scholarly journals OGG1 Mutations and Risk of Female Breast Cancer: Meta-Analysis and Experimental Data

2015 ◽  
Vol 2015 ◽  
pp. 1-16 ◽  
Author(s):  
Kashif Ali ◽  
Ishrat Mahjabeen ◽  
Maimoona Sabir ◽  
Humera Mehmood ◽  
Mahmood Akhtar Kayani
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Splice Site ◽  
Nonsense Mutation ◽  
Mutational Analysis ◽  
Germ Line ◽  
Cancer Susceptibility ◽  
Meta Analysis ◽  
Increased Risk

In first part of this study association between OGG1 polymorphisms and breast cancer susceptibility was explored by meta-analysis. Second part of the study involved 925 subjects, used for mutational analysis of OGG1 gene using PCR-SSCP and sequencing. Fifteen mutations were observed, which included five intronic mutations, four splice site mutations, two 3′UTR mutations, three missense mutations, and a nonsense mutation. Significantly (p<0.001) increased (~29 fold) breast cancer risk was associated with a splice site variant g.9800972T>G and 3′UTR variant g.9798848G>A. Among intronic mutations, highest (~15 fold) increase in breast cancer risk was associated with g.9793680G>A (p<0.009). Similarly ~14-fold increased risk was associated with Val159Gly (p<0.01), ~17-fold with Gly221Arg (p<0.005), and ~18-fold with Ser326Cys (p<0.004) in breast cancer patients compared with controls, whereas analysis of nonsense mutation showed that ~13-fold (p<0.01) increased breast cancer risk was associated with Trp375STOP in patients compared to controls. In conclusion, a significant association was observed between OGG1 germ line mutations and breast cancer risk. These findings provide evidence that OGG1 may prove to be a good candidate of better diagnosis, treatment, and prevention of breast cancer.

scholarly journals ERCC1 rs11615 polymorphism increases susceptibility to breast cancer: a meta-analysis of 4547 individuals

2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Bingjie Li ◽  
Xiaoqing Shi ◽  
Yingying Yuan ◽  
Mengle Peng ◽  
Huifang Jin ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cancer Susceptibility ◽  
Excision Repair ◽  
Meta Analysis ◽  
Asian Population ◽  
Dominant Model ◽  
Case Control Studies ◽  
Increased Risk

Excision repair cross-complementation group 1 (ERCC1), a DNA repair protein, is vital for maintaining genomic fidelity and integrity. Despite the fact that a mounting body of case–control studies has concentrated on investigating the association of the ERCC1 rs11615 polymorphism and breast cancer risk, there is still no consensus on it. We conducted the current meta-analysis of all eligible articles to reach a much more explicit conclusion on this ambiguous association. A total of seven studies involving 2354 breast cancer cases and 2193 controls were elaborately selected for this analysis from the Embase, EBSCO, PubMed, WanFang, and China National Knowledge Infrastructure (CNKI) databases. Pooled odds ratios (ORs) and their 95% confidence intervals (CIs) were estimated in our meta-analysis. We found that the ERCC1 rs11615 polymorphism was significantly associated with breast cancer risk under all genetic models. When excluded, the studies that deviated from Hardy–Weinberg equilibrium (HWE), the pooled results of what remained significantly increase the risk of breast cancer under the allele model (OR = 1.14, 95% CI = 1.02–1.27, P=0.02), heterozygote model (OR = 1.24, 95% CI = 1.06–1.44, P=0.007), and dominant model (OR = 1.21, 95% CI = 1.05–1.41, P=0.01). This increased breast cancer risk was found in Asian population as well as under the heterozygote model (OR = 1.24, 95% CI = 1.05–1.48, P=0.013) and dominant model (OR = 1.20, 95% CI = 1.02–1.42, P=0.03). Our results suggest that the ERCC1 rs11615 polymorphism is associated with breast cancer susceptibility, and in particular, this increased risk of breast cancer existence in Asian population.

scholarly journals Transiently increased risk of breast cancer after childbirth: implications for fertility treatments and surrogacy

2020 ◽  
Vol 35 (6) ◽  
pp. 1253-1255
Author(s):  
Zeev Blumenfeld ◽  
Norbert Gleicher ◽  
Eli Y Adashi
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Meta Analysis ◽  
Small Degree ◽  
Short Term ◽  
Benefit Ratio ◽  
Professional Societies ◽  
Fertility Treatments ◽  
Increased Risk

Abstract Whereas longstanding dogma has purported that pregnancies protect women from breast cancer, a recent meta-analysis now mandates reconsideration since it reported an actual higher breast cancer risk for more than two decades after childbirth before the relative risk turns negative. Moreover, the risk of breast cancer appears higher for women having their first birth at an older age and with a family history and it is not reduced by breastfeeding. The process of obtaining informed consent for all fertility treatments, therefore, must make patients aware of the facts that every pregnancy, to a small degree, will increase the short-term breast cancer risk. This observation may be even more relevant in cases of surrogacy where women agree to conceive without deriving benefits of offspring from assuming the risk, thus creating a substantially different risk-benefit ratio. Consequently, it appears prudent for professional societies in the field to update recommendations regarding consent information for all fertility treatments but especially for treatments involving surrogacy.

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 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 CTLA-4 polymorphisms associate with breast cancer susceptibility in Asians: a meta-analysis

PeerJ ◽  
2017 ◽  
Vol 5 ◽  
pp. e2815 ◽  
Author(s):  
Zhiming Dai ◽  
Tian Tian ◽  
Meng Wang ◽  
Xinghan Liu ◽  
Shuai Lin ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Large Scale ◽  
Cancer Susceptibility ◽  
Cytotoxic T Lymphocyte ◽  
Meta Analysis ◽  
Breast Cancer Susceptibility ◽  
Breast Cancer Patients ◽  
Link Type

Previous studies have investigated the association between cytotoxic T-lymphocyte antigen-4 (CTLA-4) polymorphisms and breast cancer susceptibility, but the results remained inconsistent. Therefore, we evaluated the relationship between four common CTLA-4 polymorphisms and breast cancer risk by a meta-analysis, aiming to derive a comprehensive and precise conclusion. We searched EMBASE, Pubmed, Web of Science, CNKI, and Wanfang databases until July 18th, 2016. Finally, ten eligible studies involving 4,544 breast cancer patients and 4,515 cancer-free controls were included; all these studies were from Asia. Odds ratio (OR) and 95% confidence interval (CI) were used to evaluate the breast cancer risk in five genetic models. The results indicated that the CTLA-4 +49A>G (rs231775) polymorphism had a significant association with decreased breast cancer risk in allelic, homozygous, dominant and recessive models. Also, the +6230G>A (rs3087243) polymorphism reduced breast cancer risk especially in the Chinese population under homozygous and recessive models. In contrast, the −1661A>G (rs4553808) polymorphism increased breast cancer risk in allelic, heterozygous and dominant models, whereas −1722 T>C (rs733618) did not relate to breast cancer risk. In conclusion, CTLA-4 polymorphisms significantly associate with breast cancer susceptibility in Asian populations, and different gene loci may have different effects on breast cancer development. Further large-scale studies including multi-racial populations are required to confirm our findings.

scholarly journals Association of the Three Common SNPs of Cyclooxygenase-2 Gene (rs20417, rs689466, and rs5275) with the Susceptibility of Breast Cancer: An Updated Meta-Analysis Involving 34,590 Subjects

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Zhi-Jun Dai ◽  
Yong-Ping Shao ◽  
Xiao-Bin Ma ◽  
Dan Xu ◽  
Wei Tang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Meta Analysis ◽  
Cyclooxygenase 2 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Cancer Types ◽  
Cox 2

Several single nucleotide polymorphisms have been identified in cyclooxygenase-2 (COX-2) genes (e.g., −765 G>C (rs20417), −1195G>A (rs689466), and 8473 C>T (rs5275)). The association of these SNPs with the risk of different cancer types is still controversial. This study aims to evaluate the correlation between these SNPs and breast cancer risk in different ethnic groups. We have searched PubMed, Web of Knowledge, and Embase for relevant studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to estimate the strength of the associations. A total of 13 studies (15,330 cases and 19,260 controls) were eligible for meta-analysis. This meta-analysis showed that COX-2 rs20417 polymorphism was correlated with an increased risk of breast cancer in Caucasians, while rs689466 was associated with a decreased risk of breast cancer in Caucasians. The rs5275 polymorphism had no association with breast cancer risk.

scholarly journals Mammographic Density Changes over Time and Breast Cancer Risk: A Systematic Review and Meta-Analysis

Cancers ◽  
2021 ◽  
Vol 13 (19) ◽  
pp. 4805
Author(s):  
Arezo Mokhtary ◽  
Andreas Karakatsanis ◽  
Antonis Valachis
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cohort Studies ◽  
Mammographic Density ◽  
Breast Density ◽  
Meta Analysis ◽  
Increased Risk ◽  
Changes Over Time ◽  
Over Time

The aim of this meta-analysis was to evaluate the association between mammographic density changes over time and the risk of breast cancer. We performed a systematic literature review based on the PubMed and ISI Web of Knowledge databases. A meta-analysis was conducted by computing extracted hazard ratios (HRs) and 95% confidence intervals (CIs) for cohort studies or odds ratios (ORs) and 95% confidence interval using inverse variance method. Of the nine studies included, five were cohort studies that used HR as a measurement type for their statistical analysis and four were case–control or cohort studies that used OR as a measurement type. Increased breast density over time in cohort studies was associated with higher breast cancer risk (HR: 1.61; 95% CI: 1.33–1.96) whereas decreased breast density over time was associated with lower breast cancer risk (HR: 0.78; 95% CI: 0.71–0.87). Similarly, increased breast density over time was associated with higher breast cancer risk in studies presented ORs (pooled OR: 1.85; 95% CI: 1.29–2.65). Our findings imply that an increase in breast density over time seems to be linked to an increased risk of breast cancer, whereas a decrease in breast density over time seems to be linked to a lower risk 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.

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.

Role of Polymorphisms of FAM13A, PHLDB1, and CYP24A1 in Breast Cancer Risk

2019 ◽  
Vol 19 (8) ◽  
pp. 579-588 ◽  
Author(s):  
Ying Wei ◽  
Xiaolin Wang ◽  
Zhe Zhang ◽  
Mingrui Xie ◽  
Yuyao Li ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cancer Susceptibility ◽  
Recessive Model ◽  
Chinese Han Population ◽  
Breast Cancer Patients ◽  
Chinese Han ◽  
Han Population ◽  
Increased Risk

Background: Single-nucleotide polymorphisms (SNPs) are important indicators of susceptibility to breast cancer. Objective: To assess the associations between SNPs in the FAM13A, PHLDB1, and CYP24A1 gene and breast cancer risk in the Chinese Han population. Methods: We performed a case-control study including 379 female breast cancer patients and 407 female healthy controls. The three SNPs were genotyped using Agena MassARRAY platform. The χ2 test was used to compare alleles and genotypes frequencies of polymorphisms between case and control groups. Genetic models analyses to assess the associations between SNPs and breast cancer risk by computing odds ratios (ORs) and 95% confidence intervals (CIs) using logistic regression. RegulomeDB and HaploReg databases were used to calculate possible functional effects of polymorphisms. Results: Overall analysis results showed that rs4809957 was associated with an increased risk of breast cancer (allele A: OR = 1.27, 95% CI: 1.03-1.55, p = 0.024; AA vs. GG: OR = 1.80, 95% CI: 1.15–2.82, p = 0.010; recessive model: OR = 1.70, 95% CI: 1.12–2.58, p = 0.012); and rs1059122 was found to be associated with a reduced breast cancer risk in the recessive model (OR = 0.71, 95% CI: 0.51–0.98, p = 0.039). Stratification analysis found significant associations between the three SNPs (rs1059122, rs17748, and rs4809957) and breast cancer risk. Conclusion: Our results suggested that rs1059122 (FAM13A), rs17748 (PHLDB1), and rs4809957 (CYP24A1) might contribute to breast cancer susceptibility in the Chinese Han population. Future studies with large samples are required to confirm our findings, as well as functional studies are needed to explore their function in the breast cancer development.

Breast Cancer Risk Assessment: A Guide for Clinicians Using the NCCN Breast Cancer Risk Reduction Guidelines

2003 ◽  
Vol 1 (2) ◽  
pp. 297-301 ◽  
Author(s):  
Sofia D. Merajver ◽  
Kara Milliron
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
The United States ◽  
Cancer Risk Assessment ◽  
Increased Risk ◽  
Breast Cancer Risk Assessment

Breast cancer, a complex and heterogeneous disease, is the most common malignancy diagnosed in women in the United States, with over 180,000 new cases and approximately 44,000 deaths per year. Breast cancer risk is influenced by a large number of factors, including age, family history, reproductive and hormonal history, proliferative breast conditions, physical activity, diet, and environmental exposures. These factors all interact in a complex manner to contribute to the risk of developing breast cancer. Because the interactions between risk factors are poorly understood at the molecular level, it is difficult to accurately evaluate the breast cancer risk of a given person presenting with an individual constellation of factors. To better define the population at increased risk that may warrant specific intervention, several models exist to estimate a woman's risk for developing breast cancer and for harboring a germline mutation in a cancer susceptibility gene. This article summarizes these models and gives brief guidelines about which model may be preferable given a specific family history.

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