ESR1 single nucleotide polymorphism rs1062577 (c.*3804T &gt; A) alters the susceptibility of breast cancer risk in Iranian population

Dehghan, Zahra; Sadeghi, Samira; Tabatabaeian, Hossein; Ghaedi, Kamran; Azadeh, Mansoureh; Fazilati, Mohammad; Bagheri, Fatemeh

doi:10.1016/j.gene.2017.02.016

Cited by 21 publications

(5 citation statements)

References 26 publications

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“…More importantly, MET is a necessary oncogene as well as a subordinate gene responsible for the malignancies' metastatic actions. C-Met has been identified as an independent prognostic factor for bad results for all of these cancer types (2,7,8,19,20). Both these results reinforce the theory that the HGF/c-Met pathway is a crucial cancer regulator and offers an interesting explanation for the rigorous study of c-Met targeting in patients with gastric cancer (2,21).…”

Section: Discussionmentioning

confidence: 53%

“…Genome-wide association studies (GWAS) have linked 3800 SNPs to 427 diseases and characteristics, which is 7% of SNPs found in protein-coding regions (2), but 93% in the non-coding areas (1,3,4). SNPs' role in cancer has been demonstrated in several studies, among which miRNArelated studies have recently gained greater interest (2,(5)(6)(7)(8)(9).…”

Section: Introductionmentioning

confidence: 99%

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The Association of rs5745687 Polymorphism Located at HGF Gene with Risk of Gastric and Breast Cancer in the Helicobacter Positive Patients of Isfahan Population

et al. 2022

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Background: Hepatocyte growth factor (HGF) protein regulates cell growth, motility, and morphogenesis in a variety of cells and tissues by binding to the HGF receptor. The rs5745687 SNPs in the introns of the HGF gene could affect the splicing and expression of HGF mRNA. Objectives: In this study, the genotype frequency of rs5745687 in breast cancer (BC) and gastric cancer (GC) (positive helicobacter) patients has been investigated and compared with the healthy controls in the Isfahan population. Methods: Firstly, initial bioinformatics studies were done. Then, according to the results, bioinformatics High-Resolution Melt (HRM) and Real-Time PCR were recruited to determine genotypes rs5745678 for 432 participants in the case-control analysis (84 GC with 126 healthy control samples, as well as 111 BC cases with 111 normal controls). The conditional logistic regression model was used to measure odds ratios (OR) and 95% confidence intervals (CI) to produce these cancers based on genotype frequency. Results: The homozygote genotype of the mutant (G) allele of rs5745678 has a significant association with the lower risk of gastric cancer (P-value < 0.0001) and this allele can increase the risk of GC in a co-dominant model (OR: 5.541, P-value < 0.0001). Also, the rs5745678 SNP had a significant association with the clinicopathological features (age, smoking, H. Pylori infection) in GC patients. Conclusions:The presence of a single G allele in rs5745678 heterozygote (AG/AA) and co-dominant (AG/AA+GG) models could significantly impact GC pathogenicity in different ways. There was no significant correlation between the rs5745678 polymorphism and BC (P-value: 0.671) in the studied sample size.

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Section: Discussionmentioning

confidence: 53%

Section: Introductionmentioning

confidence: 99%

The Association of rs5745687 Polymorphism Located at HGF Gene with Risk of Gastric and Breast Cancer in the Helicobacter Positive Patients of Isfahan Population

et al. 2022

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“…However, no study has been conducted to investigate the role of MUC4 SNPs in gastric cancer. Among different polymorphisms, SNPs located at miRNA target sites may have an effect on mRNA stability and/or expression [10][11][12][13][14]; and therefore, they could be more functional.…”

Section: Introductionmentioning

confidence: 99%

miR-581-Related Single Nucleotide Polymorphism, rs2641726, Located in MUC4 Gene, is Associated with Gastric Cancer Incidence

et al. 2018

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MUC4 is aberrantly expressed in several carcinomas including breast, colon, ovarian, lung, prostate, stomach and pancreatic cancers. MUC4 can regulate cell apoptosis negatively and facilitate stomach tumorigenesis. In this research, we aimed to evaluate the possible association between rs2641726 (C [ A) polymorphism of MUC4 and gastric cancer risk in the Iranian population. In this case-control study, we collected blood samples from 168 gastric cancer patients and 66 healthy subjects. Allelespecific primer polymerase chain reaction method was applied to genotype rs2641726 in the obtained DNA samples. This study demonstrated that rs2641726 C allele was significantly associated with the incidence of gastric cancer, odds ratio = 3.382, 95% confidence interval: 1.840-6.217 (P \ 0.001). Furthermore, the distribution of this risk allele was highly enriched in the samples with stage III. In silico studies revealed that the C allele of rs2641726, located within MUC4 3 0 UTR, is potential to attenuate the interaction between miR-581 and MUC4 mRNA. This disturbing effect, which might result in higher expression of MUC4 oncoprotein, was proposed for the mechanism of action of the rs2641726 risk allele. rs2641726 C allele is significantly enriched in gastric cancer specimens. The attenuating effect of this allele on miR-581 and MUC4 interaction might be a potential mechanism of action by which C allele imposes its oncogenic impact.

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“…We have been investigating potential associations between miRNA-related polymorphisms and breast cancer in the Iranian population [22,[27][28][29][30][31][32][33]. Herein, we focused on the frequencies and predictive value of another ErbB4 3 0 -UTR SNP, rs12471583 (c.*3622A[G) in Iranian breast cancer patients.…”

Section: Introductionmentioning

confidence: 99%

ErbB4 3′-UTR Variant (c.*3622A>G) is Associated with ER/PR Negativity and Advanced Breast Cancer

et al. 2018

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A genetic variant may alter a gene expression level and as a result be associated with pathological characteristics in breast cancer. In this research, the frequency and association of the ErbB4 3 0 -untranslated region (3 0 -UTR) variant, rs12471583 (c.*3622A[G) was studied in an Iranian breast cancer patients. In silico assessment was performed to predict the function of the rs12471583 variant located on the 3 0 -UTR of ErbB4. Furthermore, as a casecontrol study, this polymorphism was genotyped in 243 breast cancer patients and non-cancerous controls using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The Armitage's trend test and regular association tests were performed to analyze a possible association between the rs12471583 and risk of breast cancer and its relevant pathological traits. The bioinformatics analysis predicted that the rs12471583 SNP is located on the four miRNA binding sites, including miR-511-5p, miR-4659a-5p, miR-4659b-5p, and miR-6830-3p. According to logistic regression tests, the G allele is negatively associated with ER-(OR = 0.20, 95% C.I. = 0.04-0.93, p = 0.026), PR-(OR = 0.31, 95% C.I. = 0.10-0.98, p = 0.039), ER-/PR-(OR = 0.20, 95% C.I. = 0.04-0.93, p = 0.026), and advanced breast cancer (OR = 0.40, 95% C.I. = 0.18-0.85, p = 0.016). It has been found that ErbB4 expression may be linked to unfavorable outcomes in breast cancer. Likewise, our results suggest that the G allele may strengthen miRNA-ErbB4 binding efficiency and as a result reduce expression of ErbB4. This is a possible explanation for the observed association.

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ESR1 single nucleotide polymorphism rs1062577 (c.*3804T > A) alters the susceptibility of breast cancer risk in Iranian population

Cited by 21 publications

References 26 publications

The Association of rs5745687 Polymorphism Located at HGF Gene with Risk of Gastric and Breast Cancer in the Helicobacter Positive Patients of Isfahan Population

The Association of rs5745687 Polymorphism Located at HGF Gene with Risk of Gastric and Breast Cancer in the Helicobacter Positive Patients of Isfahan Population

miR-581-Related Single Nucleotide Polymorphism, rs2641726, Located in MUC4 Gene, is Associated with Gastric Cancer Incidence

ErbB4 3′-UTR Variant (c.*3622A>G) is Associated with ER/PR Negativity and Advanced Breast Cancer

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