Please use this identifier to cite or link to this item: https://doi.org/10.1186/bcr1861
Title: ESR1 and EGF genetic variation in relation to breast cancer risk and survival
Authors: Einarsdóttir, K
Darabi, H
Li, Y
Low, Y.L 
Li, Y.Q
Bonnard, C
Sjölander, A
Czene, K
Wedrén, S
Liu, E.T 
Hall, P
Humphreys, K
Liu, J
Keywords: epidermal growth factor
ESR1 protein, human
estrogen receptor alpha
aged
article
breast tumor
female
genetics
genotype
haplotype
human
middle aged
risk factor
single nucleotide polymorphism
survival
Sweden
Aged
Breast Neoplasms
Epidermal Growth Factor
Estrogen Receptor alpha
Female
Genotype
Haplotypes
Humans
Middle Aged
Polymorphism, Single Nucleotide
Risk Factors
Survival Analysis
Sweden
Issue Date: 2008
Citation: Einarsdóttir, K, Darabi, H, Li, Y, Low, Y.L, Li, Y.Q, Bonnard, C, Sjölander, A, Czene, K, Wedrén, S, Liu, E.T, Hall, P, Humphreys, K, Liu, J (2008). ESR1 and EGF genetic variation in relation to breast cancer risk and survival. Breast Cancer Research 10 (1) : R15. ScholarBank@NUS Repository. https://doi.org/10.1186/bcr1861
Rights: Attribution 4.0 International
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 R2of 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. © 2008 Einarsdóttir et al.; licensee BioMed Central Ltd.
Source Title: Breast Cancer Research
URI: https://scholarbank.nus.edu.sg/handle/10635/183280
ISSN: 14655411
DOI: 10.1186/bcr1861
Rights: Attribution 4.0 International
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