scholarly journals Germline Allelic Expression of Genes at 17q22 Locus Associates with Risk of Breast Cancer

2021 ◽  
Author(s):  
Filipa Esteves ◽  
Joana M. Xavier ◽  
Anthony M. Ford ◽  
Cátia Rocha ◽  
Paul D.P. Pharoah ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Risk ◽  
Target Genes ◽  
Case Control ◽  
Significant Shift ◽  
Control Analysis ◽  
Preferential Expression ◽  
Regulatory Variants ◽  
Novel Approach ◽  
Increased Risk

Translation of GWAS findings into preventive approaches is challenged by identifying the causal risk variants and understanding their biological mechanisms. We present a novel approach using AE ratios to perform quantitative case-control analysis to identify risk associations, causal regulatory variants, and target genes. Using the breast cancer risk locus 17q22 to validate this approach, we found a significant shift in the AE patterns of STXBP4 (rs2628315) and COX11 (rs17817901) in the normal breast tissue of cases and healthy controls. Preferential expression of the G-rs2628315 and A-rs17817901 alleles, more often observed in cases, was associated with an increased risk for breast cancer. Analysis of blood samples from cases and controls found a similar association. Furthermore, we identified two putative cis-regulatory variants - rs17817901 and rs8066588 - that affect a miRNA and a transcription factor binding site, respectively. Our work reveals the power of integrating AE data in cancer risk studies and presents a novel approach to identifying risk - case-control association analysis using AE ratios.

scholarly journals Oral Contraceptive Use and Breast Cancer Risk Assessment: A Systematic Review and Meta-Analysis of Case-Control Studies, 2009–2020

Cancers ◽  
2021 ◽  
Vol 13 (22) ◽  
pp. 5654
Author(s):  
Agnieszka Barańska ◽  
Agata Błaszczuk ◽  
Wiesław Kanadys ◽  
Maria Malm ◽  
Katarzyna Drop ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Oral Contraceptive ◽  
Cancer Risk ◽  
Meta Analysis ◽  
Case Control ◽  
Cochrane Library ◽  
Control Group ◽  
Case Control Studies ◽  
Increased Risk ◽  
Breast Cancer Risk Assessment

To perform a meta-analysis of case-control studies that addressed the association between oral contraceptive pills (OC) use and breast cancer (BrCa), PubMED (MEDLINE), Embase, and the Cochrane Library were searched to identify case-control studies of OC and BrCa published between 2009 and 2020. We used the DerSimonian–Laird method to compute pooled odds ratios (ORs) and confidence intervals (CIs), and the Mantel–Haenszel test to assess the association between OC use and cancer. Forty-two studies were identified that met the inclusion criteria and we included a total of 110,580 women (30,778 into the BrCa group and 79,802 into the control group, of which 15,722 and 38,334 were using OC, respectively). The conducted meta-analysis showed that the use of OC was associated with a significantly increased risk of BrCa in general, OR = 1.15, 95% CI: 1.01 to 1.31, p = 0.0358. Regarding other risk factors for BrCa, we found that increased risk was associated significantly with early menarche, nulliparous, non-breastfeeding, older age at first parity, postmenopause, obesity, smoking, and family history of BrCa. Despite our conclusion that birth control pills increase the cancer risk being supported by extensive previous studies and meta-analyzes, further confirmation is required.

scholarly journals Premenopausal Plasma Osteoprotegerin and Breast Cancer Risk: A Case–Control Analysis Nested within the Nurses' Health Study II

2020 ◽  
Vol 29 (6) ◽  
pp. 1264-1270
Author(s):  
Joanne Kotsopoulos ◽  
Emma E. McGee ◽  
Susana Lozano-Esparza ◽  
Judy E. Garber ◽  
Jennifer Ligibel ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Case Control ◽  
Health Study ◽  
Control Analysis ◽  
Case Control Analysis

scholarly journals Association of PIN3 16-bp Duplication Polymorphism of TP53 gene with Breast Cancer Risk in Mali and A Meta-analysis.

2020 ◽  
Author(s):  
Brehima Diakite ◽  
Yaya Kassogue ◽  
Guimogo Dolo ◽  
Oumar Kassogue ◽  
Mamadou Lassine Keita ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Meta Analysis ◽  
Tp53 Gene ◽  
Case Control ◽  
Recessive Model ◽  
Case Control Studies ◽  
Random Effects Models ◽  
Increased Risk

Abstract Background. Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53 gene. The aim of our study was to evaluate the role of the PIN3 16-bp duplication polymorphism in the susceptibility to breast cancer in the Malian population and to perform a meta-analysis to better understand the correlation with data from other populations.Methods. We analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian women with breast cancer and 60 healthy appearing Malian women using PCR. In addition, we performed a meta-analysis of data from case-control studies published in articles retrieved from international databases (Pubmed, Harvard University Library, Genetics Medical Literature Database, Genesis Library and Web of Science). Overall, odds ratio (OR) with 95% CI from fixed and random effects models were determined. Inconsistency was used to assess heterogeneity between studies and publication bias was estimated using the funnel plot.Results. In the studied Malian patients, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2+A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73; P = 0.02) and additive (A2 vs. A1: OR =1.87, CI 95% = 1.05-3.33; P = 0.03) models, but not the recessive model (P = 0.38). In the meta-analysis, nineteen (19) articles were included with a total of 6,018 disease cases and 4,456 controls. Except for the dominant model (P = 0.15), an increased risk of breast cancer was detected with the recessive (OR=1.46, 95% CI = 1.15-1.85; P = 0.002) and additive (OR = 1.11, 95% CI = 1.02-1.19; P = 0.01) models.Conclusion. The Malian case-control study suggests that PIN3 16-bp polymorphism duplication of TP53 gene is an important risk factor for breast cancer in Malian women. These findings are supported by the meta-analysis of studies from different ethnicities.

scholarly journals A higher Dietary Inflammatory Index score is associated with a higher risk of breast cancer among Chinese women: a case–control study

2017 ◽  
Vol 117 (10) ◽  
pp. 1358-1367 ◽  
Author(s):  
Wu-Qing Huang ◽  
Xiong-Fei Mo ◽  
Yan-Bin Ye ◽  
Nitin Shivappa ◽  
Fang-Yu Lin ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Case Control Study ◽  
Chinese Women ◽  
Case Control ◽  
Dietary Inflammatory Index ◽  
Inflammatory Index ◽  
Increased Risk ◽  
Control Study

AbstractPrevious studies have investigated the association between dietary inflammatory potential and the development of cancer. For breast cancer the results have been equivocal. The present study aimed to investigate whether higher Dietary Inflammatory IndexTM (DII) scores were associated with increased risk of breast cancer among Chinese women. A total of 867 cases and 824 controls were recruited into the present case–control study from September 2011 to February 2016. DII scores were computed based on baseline dietary intake assessed by a validated 81-item FFQ. The OR and 95 % CI were assessed by multivariable logistic regression after adjusting for various potential confounders. DII scores in this study ranged from −5·87 (most anti-inflammatory score) to +5·71 (most proinflammatory score). A higher DII score was associated with a higher breast cancer risk (adjusted ORquartile 4 v. 1 2·28; 95 % CI 1·71, 3·03; adjusted ORcontinuous 1·40; 95 %CI 1·25, 1·39). In stratified analyses, positive associations also were observed except for underweight women or women with either oestrogen receptor+ or progesterone receptor+ status (but not both). Results from this study indicated that higher DII scores, corresponding to more proinflammatory diets, were positively associated with breast cancer risk among Chinese women.

scholarly journals Methylation of WT1, CA10 in peripheral blood leukocyte is associated with breast cancer risk: a case-control study

2020 ◽  
Author(s):  
Anqi Ge ◽  
Song Gao ◽  
Yupeng Liu ◽  
Hui Zhang ◽  
Xuan Wang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Case Control Study ◽  
Case Control ◽  
Elevated Risk ◽  
Luminal B ◽  
Increased Risk ◽  
Risk Of Cancer ◽  
Control Study

Abstract Background: Studies have shown that abnormal changes of specific-gene DNA methylation in leukocytes may be associated with an elevated risk of cancer. However, associations between the methylation of the zinc-related genes, WT1 and CA10, and breast cancer risk remain unknown. Methods: The methylation of WT1 and CA10 was analyzed by methylation-sensitive high-resolution-melting (MS-HRM) in a case-control study with female subjects (N=959). Logistic regression was used to analyze the associations, and propensity score (PS) method was used to adjust confounders. Results: The results showed that WT1 hypermethylation was associated with an increased risk of breast cancer, with an odds ratio (OR) of 3.07 [95% confidence interval (CI): 1.67-5.64, P<0.01]. Subgroup analyses showed that WT1 hypermethylation was specifically associated with an elevated risk of luminal A subtype (OR=2.62, 95% CI: 1.11-6.20, P=0.03) and luminal B subtype (OR=3.23, 95% CI: 1.34-7.80, P=0.01). CA10 hypermethylation was associated with an increased risk of luminal B subtype (OR=1.80, 95% CI: 1.09-2.98, P=0.02). Conclusion: The results of the present study suggest that the hypermethylation of WT1 methylation in leukocytes is significantly associated with an increased risk of breast cancer. The hypermethylation of WT1 is associated with an increased risk of luminal subtypes of breast cancer, and the hypermethylation of CA10 is associated with an increased risk of luminal B subtype of breast cancer.

scholarly journals Association of PIN3 16-bp Duplication Polymorphism of TP53 gene with Breast Cancer Risk in Mali and A Meta-analysis.

2019 ◽  
Author(s):  
Brehima Diakite ◽  
Yaya Kassogue ◽  
Guimogo Dolo ◽  
Oumar Kassogue ◽  
Mamadou Lassine Keita ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Meta Analysis ◽  
Tp53 Gene ◽  
Case Control ◽  
Recessive Model ◽  
Case Control Studies ◽  
Random Effects Models ◽  
Increased Risk

Abstract Background Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53 gene. The aim of our study was to evaluate the role of the PIN3 16-bp duplication polymorphism in the susceptibility to breast cancer in the Malian population and to perform a meta-analysis to better understand the correlation with data from other populations.Methods We analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian women with breast cancer and 60 healthy appearing Malian women using PCR. In addition, we performed a meta-analysis of data from case-control studies published in articles retrieved from international databases (Pubmed, Harvard University Library, Genetics Medical Literature Database, Genesis Library and Web of Science). Overall, odds ratio (OR) with 95% CI from fixed and random effects models were determined. Inconsistency was used to assess heterogeneity between studies and publication bias was estimated using the funnel plot.ResultsIn the Malian patients studied here, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2+A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73; P = 0.02) and additive (A2 vs. A1: OR =1.87, CI 95% = 1.05-3.33; P = 0.03) models, but not the recessive model ( P = 0.38). In the meta-analysis, nineteen (19) articles were included with a total of 6,018 disease cases and 4,456 controls. Except for the dominant model ( P = 0.15), an increased risk of breast cancer was detected with the recessive (OR=1.46, 95% CI = 1.15-1.85; P = 0.002) and additive (OR = 1.11, 95% CI = 1.02-1.19; P = 0.01) models.Conclusion The Malian case-control study suggests that PIN3 16-bp polymorphism duplication of TP53 gene is an important risk factor for breast cancer in Malian women. These data are supported by the meta-analysis of broader ethnic and population groups.

scholarly journals Association of PIN3 16-bp Duplication Polymorphism of TP53 gene with Breast Cancer Risk in Mali and A Meta-analysis.

2020 ◽  
Author(s):  
Brehima Diakite ◽  
Yaya Kassogue ◽  
Guimogo Dolo ◽  
Oumar Kassogue ◽  
Mamadou Lassine Keita ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Case Control Study ◽  
Meta Analysis ◽  
Significant Risk ◽  
Significant Risk Factor ◽  
Case Control ◽  
Increased Risk ◽  
Control Study

Abstract Background. Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53. The aim of our study was to evaluate the role of the PIN3 16-bp duplication polymorphism in the susceptibility to breast cancer in the Malian population and to perform a meta-analysis to better understand the correlation with data from other populations.Methods. We analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian women with breast cancer and 60 healthy Malian women using PCR. In addition, we performed a meta-analysis of case-control study data from international databases, including Pubmed, Harvard University Library, Genetics Medical Literature Database, Genesis Library and Web of Science. Overall, odds ratio (OR) with 95% CI from fixed and random effects models were determined. Inconsistency was used to assess heterogeneity between studies and publication bias was estimated using the funnel plot.Results. In the studied Malian patients, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2+A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73; P = 0.02) and additive (A2 vs. A1: OR =1.87, CI 95% = 1.05-3.33; P = 0.03) models, but not in the recessive model (P = 0.38). In the meta-analysis, nineteen (19) articles were included with a total of 6,018 disease cases and 4,456 controls. Except for the dominant model (P = 0.15), an increased risk of breast cancer was detected with the recessive (OR=1.46, 95% CI = 1.15-1.85; P = 0.002) and additive (OR = 1.11, 95% CI = 1.02-1.19; P = 0.01) models.Conclusion. The case-control study showed that PIN3 16-bp duplication polymorphism of TP53 is a significant risk factor for breast cancer in Malian women. These findings are supported by data from the meta-analysis carried out on different ethnic groups around the world.

scholarly journals Association of PIN3 16-bp Duplication Polymorphism of TP53 with Breast Cancer Risk in Mali and A Meta-analysis.

2020 ◽  
Author(s):  
Brehima Diakite ◽  
Yaya Kassogue ◽  
Guimogo Dolo ◽  
Oumar Kassogue ◽  
Mamadou Lassine Keita ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Case Control Study ◽  
Meta Analysis ◽  
Significant Risk ◽  
Significant Risk Factor ◽  
Case Control ◽  
Increased Risk ◽  
Control Study

Abstract Background. Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53. The aim of our study was to evaluate the role of the PIN3 16-bp duplication polymorphism in the susceptibility to breast cancer in the Malian population and to perform a meta-analysis to better understand the correlation with data from other populations.Methods. We analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian women with breast cancer and 60 healthy Malian women using PCR. In addition, we performed a meta-analysis of case-control study data from international databases, including Pubmed, Harvard University Library, Genetics Medical Literature Database, Genesis Library and Web of Science. Overall, odds ratio (OR) with 95% CI from fixed and random effects models were determined. Inconsistency was used to assess heterogeneity between studies and publication bias was estimated using the funnel plot.Results. In the studied Malian patients, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2+A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73; P = 0.02) and additive (A2 vs. A1: OR =1.87, CI 95% = 1.05-3.33; P = 0.03) models, but not in the recessive model (P = 0.38). In the meta-analysis, nineteen (19) articles were included with a total of 6,018 disease cases and 4,456 controls. Except for the dominant model (P = 0.15), an increased risk of breast cancer was detected with the recessive (OR=1.46, 95% CI = 1.15-1.85; P = 0.002) and additive (OR = 1.11, 95% CI = 1.02-1.19; P = 0.01) models.Conclusion. The case-control study showed that PIN3 16-bp duplication polymorphism of TP53 is a significant risk factor for breast cancer in Malian women. These findings are supported by data from the meta-analysis carried out on different ethnic groups around the world.

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