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Updated: Apr 24, 2026

Systems Biology of Metabolic Regulation by Estrogen Receptor Signaling in Breast Cancer
Published on: March 17, 2016
Estrogen receptor 1 (ESR1) genetic variations in cancer risk: a systematic review and meta-analysis
Huiling Sun1, Jinjun Hou2, Wenbin Shi3
1Department of Life Sciences, Nanjing Normal University, Nanjing 210046, Jiangsu, China.
Background:
Emerging published data on the association between single nucleotide polymorphisms (SNPs) in the estrogen receptor 1 (ESR1) gene and cancer susceptibility are inconsistent. This review and meta-analysis is performed to derive a more precise evaluation of this relationship.
Methods:
The literature search of PubMed, Embase, Web of Science and CNKI databases was conducted from their inception through June 2014. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the association.
Results:
Twenty-two literatures were enrolled in this meta-analysis. The results indicated that ESR1 rs1801132 (C>G) was associated with cancer risk in Caucasian populations. However, the results of stratified analysis by cancer type and source of controls indicated that no significant association was found. Furthermore, rs2077647 (A>G) was only associated with an increased risk of hepatocellular carcinoma, but was an adverse effect on cancer risk in Caucasian populations.
Conclusions:
This present meta-analysis indicated that rs1801132 (C>G) and rs2077647 (A>G) may be protective factors in Caucasian populations. Meanwhile, rs2077647 (A>G) may be closely related with hepatocellular carcinoma.
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