Abstract
Published data on the association between single nucleotide polymorphisms (SNPs) in the ESR1 gene and breast cancer susceptibility are inconclusive or controversial. The aim of this Human Genome Epidemiology (HuGE) review and meta-analysis was to derive a more precise estimation of this relationship. A literature search of Pubmed, Embase, Web of science and CBM databases was conducted from inception through September 1 th, 2012. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association. A total of five studies including 1,678 breast cancer cases and 1,678 general population controls in Asian populations were involved in this meta-analysis. When all the eligible studies were pooled into the meta-analysis, the higher transcriptional activity variant allele T of ESR1 PvuII (C>T) (rs2234693) in pre-menopausal breast cancer women showed a significant relation to increased risk (OR = 1.13, 95%CI: 1.01-1.28, P = 0.040) in contrast to their post-menopausal counterparts which showed non-significant increased risk (OR = 1.01, 95%CI: 0.87-1.18, P = 0.858). Nevertheless, no significant association between ESR1 XbaI (A>G) (rs9340799) polymorphism and the risk of breast cancer was observed in pre-menopausal and post-menopausal individuals. Based on a homogeneous Asian population, results from the current meta-analysis indicates that the ESR1 PvuII (C>T) polymorphism places pre-menopausal breast cancer women at risk for breast cancer, while ESR1 XbaI (A>G) polymorphism is not likely to predict the risk of breast cancer.
Highlights
Breast cancer, as the most frequent cancer among females worldwide, has been estimated that over one million women are diagnosed annually and more than 410,000 will die from the disease (Jemal et al, 2011), which is the leading cause of cancer-related mortality and accounts for approximate 14% of all cancer deaths (Ferlay et al, 2010)
When all the eligible studies were pooled into the meta-analysis, the higher transcriptional activity variant allele T of Estrogen receptor 1 (ESR1) PvuII (C>T) in pre-menopausal breast cancer women showed a significant relation to increased risk (OR = 1.13, 95%confidence intervals (CIs): 1.01-1.28, P = 0.040) in contrast to their post-menopausal counterparts which showed non-significant increased risk (OR = 1.01, 95%CI: 0.87-1.18, P = 0.858)
Inclusion and Exclusion Criteria Studies included in our meta-analysis have to meet the following criteria: (i) case-control study or cohort study focused on associations between ESR1 gene polymorphisms and breast cancer susceptibility; (ii) data were stratified by menopausal status among case and control ; (iii) all patients with the diagnosis of breast cancer confirmed by pathological or histological examination; (iv) sufficient published data about the size of the sample, odds ratio (OR), and their 95% confidence interval (CI); (v) published in English or Chinese language
Summary
As the most frequent cancer among females worldwide, has been estimated that over one million women are diagnosed annually and more than 410,000 will die from the disease (Jemal et al, 2011), which is the leading cause of cancer-related mortality and accounts for approximate 14% of all cancer deaths (Ferlay et al, 2010). Published data on the association between single nucleotide polymorphisms (SNPs) in the ESR1 gene and breast cancer susceptibility are inconclusive or controversial The aim of this Human Genome Epidemiology (HuGE) review and meta-analysis was to derive a more precise estimation of this relationship. When all the eligible studies were pooled into the meta-analysis, the higher transcriptional activity variant allele T of ESR1 PvuII (C>T) (rs2234693) in pre-menopausal breast cancer women showed a significant relation to increased risk (OR = 1.13, 95%CI: 1.01-1.28, P = 0.040) in contrast to their post-menopausal counterparts which showed non-significant increased risk (OR = 1.01, 95%CI: 0.87-1.18, P = 0.858). Conclusion: Based on a homogeneous Asian population, results from the current meta-analysis indicates that the ESR1 PvuII (C>T) polymorphism places pre-menopausal breast cancer women at risk for breast cancer, while ESR1 XbaI (A>G) polymorphism is not likely to predict the risk of breast cancer
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