scholarly journals Single Nucleotide Polymorphism in hsa-mir-196a-2 and Breast Cancer Risk: A Case Control Study

2011 ◽  
Vol 14 (5) ◽  
pp. 417-421 ◽  
Author(s):  
Dominik J. Jedlinski ◽  
Plamena N. Gabrovska ◽  
Stephen R. Weinstein ◽  
Robert A. Smith ◽  
Lyn R. Griffiths
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Case Control ◽  
Cancer Tissue ◽  
Transcriptional Level ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

microRNAs are small, non-coding RNAs that influence gene expression on a post-transcriptional level. They participate in diverse biological pathways and may act as either tumor suppressor genes or oncogenes. As they may have an effect on thousands of target mRNAs, single-nucleotide polymorphisms in microRNA genes might have major functional consequences, because the microRNA's properties and/or maturation may change. miR-196a has been reported to be aberrantly expressed in breast cancer tissue. Additionally, the SNP rs11614913 in hsa-mir-196a-2 has been found to be associated with breast cancer risk in some studies although not in others. This study evaluated the association between rs11614913 and breast cancer risk in a Caucasian case-control cohort in Queensland, Australia. Results do not support an association of the tested hsa-mir-196a-2 polymorphism with breast cancer susceptibility in this cohort. As there is a discrepancy between our results and previous findings, it is important to assess the role of rs11614913 in breast cancer by further larger studies investigating different ethnic groups.

Decreased TGFBR1 signaling and breast cancer.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 1548-1548
Author(s):  
Clark Henegan ◽  
Lakisha Moore-Smith ◽  
Nengjun Yi ◽  
Habibul Ahsan ◽  
Alice S Whittemore ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Case Control ◽  
Migration And Invasion ◽  
Tgf Beta ◽  
Case Control Studies ◽  
Meta Analyses

1548 Background: We previously identified TGFBR1*6A (rs11466445), a hypomorphic TGF-beta type 1 receptor variant that is associated with cancer risk, has impaired TGF-beta signaling capability, and enhances the migration and invasion of breast cancer cells (Cancer Res 2008, 68:1319). Two recent large meta-analyses of case control studies have found a significant association between TGFBR1*6A and risk of breast cancer (Mol Biol Rep 2010 37:3227; PLoS One 2012,7(8). Rs7034462 is a single nucleotide polymorphism (SNP) in a noncoding region more than 9 kilobases upstream of TGFBR1 exon 1, which has been shown to be associated with decreased TGFBR1 expression similar to TGFBR1*6A (J Exp Clin Cancer Res 2010, 29:57). In this study we tested the hypothesis that rs7034462 may be associated with breast cancer risk. Methods: rs7034462 was genotyped in DNA obtained from patients with breast cancer and their unaffected sisters recruited by the Breast Cancer Family Registry (B-CFR). Results: The median age of cases and controls was 48.8 and 47.6 years, respectively. Using a simple case-control genetic association analysis for this family-matched population, rs7034462 was found to be associated with breast cancer risk. Conclusions: TGFBR1 rs7034462 is emerging as a low penetrance breast cancer susceptibility allele suggesting that two distinct TGFBR1 SNPs, each associated with decreased TGFBR1 expression, may modulate breast cancer risk. [Table: see text]

Association of single-nucleotide polymorphisms of USP7 gene with breast cancer suscepbility in Chinese women.

2014 ◽  
Vol 32 (26_suppl) ◽  
pp. 27-27
Author(s):  
Huangang Jiang ◽  
Fuxiang Zhou ◽  
You Wang ◽  
Yuehua Wei ◽  
Hui Xu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Second Stage

27 Background: The tumor suppressor p53 pathway plays a crucial role in preventing carcinogenesis. It was reported that activity of p53 was regulated by USP7 (Ubiquitin Specific Peptidase 7) and TSPYL5 (Testis-specific Y-encoded-like protein 5). This study was carried out to assess the association between single nucleotide polymorphisms (SNPs) in P53, USP7, TSPYL5 genes and the breast cancer susceptibility in Chinese Han women. Methods: DNA was extracted from the peripheral blood samples of breast cancer patients and age-matched controls. In the first stage, tag SNPs of P53, USP7, and TSPYL5 genes were selected with Hapmap database and Haploview program. The matrix-assisted laser desorption/ionization time-of-flight mass spectrometry assay was used for genotyping. Then, two positive SNPs were determined by polymerase chain reaction- restricted fragment length polymorphisms assay (PCR-RFLP) in the second stage. The ethics committee of Zhongnan Hospital of Wuhan University authorized this study. Results: In the first stage, 23 SNPs were selected and detected in 192 cases and 192 controls. The results demonstrated that the distribution of genotype of rs12924995, rs2304467 in USP7 gene was different in cases and controls (p = 0.026, 0.037, respectively). In the second stage, these two SNPs were determined. A total of 975 cases and 910 controls enrolled in the present study. Hardy-Weinberg equilibrium of rs2304467 and rs12924995 in the control group was tested (p = 0.979, 0.111). Multivariate analysis showed that breast cancer risk of women with C allele (CC or CG genotype) increased (p < 0.001, odds ratio = 1.87, 95% confidence interval, 1.44-2.44), compared with rs2304467 GG carriers. Besides, women with rs12924995A allele (AA or AC genotype) had higher risk of breast cancer than those with CC genotype (P=0.002, odds ratio=1.36, 95% confidence interval, 1.21-1.65). Breast cancer risk of women carried rs2304467C allele and rs12924995A allele also increased (p < 0.001, odds ratio = 2.05, 95% confidence interval, 1.54-2.73). Conclusions: SNPs rs2304467 and rs12924995 in USP7 gene are associated with breast cancer susceptibility in Chinese Han women.

scholarly journals Effects of FGFR1 Gene Polymorphisms on the Risk of Breast Cancer and FGFR1 Protein Expression

2018 ◽  
Vol 47 (6) ◽  
pp. 2569-2578 ◽  
Author(s):  
Junqiang Wu ◽  
Yuhang Wang ◽  
Jing Liu ◽  
Qianlin Chen ◽  
Da Pang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Protein Expression ◽  
Cox Regression ◽  
Cancer Susceptibility ◽  
Growth Factor Receptor ◽  
Breast Cancer Susceptibility ◽  
Cancer Prognosis ◽  
Nucleotide Polymorphisms

Background/Aims: Fibroblast growth factor receptor 1 (FGFR1) is widely considered to play an important role in mammary carcinogenesis. Some common variants in FGFR1 might be associated with its expression, and further affect breast cancer risk. The aim of this study was to investigate effects of single-nucleotide polymorphisms (SNPs) in FGFR1 on breast cancer susceptibility and FGFR1 protein expression. Methods: SNPs rs17182023, rs17175624 and rs10958704 in FGFR1 were genotyped in 747 breast cancer cases and 716 healthy controls by SNaPshot method. The associations between SNPs and breast cancer were examined by logistic regression. Immunohistochemistry(IHC) was used to detect FGFR1 protein expression, and the association of FGFR1 polymorphisms with its protein expression was analyzed by Pearson’s chi-square test. Additionally, Cox regression and Kaplan-Meier analysis was used to evaluate the association between FGFR1 protein expression and breast cancer prognosis. Results: The minor allele of rs17182023 in FGFR1 was significantly associated with reduced breast cancer risk, with an odds ratio of 0.800 (95%CI = 0.684-0.935). No significant associations were detected between other SNPs and breast cancer. Moreover, rs17182023 was correlated to FGFR1 protein expression (P = 0.006), and patients with high FGFR1 protein expression tended to have poor outcomes. Conclusions: SNP rs17182023 was correlated to reduced breast cancer risk, and was associated with FGFR1 protein expression. High FGFR1 protein expression was an independent risk factor of breast cancer, and resulted in poor prognosis.

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