ArticleHuman molecular genetics2009
Association of ESR1 gene tagging SNPs with breast cancer risk.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 5 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
56 citing papers in PubMed, 5 syntheses or guidelines pooled it, 97 citations in OpenAlex.
- Association between ESR1 polymorphisms (XbaI & PvuII) and breast cancer risk: a comprehensive meta-analysis of case-control studies.Breast cancer research and treatment · 2025Pooled it
- The rs9340799 polymorphism of the estrogen receptor alpha (ESR1) gene and its association with breast cancer susceptibility.Scientific reports · 2021Pooled it
- Association between ERα gene Pvu II polymorphism and breast cancer susceptibility: A meta-analysis.Medicine · 2018Pooled it
- Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.Nature genetics · 2016Pooled it
- Association Between ESR1 PvuII, XbaI, and P325P Polymorphisms and Breast Cancer Susceptibility: A Meta-Analysis.Medical science monitor : international medical journal of experimental and clinical research · 2015Pooled it
- ESR1 and ESR2 polymorphisms in the BIG 1-98 trial comparing adjuvant letrozole versus tamoxifen or their sequence for early breast cancer.Breast cancer research and treatment · 2015Trial
- Selected estrogen receptor 1 and androgen receptor gene polymorphisms in relation to risk of breast cancer and fibrocystic breast conditions among Chinese women.Cancer epidemiology · 2011Trial
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- Prediction of Short and Long Survival after Surgery for Breast Cancer Brain Metastases.Cancers · 2022Article
- Radiographic markers of breast cancer brain metastases: relation to clinical characteristics and postoperative outcome.Acta neurochirurgica · 2022Article
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- Genetic variations in estrogen and progesterone pathway genes in preeclampsia patients and controls in Bavaria.Archives of gynecology and obstetrics · 2021Article
- DOT: Gene-set analysis by combining decorrelated association statistics.PLoS computational biology · 2020Article
- Generating Ensembles of Gene Regulatory Networks to Assess Robustness of Disease Modules.Frontiers in genetics · 2020Article
- Low-penetrance susceptibility variants and postmenopausal oestrogen receptor positive breast cancer.Journal of genetics · 2020Article
- Review
- The distribution pattern of ERα expression, ESR1 genetic variation and expression of growth factor receptors: association with breast cancer prognosis in Russian patients treated with adjuvant tamoxifen.Clinical and experimental medicine · 2017Article
- Predicting Triple-Negative Breast Cancer Subtype Using Multiple Single Nucleotide Polymorphisms for Breast Cancer Risk and Several Variable Selection Methods.Geburtshilfe und Frauenheilkunde · 2017Article
- Association of three single nucleotide polymorphisms of ESR1with breast cancer susceptibility: a meta-analysis.Journal of biomedical research · 2017Article
- Article
Corrections and comments
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Authors and funding
99 authors at 20 institutions in 14 countries.
Funding
Abstract
We have conducted a three-stage, comprehensive single nucleotide polymorphism (SNP)-tagging association study of ESR1 gene variants (SNPs) in more than 55,000 breast cancer cases and controls from studies within the Breast Cancer Association Consortium (BCAC). No large risks or highly significant associations were revealed. SNP rs3020314, tagging a region of ESR1 intron 4, is associated with an increase in breast cancer susceptibility with a dominant mode of action in European populations. Carriers of the c-allele have an odds ratio (OR) of 1.05 [95% Confidence Intervals (CI) 1.02-1.09] relative to t-allele homozygotes, P = 0.004. There is significant heterogeneity between studies, P = 0.002. The increased risk appears largely confined to oestrogen receptor-positive tumour risk. The region tagged by SNP rs3020314 contains sequence that is more highly conserved across mammalian species than the rest of intron 4, and it may subtly alter the ratio of two mRNA splice forms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.