Association between polymorphisms of the ataxia telangiectasia mutated gene and breast cancer risk: evidence from the current studies

Lu, Pei-Hua; Wei, Mu-Xin; Si, Shuping; Liu, Xiao; Shen, Wei; Chen, Min-Bin

doi:10.1007/s10549-010-1081-y

Cited by 13 publications

(8 citation statements)

References 17 publications

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“…Up to now, 5 meta-analyses have been performed for the role of the rs1801516 polymorphism on cancer risk: 4 on breast cancer [8, 46–48] and 1 on thyroid cancer [49]. One of the meta-analyses showed that homozygous carriers of the rs1801516 genotype had a lower breast cancer risk compared with carriers of the heterozygous and homozygous wild-type genotypes [48]. However, the other studies did not find a significant association between the rs1801516 polymorphism and cancer risk [8, 46, 47, 49].…”

Section: Discussionmentioning

confidence: 99%

Gene-environment interaction for polymorphisms in ataxia telangiectasia-mutated gene and radiation exposure in carcinogenesis: results from two literature-based meta-analyses of 27120 participants

Zhao

Yang

et al. 2016

Oncotarget

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PurposeWe conducted two meta-analyses of ATM genetic polymorphisms and cancer risk in individuals with or without radiation exposure to determine whether there was a joint effect between the ATM gene and radiation exposure in carcinogenesis.Resultsrs1801516, which was the only ATM polymorphism investigated by more than 3 studies of radiation exposure, was eligible for the present study. The meta-analysis of 23333 individuals without radiation exposure from 24 studies showed no association between the rs1801516 polymorphism and cancer risk, without heterogeneity across studies. The meta-analysis of 3787 individuals with radiation exposure from 6 studies showed a significant association between the rs1801516 polymorphism and a decreased cancer risk, with heterogeneity across studies. There was a borderline-significant difference between the ORs of the two meta-analyses (P = 0.066), and the difference was significant when only Caucasians were included (P = 0.011).Materials and methodsPublications were identified by searching PubMed, EMBASE, Web of Science, and CNKI databases. Odds ratios (ORs) were calculated to estimate the association between ATM genetic polymorphisms and cancer risk. Tests of interaction were used to compare differences between the ORs of the two meta-analyses.ConclusionsOur meta-analyses confirmed the presence of a gene-environment interaction between the rs1801516 polymorphism and radiation exposure in carcinogenesis, whereas no association was found between the rs1801516 polymorphism and cancer risk for individuals without radiation exposure. The heterogeneity observed in the meta-analysis of individuals with radiation exposure might be due to gene-ethnicity or gene-gene interactions. Further studies are needed to elucidate sources of the heterogeneity.

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Section: Discussionmentioning

confidence: 99%

Gene-environment interaction for polymorphisms in ataxia telangiectasia-mutated gene and radiation exposure in carcinogenesis: results from two literature-based meta-analyses of 27120 participants

Zhao

Yang

et al. 2016

Oncotarget

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“…

We read with great interest the recent article by Lu et al [1] which assessed the association between polymorphisms of the ataxia telangiectasia mutated (ATM) gene and breast cancer risk with a meta-analysis involving five studies of 2,604 cases and 1,973 controls. This was an important investigation as the association has been inconsistent based on the previous individual studies.

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confidence: 99%

“…GG: OR = 0.78, 95% CI 0.59-1.04). After carefully reading the two articles, we noted several methodological issues in the study by Lu et al [1].…”

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confidence: 99%

“…First, although the authors [1] claimed that they used comprehensive databases to search the potential eligible studies, they omitted at least five studies [3][4][5][6][7] that met their inclusion criteria for ATM 5557G[A polymorphism, which did make the strength of the association be inaccurate. However, as the study by Tapia et al [3] was not in Hardy-Weinberg equilibrium (HWE) in controls, it should be excluded in the final meta-analysis.…”

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Are polymorphisms of the ataxia telangiectasia mutated gene associated with breast cancer risk?

Jin

Jiang

Liu

et al. 2011

Breast Cancer Res Treat

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We read with great interest the recent article by Lu et al. [1] which assessed the association between polymorphisms of the ataxia telangiectasia mutated (ATM) gene and breast cancer risk with a meta-analysis involving five studies of 2,604 cases and 1,973 controls. This was an important investigation as the association has been inconsistent based on the previous individual studies. The results of metaanalysis indicated that for ATM 5557G[A polymorphism (also known as D1853N or rs1801516), AA genotype significantly decreased the risk of breast cancer compared with GA and GG genotypes [odds ratio (OR) = 0.67, 95% confidence interval (CI) 0.51-0.89]. However, another recent meta-analysis by Gao et al. [2] including nine studies of 4,191 cases and 3,780 controls suggested that ATM 5557G[A polymorphism was not significantly associated with breast cancer risk (AA vs. GA ? GG: OR = 0.78, 95% CI 0.59-1.04). After carefully reading the two articles, we noted several methodological issues in the study by Lu et al. [1].First, although the authors [1] claimed that they used comprehensive databases to search the potential eligible studies, they omitted at least five studies [3-7] that met their inclusion criteria for ATM 5557G[A polymorphism, which did make the strength of the association be inaccurate. However, as the study by Tapia et al. [3] was not in Hardy-Weinberg equilibrium (HWE) in controls, it should be excluded in the final meta-analysis. In addition, the meta-analysis by Gao L et al. [2] omitted one eligible study [8] and included one ineligible study [3]. Therefore, we re-assessed the association between ATM 5557G[A polymorphism and breast cancer (Fig. 1). Our results suggested that AA genotype was associated with decreased risk of breast cancer, compared with GA and GG genotypes in Caucasians (OR = 0.69, 95% CI 0.54-0.89).Second, there were several mistakes in Tables 1 and 2.

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“…Large-sample case-control studies have assessed effects of this polymorphism on risk of breast cancer, prostate cancer, rectal cancer, bladder cancer, lung cancer, pancreatic cancer, and thyroid cancer. Meta-analyses have also been performed to assess ATM rs1801516 polymorphism and cancer predisposition, but the results are inconsistent [ 10 – 14 ].…”

Section: Introductionmentioning

confidence: 99%

Association between ATM rs1801516 polymorphism and cancer susceptibility: a meta-analysis involving 12,879 cases and 18,054 controls

Shi

Qiu

et al. 2018

BMC Cancer

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BackgroundAtaxia telangiectasia mutated (ATM) gene plays a key role in response to DNA lesions and is related to the invasion and metastasis of malignancy. Epidemiological studies have indicated associations between ATM rs1801516 polymorphism and different types of cancer, but their results are inconsistent. To further evaluate the effect of ATM rs1801516 polymorphism on cancer risk, we conducted this meta-analysis.MethodsStudies were identified according to specific inclusion criteria by searching PubMed, Web of Science, and Embase databases. Pooled odds ratios (ORs) and corresponding 95% confidence intervals (CIs) under recessive, dominant, codominant, and overdominant models of inheritance were calculated to estimate the association between rs1801516 polymorphism and cancer risk.ResultsA total of 37 studies with 12,879 cases and 18,054 controls were included in our study. No significant association was found between rs1801516 polymorphism and cancer risk in overall comparisons (AA vs GG + GA: OR = 0.91, 95% CI, 0.78–1.07; AA+GA vs GG: OR = 1.00, 95% CI, 0.90–1.11; AA vs GG: OR = 0.89, 95% CI, 0.75–1.06; GA vs GG: OR = 1.01, 95% CI, 0.91–1.13; GG + AA vs GA: OR = 1.00, 95% CI, 0.88–1.10). However, after subgroup analyses by region-specified population, significant associations were found in European (AA vs GG + GA: OR = 0.79, 95% CI, 0.65–0.96, P = 0.017; AA vs GG: OR = 0.79, 95% CI, 0.65–0.96, P = 0.017), South American (AA+GA vs GG: OR = 2.15, 95% CI, 1.37–3.38, P = 0.001; GA vs GG: OR = 2.19, 95% CI, 1.38–3.47, P = 0.001; GG + AA vs GA: OR = 0.46, 95% CI, 0.29–0.72, P = 0.001), and Asian (AA vs GG + GA: OR = 7.45, 95% CI, 1.31–42.46, P = 0.024; AA vs GG: OR = 7.40, 95% CI, 1.30–42.19, P = 0.024). Subgroup analyses also revealed that compared with subjects carrying a GG genotype, those carrying a homozygote AA had a decreased risk for breast cancer (AA vs GG: OR = 0.76, 95% CI, 0.59–0.98, P = 0.035), and the homozygote AA was associated with decreased cancer risk in subjects with family history (AA vs GG: OR = 0.68, 95% CI, 0.47–0.98, P = 0.039).ConclusionsATM rs1801516 polymorphism is not associated with overall cancer risk in total population. However, for subgroup analyses, this polymorphism is especially associated with breast cancer risk; in addition, it is associated with overall cancer risk in Europeans, South Americans, Asians, and those with family history.Electronic supplementary materialThe online version of this article (10.1186/s12885-018-4941-1) contains supplementary material, which is available to authorized users.

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Association between polymorphisms of the ataxia telangiectasia mutated gene and breast cancer risk: evidence from the current studies

Cited by 13 publications

References 17 publications

Gene-environment interaction for polymorphisms in ataxia telangiectasia-mutated gene and radiation exposure in carcinogenesis: results from two literature-based meta-analyses of 27120 participants

Gene-environment interaction for polymorphisms in ataxia telangiectasia-mutated gene and radiation exposure in carcinogenesis: results from two literature-based meta-analyses of 27120 participants

Are polymorphisms of the ataxia telangiectasia mutated gene associated with breast cancer risk?

Association between ATM rs1801516 polymorphism and cancer susceptibility: a meta-analysis involving 12,879 cases and 18,054 controls

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