Potentially functional polymorphisms in ESR1 and breast cancer risk: a meta-analysis
Abstract
Estrogen exposure is a central risk factor in the development of breast cancer. Estrogen receptor alpha (coded by ESR1) is the key mediator of estrogen response in mammary tissue. Genetic changes altering the expression of ESR1 is likely to affect breast cancer susceptibility. Since the identification of several potentially functional polymorphisms in ESR1 (rs2234693, rs9340799, rs1801132, rs3798577, rs2228480), molecular epidemiological studies were conducted in recent years to evaluate the association between polymorphisms and breast cancer risk in diverse populations. However, the results remain conflicting rather than conclusive. This current analysis on 10,300 breast cancer cases and 16,620 controls on rs2234693 showed a borderline significant decreased breast cancer risk for CC and CC/CT carriers (CC vs. TT: OR, 0.92, 95% CI, 0.86-0.99; CC/CT vs. TT: OR, 0.95, 95% CI, 0.89-1.00). Variant genotypes of the rs1801132 polymorphism were also associated with a decreased breast cancer risk in a dominant model in 5,649 cases and 6,856 controls (GG/GC vs. CC: OR, 0.92, 95% CI, 0.85-0.99). These results suggest that potentially functional ESR1 polymorphisms may play a low penetrance role in breast cancer susceptibility. SNPs rs9340799, rs3798577, rs2228480, and rs2077647 in ESR1 were not causative SNPs. SNPs rs2747648, rs1062577, and rs3020314 were recommended in further association studies and functional evaluations.
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CC and CT genotypes may be associated with a small reduction in risk of breast cancer compared to TT: CC vs TT OR 0.92 (95% CI 0.86-0.99), and CC/CT vs TT OR 0.95 (95% CI 0.89-1.00).
“For instance, CC and CT genotypes may be associated with a small reduction in risk of breast cancer compared to TT: CC vs. TT: OR 0.92, 95%CI 0.86-0.99, and CC/CT vs. TT: OR 0.95, 95%CI 0.89-1.00 [167].”
From Soy, Red Clover, and Isoflavones and Breast Cancer: A Systematic Review (2013) · cites this paper as [167]
ESR1 codes for estrogen receptor α, and variations may be associated with risk of breast cancer.
“ESR1 codes for the estrogen receptor α, and variations may be associated with risk of breast cancer [167].”
From Soy, Red Clover, and Isoflavones and Breast Cancer: A Systematic Review (2013) · cites this paper as [167]
Cites
Quantitative Synthesis in Systematic Reviews
Lau, J., Ioannidis, J. P. A., & Schmid, C. H. (1997) · Annals of Internal Medicine · doi:10.7326/0003-4819-127-9-199711010-00008 · Cited by 2,517 · cited 1× · see citing works
“We estimated the between-study heterogeneity across the eligible comparisons using the v(2)based Q test [35], and the heterogeneity was considered significant for P \ 0.”
MethodGenome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1
Zheng, W., Long, J., Gao, Y.-T., Li, C., Zheng, Y., Xiang, Y.-B., Wen, W., Levy, S., Deming, S. L., Haines, J. L., et al. (2009) · Nature Genetics · doi:10.1038/ng.318 · Cited by 541 · see citing works
Association of polymorphisms of the oestrogen receptoralpha gene with the age of menarche
Stavrou, I. (2002) · Human Reproduction · doi:10.1093/humrep/17.4.1101 · Cited by 126 · see citing works
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Soy, Red Clover, and Isoflavones and Breast Cancer: A Systematic Review
Fritz, H., Seely, D., Flower, G., Skidmore, B., Fernandes, R., Vadeboncoeur, S., Kennedy, D., Cooley, K., Wong, R., Sagar, S., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0081968 · Cited by 188 · see citing works
- Authors
- Li, N., Dong, J., Hu, Z., Shen, H., & Dai, M.
- Affiliations
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Nanjing Medical University (CN)
- Corresponding author
- Dai, Min
- Venue
- Breast Cancer Research and Treatment
- Published
- 2009-09-17
- Volume
- 121
- Issue
- 1
- Pages
- 177-184
- ISSN
- 0167-6806 (ISSN-L)
- 1573-7217
- OpenAlex
- W2075155215
- Cited by
- 56
- References
- 3
- Citations by year
- 2026: 1 · 2025: 2 · 2022: 2 · 2021: 2 · 2020: 1 · 2019: 3 · 2018: 1 · 2017: 2 · 2016: 3 · 2015: 5 · 2014: 8 · 2013: 6 · 2012: 11
- FWCI
- 0.63
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Breast Cancer Research and Treatment (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Estrogen and related hormone effects
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- ESR1, estrogen receptor alpha, breast cancer risk, single nucleotide polymorphisms, genetic susceptibility, rs2234693, rs9340799, estrogen exposure, low penetrance
- MeSH terms
- Breast Neoplasms, Female, Humans, Risk Factors, Penetrance, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Estrogen Receptor alpha
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