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Oxford University Press (OUP), Human Molecular Genetics, 6(18), p. 1131-1139

DOI: 10.1093/hmg/ddn429

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Association of ESR1 gene tagging SNPs with breast cancer risk

Journal article published in 2009 by L. le Marchand, Alison M. Dunning, Catherine S. Healey, Caroline Baynes, Ana-Teresa Maia, Serena Scollen, Ana Vega, Raquel Rodríguez, Nuno L. Barbosa-Morais ORCID, Bruce A. J. Ponder, Yen-Ling Low, Sheila Bingham, Christopher A. Haiman, Loic Le Marchand, Loic Le Marchand and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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. © The Author 2009. Published by Oxford University Press. All rights reserved.