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Breast Cancer Research
Published in: Breast Cancer Research 1/2008

Open Access 01-02-2008 | Research article

ESR1 and EGFgenetic variation in relation to breast cancer risk and survival

Authors: Kristjana Einarsdóttir, Hatef Darabi, Yi Li, Yen Ling Low, Yu Qing Li, Carine Bonnard, Arvid Sjölander, Kamila Czene, Sara Wedrén, Edison T Liu, Per Hall, Keith Humphreys, Jianjun Liu

Published in: Breast Cancer Research | Issue 1/2008

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Abstract

Introduction

Oestrogen exposure is a central factor in the development of breast cancer. Oestrogen receptor alpha (ESR1) is the main mediator of oestrogen effect in breast epithelia and has also been shown to be activated by epidermal growth factor (EGF). We sought to determine if common genetic variation in the ESR1 and EGF genes affects breast cancer risk, tumour characteristics or breast cancer survival.

Methods

We genotyped 157 single nucleotide polymorphisms (SNPs) in ESR1 and 54 SNPs in EGF in 92 Swedish controls and selected haplotype tagging SNPs (tagSNPs) that could predict both single SNP and haplotype variation in the genes with an R2 of at least 0.8. The tagSNPs were genotyped in 1,590 breast cancer cases and 1,518 controls, and their association with breast cancer risk, tumour characteristics and survival were assessed using unconditional logistic regression models, Cox proportional hazard models and haplotype analysis.

Results

The single tagSNP analysis did not reveal association evidence for breast cancer risk, tumour characteristics, or survival. A multi-locus analysis of five adjacent tagSNPs suggested a region in ESR1 (between rs3003925 and rs2144025) for association with breast cancer risk (p = 0.001), but the result did not withstand adjustment for multiple comparisons (p = 0.086). A similar region was also implicated by haplotype analyses, but its significance needs to be verified by follow-up analysis.

Conclusion

Our results do not support a strong association between common variants in the ESR1 and EGF genes and breast cancer risk, tumour characteristics or survival.
Appendix
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Metadata
Title
ESR1 and EGFgenetic variation in relation to breast cancer risk and survival
Authors
Kristjana Einarsdóttir
Hatef Darabi
Yi Li
Yen Ling Low
Yu Qing Li
Carine Bonnard
Arvid Sjölander
Kamila Czene
Sara Wedrén
Edison T Liu
Per Hall
Keith Humphreys
Jianjun Liu
Publication date
01-02-2008
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 1/2008
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr1861

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