Evaluation of Association of LOC105371267 Polymorphisms and Breast Cancer Susceptibility

2020 ◽  
Author(s):  
Xiaoli Liu ◽  
Dandan Li ◽  
Chunjuan He ◽  
Linna Peng ◽  
Shishi Xing ◽  
...  

Abstract Background: LOC105371267 (also known as PR-lncRNA1) was reported to be a p53-regulated lncRNA, which played essential roles in the pathogenesis of breast cancer (BC). We aimed to investigate the potential associations between LOC105371267 polymorphisms and BC risk. Method: Totally, 555 healthy individuals and 561 BC patients were recruited. Five candidate SNPs of LOC105371267 were genotyped with Agena MassARRAY system. Odds ratio (OR) and 95% confidence intervals (CIs) were applied to evaluate the relationship of LOC105371267 with BC susceptibility. Additionally, stratification analyses based on clinical features and haplotype analysis were also conducted. Results: A decreased BC risk was observed rs3931698 GG genotype (OR = 0.30, P = 0.018) and recessive genetic model (OR = 0.30, P = 0.021). Stratified analysis with age also revealed that this SNP was associated with a lower risk at age < 52 years. Meanwhile, multiple clinical characteristics, including ER and PR status and stage were all correlated with SNPs rs6499221, rs3931698, rs3852740 and rs8044565.Conclusion: Four LOC105371267 SNPs (rs6499221, rs3931698, rs8044565 and rs3852740) were found to be correlated with development of BC. Additionally, ER, PR, and stage were also linked to LOC105371267 polymorphisms, providing novel diagnostic and therapeutic targets for of BC management.

MicroRNA ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Abdolkarim Moazeni-Roodi ◽  
Sajjad Aftabi ◽  
Sahel Sarabandi ◽  
Shima Karami ◽  
Mohammad Hashemi ◽  
...  

Background: Several studies have reported a possible association of the miR-146a rs2910164 polymorphism with Breast Cancer (BC) development. However, the correlation between this polymorphism and susceptibility to BC is under debate. The current meta-analysis was designed and performed to more conclusively evaluate the miR-146a rs2910164 polymorphism and its potential link to BC. Methods: Our team has selected eligible studies (published up to October 2, 2020) from several electronic databases, including Web of Science, PubMed, Scopus and Google Scholar. A total number of 9,545 BC cases and 10,030 controls extracted from 26 eligible articles were included in this study. We utilized pooled Odds Ratios (ORs) as well as 95% confidence intervals (95% CIs) under five genetic models for quantitative estimation of any possible association between miR-146a rs2910164 polymorphism and BC. Results: Based on this meta-analysis, our findings suggest that there is no significant association between miR-146a rs2910164 polymorphism and BC risk. However, stratified analysis revealed that the rs2910164 polymorphism significantly increased the risk of BC in hospital-based studies using the homozygous genetic model (OR=1.37, 95%CI=1.01-1.86, p=0.043, CC vs. GG). Neither Asian nor Caucasian populations showed any significant association between rs2910164 polymorphism and BC susceptibility. Conclusion: In summary, our findings suggest that BC development is not associated with miR-146a rs2910164 polymorphism. However, larger ingenious future investigations might be needed for a more precise estimation of any association between miR-146a rs2910164 polymorphism and BC.


2020 ◽  
Author(s):  
Miao Li ◽  
Chenli Yue ◽  
Xiaoxiao Zuo ◽  
Guoquan Jin ◽  
Guanying Wang ◽  
...  

Abstract Introduction IL-7R is involved in the occurrence and development of breast cancer by binding to its ligand IL-7. This study aimed to explore the potential relationships of IL-7R polymorphisms with breast cancer susceptibility in Chinese Han women.Methods Five polymorphisms (rs969129, rs10213865, rs10053847, rs118137916, and rs6451231) of IL-7R genewere genotyped in 553 patients and 550 healthy healthy individuals from the in Chinese Han women using the Agena MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated used to evaluate the relationship.Results IL-7R rs10213865, rs969129 and rs6451231 was correlated with an increased the risk of breast cancer in multiple genetic models. Age stratified analysis revealed that rs6451231 was correlated with an increased breast cancer risk at age > 52 years. Additionally, rs10213865 was correlated with tumor site and ER expression, rs969129 was related to tumor size and Ki67 expresses status, and rs6451231was related to tumor size. Haplotype CGAG (rs969129, rs10213865, rs10053847 and rs118137916) were observed to a decrease breast cancer risk.Conclusions IL-7R polymorphism were significantly correlated with an increased breast cancer susceptibility in Chinese Han women.


2021 ◽  
Vol 2021 ◽  
pp. 1-10
Author(s):  
Linna Peng ◽  
Congmei Huang ◽  
Shishi Xing ◽  
Dandan Li ◽  
Chunjuan He ◽  
...  

Background. LOC105371267, also known as PR-lncRNA1, was reported to be a p53-regulated long noncoding RNA (lncRNA), which played an essential role in the pathogenesis of breast cancer (BC). We aimed to observe the potential association between LOC105371267 polymorphisms and BC risk in Northern Chinese Han females. Methods. Totally, 555 healthy individuals and 561 patients with BC were recruited. Five candidate SNPs (rs6499221, rs3931698, rs8044565, rs3852740, and rs111577197) of LOC105371267 were genotyped with the Agena MassARRAY system. Odds ratio (OR) and 95% confidence intervals (CIs) were applied to evaluate the relationship of LOC105371267 genetic polymorphisms with BC susceptibility. Additionally, stratification analysis based on clinical features and haplotype analysis were also conducted. Finally, multifactor dimensionality reduction (MDR) analysis was performed to assess the SNP-SNP interaction among LOC105371267 variants, and false-positive report probability (FPRP) analysis was used to validate the result of this study. Results. In this study, rs3931698 was a protective factor of BC in total (GG homozygote: OR = 0.30, 95% CI: 0.11–0.82, p = 0.018 ; recessive model: OR = 0.30, 95% CI: 0.11–0.84, p = 0.021 ). In stratification analysis based on the average age of 52 years and clinical characteristics (PR status, III-IV TNM stage), rs3931698 was also demonstrated to be associated with BC susceptibility. In addition, rs6499221 and rs3852740 were also associated with BC susceptibility among patients at age <52 years and patients with BC in a positive status. Thus, the haplotype analysis had a negative result for the incidence of BC ( p > 0.05 ), and haplotype consisting of rs8044565 and rs111577197 was nonsignificantly associated with the BC risk. Finally, MDR and FPRP analyses also validated the result of this study. Conclusion. Polymorphisms rs3931698, rs6499221, and rs3852740 of LOC105371267 were found to be associated with the risk of BC in total, and stratification analysis in the Northern Chinese Han females suggested that LOC105371267 variants might be helpful to predict BC progression.


2020 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Saeid Ghavami ◽  
Mohsen Taheri ◽  
Mohammad Hashemi

Objectives: Several studies have reported a correlation between the POLR2E rs3787016 polymorphism and cancer development, but findings are inconsistent. Therefore, we designed the current study to understand how rs3787016 polymorphism impacts cancer susceptibility. Methods: We searched the Scopus, Web of Science, and PubMed databases for studies related to the topic of interest published up to March 2019. A total of 11 relevant studies, encompassing 8,761 cancer cases and 10,534 controls, were retrieved and subject to quantitative analysis. The strength of the relationship was evaluated using the pooled odds ratios (ORs) with 95% confidence intervals (CIs). Results: Overall, the findings proposed a positive association between rs189037 polymorphism and susceptibility to cancer in homozygous (OR = 1.32, 95% CI = 1.11 - 1.57, P = 0.002, TT vs. CC), recessive (OR = 1.21, 95% CI = 1.06-1.39, P = 0.005, TT vs. CT + CC), and allele (OR = 1.12, 95% CI = 1.02-1.22, P = 0.021, T vs. C) genetic models. Stratified analysis showed that rs3787016 increased the risk of prostate and breast cancer. In addition, we found a significant association between the variant and increased cancer risk in Asian and Caucasian populations. Conclusions: In summary, the findings of the current meta-analysis suggest that the POLR2E rs3787016 polymorphism is an indicator of cancer susceptibility.


1999 ◽  
Vol 15 (1-3) ◽  
pp. 53-65 ◽  
Author(s):  
Jenny Chang-Claude ◽  
Heiko Becher ◽  
Maria Caligo ◽  
Diana Eccles ◽  
Gareth Evans ◽  
...  

For genetic counselling of a woman on familial breast cancer, an accurate evaluation of the probability that she carries a germ-line mutation is needed to assist in making decisions about genetic-testing.We used data from eight collaborating centres comprising 618 families (346 breast cancer only, 239 breast or ovarian cancer) recruited as research families or counselled for familial breast cancer, representing a broad range of family structures. Screening was performed in affected women from 618 families for germ-line mutations in BRCA1 and in 176 families for BRCA2 mutations, using different methods including SSCP, CSGE, DGGE, FAMA and PTT analysis followed by direct sequencing. Germ-line BRCA1 mutations were detected in 132 families and BRCA2 mutations in 16 families. The probability of being a carrier of a dominant breast cancer gene was calculated for the screened individual under the established genetic model for breast cancer susceptibility, first, with parameters for age-specific penetrances for breast cancer only [7] and, second, with age-specific penetrances for ovarian cancer in addition [20]. Our results indicate that the estimated probability of carrying a dominant breast cancer gene gives a direct measure of the likelihood of detecting mutations in BRCA1 and BRCA2. For breast/ovarian cancer families, the genetic model according to Narod et al. [20] is preferable for calculating the proband's genetic risk, and gives detection rates that indicate a 50% sensitivity of the gene test. Due to the incomplete BRCA2 screening of the families, we cannot yet draw any conclusions with respect to the breast cancer only families.


2019 ◽  
Vol 20 (22) ◽  
pp. 5704
Author(s):  
Monika Lesicka ◽  
Ewa Jabłońska ◽  
Edyta Wieczorek ◽  
Beata Pepłońska ◽  
Jolanta Gromadzińska ◽  
...  

Breast cancer (BC) is a major problem for civilization, manifested by continuously increasing morbidity and mortality among women worldwide. Core circadian genes may play an important role in cancer development and progression. To evaluate the effects of single nucleotide polymorphism (SNP) in circadian genes in BC risk, 16 functional SNPs were genotyped in 321 BC patients and 364 healthy women using the TaqMan fluorescence-labelled probes or High-Resolution Melt Curve technique in the Real-Time PCR system. The selected SNPs were analyzed for the risk of BC, progression, and the influence on gene expression in BC tissue pairs to demonstrate the functionality of genetic variants. The study showed a relationship between an increased BC risk under the dominant genetic model of CRY2 rs10838524, PER2 rs934945, and recessive genetic model of PER1 rs2735611. A protective effect of BMAL1 rs2279287 was observed among carriers with at least one variant allele. Moreover, we found an increased risk of estrogen-/progesterone-positive tumors under the dominant genetic model of PER2 rs934945 and estrogen negative tumors under the variant genotype of CRY2 rs10838524, PER1 rs2735611. We demonstrated significantly altered gene expression of BMAL1, CRY2, PER1, PER2, PER3 according to particular genotypes in the BC tissue pairs. Our findings support the hypothesized role of circadian genes in breast carcinogenesis and indicate probable biomarkers for breast cancer susceptibility.


1993 ◽  
Vol 3 (6) ◽  
pp. 322-327 ◽  
Author(s):  
Elaine T. Buchert ◽  
Raymond L. Woosley ◽  
Sandra M. Swain ◽  
Stephen J. Oliver ◽  
Steven S. Coughlin ◽  
...  

2021 ◽  
Vol 36 (2) ◽  
pp. 172460082110338
Author(s):  
Yaxuan Wang ◽  
Zhan Yang ◽  
Xueliang Chang ◽  
Jingdong Li ◽  
Zhenwei Han

Purpose The study aims to provide a comprehensive account of the association of five MDM4 gene polymorphisms (rs1380576, rs1563828, rs10900598, rs11801299, and rs4245739) with susceptibility to cancer. Methods A literature search for eligible candidate gene studies published before 27 February 2021 was conducted in PubMed, Medline and Web of Science. The following combinations of main keywords were used: (MDM4 OR MDMX OR HDMX OR mouse double minute 4 homolog) AND (polymorphism OR mutation OR variation OR SNP OR genotype) AND (cancer OR tumor OR neoplasm OR malignancy OR carcinoma OR adenocarcinoma). Potential sources of heterogeneity were sought out via meta-regression, subgroup and sensitivity analysis. Results Overall, a total of 15 articles with 21,365 cases and 29,280 controls for five polymorphisms of the MDM4 gene were enrolled. In the stratified analysis of rs1380576, we found that Asians might have less susceptibility to cancer. We found that rs4245739 was correlated with a decreased risk of cancer for Asians and breast cancer susceptibility. However, for other polymorphisms, the results showed no significant association with cancer risk. Conclusion MDM4 rs1380576 polymorphism is negatively associated with the risk of cancer in the Asian population. MDM4 rs4245739 polymorphism is inversely associated with cancer risk for Asians and breast cancer susceptibility.


2014 ◽  
Vol 74 (S 01) ◽  
Author(s):  
A Hein ◽  
L Häberle ◽  
AB Ekici ◽  
MP Lux ◽  
B Rack ◽  
...  

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