Journal article
Association of ESR1 gene tagging SNPs with breast cancer risk
AM Dunning, CS Healey, C Baynes, AT Maia, S Scollen, A Vega, R Rodríguez, NL Barbosa-Morais, BAJ Ponder, YL Low, S Bingham, CA Haiman, L Le Marchand, A Broeks, MK Schmidt, J Hopper, M Southey, MW Beckmann, PA Fasching, J Peto Show all
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2009
DOI: 10.1093/hmg/ddn429
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 = 0.0..
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Grants
Awarded by National Institutes of Health
Funding Acknowledgements
This work has been predominantly funded by Cancer Research-UKgrants: C490/A11021 and C20/A3084 for SEARCH, C1287/A7497 for BCAC.