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

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.

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

10.21203/rs.2.19205/v2 ◽

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.

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

Disease Markers ◽

10.1155/2015/690878 ◽

2015 ◽

Vol 2015 ◽

pp. 1-16 ◽

Cited By ~ 12

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.

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

10.21203/rs.2.19205/v1 ◽

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.

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Association of Five Snps in Cytotoxic T-Lymphocyte Antigen 4 and Cancer Susceptibility: Evidence from 67 Studies

Cellular Physiology and Biochemistry ◽

10.1159/000489953 ◽

2018 ◽

Vol 47 (1) ◽

pp. 414-427 ◽

Cited By ~ 9

Author(s):

Min Fang ◽

Wencheng Huang ◽

Dan Mo ◽

Wei Zhao ◽

Rongyong Huang

Keyword(s):

Cancer Risk ◽

Head And Neck ◽

Cancer Susceptibility ◽

Cytotoxic T Lymphocyte ◽

Meta Analysis ◽

Asian Population ◽

Cancer Type ◽

Case Control Studies ◽

Pancreatic Cancers ◽

Increased Risk

Background/Aims: CTLA-4 polymorphisms are associated with susceptibility to various cancers, but the results are often conflicting. Hence, we performed a comprehensive meta-analysis to quantitatively investigate the association between CTLA-4 polymorphisms (rs231775, rs4553808，rs5742909, rs3087243 or rs733618) and cancer risk. Methods: Data were collected from PubMed and Web of Science. A total of 67 case-control studies were selected for quantitative analysis. Stata (Version 12) software was used to calculate the odds ratio (OR) and 95% confidence interval (CI) to evaluate the strength of the associations. Subgroup meta-analysis was conducted based on ethnicity and cancer type. Heterogeneity tests, sensitivity analysis, and publication bias assessments were also performed. Results: rs231775, rs4553808 and rs5742909 but not rs3087243 and rs733618 were significantly related to cancer risk. In analyses stratified by ethnicity, both rs231775 and rs4553808 were significant susceptibility polymorphisms in an Asian population but not in a Caucasian population. Moreover, there were stronger associations between the rs231775 polymorphism and increased risk of bone, breast, liver, head and neck and pancreatic cancers. Additionally, rs4553808 was associated with significantly increased susceptibility to breast cancer and head and neck cancer. Conclusion: rs231775, rs4553808 and rs5742909 may be used as predictive genetic biomarkers for cancer predisposition. Combined detection of CTLA-4 SNPs could be a useful tool for prediction of cancer susceptibility in clinical practice.

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

Human Reproduction ◽

10.1093/humrep/deaa102 ◽

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.

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Relevance of hMLH1 -93G>A, 655A>G and 1151T>A polymorphisms with colorectal cancer susceptibility: a meta-analysis based on 38 case-control studies

Revista da Associação Médica Brasileira ◽

10.1590/1806-9282.64.10.942 ◽

2018 ◽

Vol 64 (10) ◽

pp. 942-951 ◽

Cited By ~ 1

Author(s):

Mohammad Zare ◽

Jamal Jafari-Nedooshan ◽

Mohammadali Jafari ◽

Hossein Neamatzadeh ◽

Seyed Mojtaba Abolbaghaei ◽

...

Keyword(s):

Colorectal Cancer ◽

Cancer Susceptibility ◽

Meta Analysis ◽

Asian Population ◽

Case Control ◽

Biomedical Literature ◽

Case Control Studies ◽

Increased Risk ◽

Comprehensive Search ◽

Meta Analyses

SUMMARY OBJECTIVE: There has been increasing interest in the study of the association between human mutL homolog 1 (hMLH1) gene polymorphisms and risk of colorectal cancer (CRC). However, results from previous studies are inconclusive. Thus, a meta-analysis was conducted to derive a more precise estimation of the effects of this gene. METHODS: A comprehensive search was conducted in the PubMed, EMBASE, Chinese Biomedical Literature databases until January 1, 2018. Odds ratio (OR) with 95% confidence interval (CI) was used to assess the strength of the association. RESULTS: Finally, 38 case-control studies in 32 publications were identified met our inclusion criteria. There were 14 studies with 20668 cases and 19533 controls on hMLH1 −93G>A, 11 studies with 5,786 cases and 8,867 controls on 655A>G and 5 studies with 1409 cases and 1637 controls on 1151T>A polymorphism. The combined results showed that 655A>G and 1151T>A polymorphisms were significantly associated with CRC risk, whereas −93G>A polymorphism was not significantly associated with CRC risk. As for ethnicity, −93G>A and 655A>G polymorphisms were associated with increased risk of CRC among Asians, but not among Caucasians. More interestingly, subgroup analysis indicated that 655A>G might raise CRC risk in PCR-RFLP and HB subgroups. CONCLUSION: Inconsistent with previous meta-analyses, this meta-analysis shows that the hMLH1 655A>G and 1151T>A polymorphisms might be risk factors for CRC. Moreover, the −93G>A polymorphism is associated with the susceptibility of CRC in Asian population.

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

Cancers ◽

10.3390/cancers13225654 ◽

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.

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p.Arg72Pro polymorphism of P53 and Breast Cancer Risk: A meta-analysis of case-control studies

10.21203/rs.2.18400/v3 ◽

2020 ◽

Author(s):

Brehima Diakite ◽

Yaya Kassogue ◽

Guimogo Dolo ◽

Jun Wang ◽

Erin Neuschler ◽

...

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Meta Analysis ◽

Additive Model ◽

P53 Gene ◽

Case Control ◽

Additive Models ◽

Case Control Studies ◽

Genotype Frequencies

Abstract Background :The effect of the p.Arg72Pro variant of the P53 gene on the risk of developmentof breast cancer remains variable in populations. However, the use of strategiessuchas pooling age-matched controls with disease cases may provide a solid meta-analysis. Our goal was to perform a meta-analysis in order to assessthe association of p.Arg72Provariant of P53 gene with breast cancer risk. Methods : Databases such as PubMed, Genetics Medical Literature, Harvard University Library, Web of Science and Genesis Library were used to search articles. Age-matched case-control studies on breast cancer that have evaluated the genotype frequencies of the p.Arg72Pro of P53 gene were selected. The fixed and random effects (Mantel-Haenszel) were calculated using pooled odds ratio of 95% CI to determine the risk of disease. Inconsistency was calculated to determine heterogeneity among the studies. The publication bias was estimated using the funnel plot. Results : Twenty-one publications with cases age-matched controls including7841disease cases and 8876controls were evaluated in this meta-analysis. Overall, our results suggested that p.Arg72ProP53 was associated with a risk for breast cancer for the dominant model (OR= 1.09, 95% CI = 1.02-1.16; P= 0.01) and the additive model (OR= 1.09, 95% CI = 1.01-1.17; P= 0.03), but not in the recessive model (OR = 1.07, 95% CI = 0.97-1.16; P= 0.19). According to the ethnic group, allele Pro has been associated with breast cancer risk in Europeans for the dominant and additive models. Conclusions : This meta-analysis found a significant association between p.Arg72Pro in the P53 gene and the risk of breast cancer. Individuals carrying at least one Pro allele of the P53 gene are more likely to have breast cancer with dominant and additive models than individualsharboringthe Arg allele.

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Linoleic acid and breast cancer risk: a meta-analysis

Public Health Nutrition ◽

10.1017/s136898001500289x ◽

2015 ◽

Vol 19 (8) ◽

pp. 1457-1463 ◽

Cited By ~ 14

Author(s):

Yunping Zhou ◽

Tao Wang ◽

Shenyong Zhai ◽

Wei Li ◽

Qiang Meng

Keyword(s):

Breast Cancer ◽

Linoleic Acid ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Meta Analysis ◽

Random Effect ◽

Case Control Studies ◽

Acid Intake ◽

Linoleic Acid Intake ◽

Study Heterogeneity

AbstractObjectivePrior studies on linoleic acid, the predominant n-6 fatty acid, and breast cancer risk have generated inconsistent results. We performed a meta-analysis to summarize the evidence regarding the relationship of dietary and serum linoleic acid with breast cancer risk.DesignPertinent studies were identified by a search of PubMed and EMBASE. The fixed- or random-effect pooled measure was selected based on between-study heterogeneity.ResultsEight prospective cohort studies and four prospective nested case–control studies, involving 10 410 breast cancer events from 358 955 adult females across different countries, were included in present study. Compared with the lowest level of linoleic acid, the pooled relative risk (RR; 95 % CI) of breast cancer was 0·98 (0·93, 1·04) for the highest level of linoleic acid. The pooled RR (95 % CI) for dietary and serum linoleic acid were 0·99 (0·92, 1·06) and 0·98 (0·88, 1·08), respectively. The RR (95 % CI) of breast cancer was 0·97 (0·91, 1·04), 0·95 (0·85, 1·07), 0·96 (0·86, 1·07), 0·98 (0·87, 1·10) and 0·99 (0·85, 1·14) for linoleic acid intake of 5, 10, 15, 20 and 25 g/d, respectively. The risk of breast cancer decreased by 1 % (RR=0·99; 95 % CI 0·93, 1·05) for every 10 g/d increment in linoleic acid intake.ConclusionsThis meta-analysis indicated that both dietary linoleic acid intake and serum linoleic acid level were associated with decreased risk of breast cancer, although none of the associations were statistically significant. Further investigations are warranted.

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Association between BRCA1 polymorphisms rs799917 and rs1799966 and breast cancer risk: a meta-analysis

Journal of International Medical Research ◽

10.1177/0300060519826819 ◽

2019 ◽

Vol 47 (4) ◽

pp. 1409-1416

Author(s):

Meiming Yang ◽

Xiaoli Du ◽

Feng Zhang ◽

Shifang Yuan

Keyword(s):

Breast Cancer ◽

Breast Cancer Risk ◽

Cancer Risk ◽

Confidence Intervals ◽

Subgroup Analysis ◽

Meta Analysis ◽

Recessive Model ◽

Dominant Model ◽

Odds Ratios

Background Several studies have reported correlations between BRCA1 polymorphisms rs799917 and rs1799966 with the risk of breast cancer (BC). However, this relationship remains controversial. Methods We conducted a meta-analysis of seven studies to assess the associations between BRCA1 rs799917 and rs1799966 and BC risk, with the aim of more accurately determining the potential correlation. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated to evaluate the correlation of rs799917 and rs1799966 with BC risk. Results There was no overall correlation between BRCA1 rs799917 and BC risk (TT vs CC: OR = 0.87, 95% CI = 0.66–1.16; CT vs CC: OR = 1.02, 95% CI = 0.89–1.15; dominant model: OR = 0.99, 95% CI = 0.88–1.11; recessive model: OR = 0.87, 95% CI = 0.65–1.16). Subgroup analysis by ethnicity also revealed no significant correlation between rs799917 and BC risk in either Asians or Caucasians. There was also no significant association between BRCA1 rs1799966 and BC risk (GG vs AA: OR = 0.70, 95% CI = 0.33–1.47; AG vs AA: OR = 0.68, 95% CI = 0.35–1.30; dominant model: OR = 0.76, 95% CI = 0.49–1.06; recessive model: OR = 0.82, 95% CI = 0.49–1.36). Conclusion BRCA1polymorphisms rs799917 and rs1799966 were not significantly associated with BC risk in this meta-analysis.

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