarker for breast cancer detection.

Background Multiple sclerosis (MS) is one of the most prevalent inflammatory and autoimmune diseases, associated with the demyelination of nerve cords. The previous studies have proposed that Tryptophan hydroxylase (TPH) modulation may be associated with neurologic disorders including MS. Thus in the present study, we aimed to investigate whether the presence of two SNPs (rs17110566) and (rs17110747) in the TPH gene could be associated with the risk of MS incidence in the Iranian population or not. Methods In the present case-control study, 210 patients with MS and 153 matched healthy controls were enrolled. Genomic DNA from whole blood was isolated and genotyping was performed using the HRM technique. The data were analyzed by SPSS and p value Results Our results showed a significant difference in allelic frequency of SNP rs17110747 among MS patients and controls (p-value = 0.018). The frequency of AA genotype was evident with an increased risk of MS (p-value = 0.005). Additionally, the AA genotype of rs17110747 increased the risk of onset and expanded disability status scale (EDSS) of MS in females compared to males. Furthermore, there was no significant difference between MS patients and controls in allelic and genotype frequency of SNP rs17110566. Conclusion Taken together, a homozygous type of allele A at rs17110747 in TPH is related to the increased risk of MS development, especially in Iranian women.

Breast cancer has been increasing in developing countries; this cancer is becoming a fundamental health problem for these countries. Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) is a classical glycolytic enzyme correlated with the hormonal receptor concentrations, cell proliferation, tumor grade and stage, drug resistance, and outcome of breast cancer cells. Furthermore, genetic variations in miRNA binding sites could be played an essential role in breast cancer risk and survival. In this study, the SNP rs1803622 at the 3′-UTR of GAPDH was chosen as a candidate SNP for investigation based on bioinformatics studies. This polymorphism was genotyped in an Iranian population with 123 breast cancer patients and 117 matched healthy controls using the Allele-Specific Primer (ASP)-PCR method. The functional impact of this genetic variation on the post-transcriptional regulation of GAPDH gene were bioinformatically studied. The genotyping data, for the first time, successfully identified frequencies of GG, GT, and TT to be 7%, 61%, and 32% in breast cancer patients, respectively. In particular, the assessed frequencies of allele G was 38% while risk allele T was 62% in these population. Results revealed that compared with the GG genotype of rs1803622, T allele was related to a significantly increased risk of breast cancer in a dominant genetic model Significant difference in allele and genotype distributions in the SNP rs1803622 was found between the high and low expression levels of estrogen, progesterone, and HER2 receptors. Furthermore, allele and genotype frequencies in the SNP rs1803622 were also related to the stage and grade of breast cancer. Surprisingly, Genotype and allele frequencies in this SNP were also significantly different in metastatic and non-metastatic breast cancer samples. Finally, the bioinformatics data suggested that the SNP rs1803622 might be involved in transcriptional regulation of the GAPDH gene by hsa-miR-548g.

Background Breast cancer is the most common cancer among women worldwide. HER2-positive breast cancer accounts for nearly 20% of all cases. Upon targeted therapy resistance, these patients show fairly poor-prognosis. miRNAs have shown to be differentially expressed in HER2-positive cases that can decipher drug resistance. miR-195 down-regulation has been reported in breast cancer; however, very little is known about its expression particularly in HER2-positive breast cancers. Material and methods qPCR was used to quantitatively measure the expression of miR-195 in normal, HER2-positive and HER2-negative fresh clinical samples. A computational approach was used to find unvalidated but potential targetome of miR-195. Results miR-195 is down-regulated in breast cancer samples as compared to the normal controls. The level of down-regulation was significantly greater in HER2-positive tumors as compared to both normal and HER2-negative samples. Importantly, miR-195 down-regulation was demonstrated to be a potential diagnostic biomarker for distinguishing HER2-positive against both normal and HER2-negative samples. Besides, the in silico approach revealed that unvalidated miR-195 targetome play roles in oncogenic pathways related to breast tumorigenesis and progression. Conclusion miR-195 is down-regulated in breast cancer, especially and significantly in HER2-positive cases. The expression of miR-195 could effectively be used as a distinctive diagnostic marker to discriminate HER2-positive from both normal and HER2-negative samples.

Background and purpose One of the most prevalent cancers in the world and Iran is gastric cancer with a high degree of lethality. There are many environmental factors and genes responsible for gastric cancer incidence. Among genetics factors, NDRG1 has been reported to be associated with the gastric cancer progression, while its single nucleotide polymorphisms (SNPs) have not been widely studied. Among the SNPs, rs1049694 might be of interest as it is located in the 3′UTR of NDRG1 transcripts. However, the relevance of rs1049694 with the incidence of gastric cancer has not been studied yet. Materials and methods In this study, 144 patients with gastric cancer and 66 healthy individuals were selected. After taking blood samples and extraction of genomic DNA, genotyping was performed on 1049694 using allele specific primer (ASP)-PCR method. The data were analyzed with the SNPStats and SPSS. Results The results showed that 3 different genotypes were found in gastric cancer rs1049694 NDRG1 gene polymorphism. The rs1049694 allele G was significantly associated with the higher risk of gastric cancer and metastasis. Conclusion The presence of allele G at the rs1049694 position located in NDRG1 gene is significantly associated with the higher risk of gastric cancer. This allele was significantly observed higher in the metastatic patients. This SNP might be studied further to be considered as a biomarker for diagnosis/prognosis of gastric cancer.