Association of ESR1 gene tagging SNPs with breast cancer risk

Alison M. Dunning, Catherine S. Healey, Caroline Baynes, Ana Teresa Maia, Serena Scollen, Ana Vega, Raquel Rodríguez, Nuno L. Barbosa-Morais, Bruce A.J. Ponder, Yen Ling Low, Sheila Bingham, Christopher A. Haiman, Loic Le Marchand, Annegien Broeks, Marjanka K. Schmidt, John Hopper, Melissa Southey, Matthias W. Beckmann, Peter A. Fasching, Julian PetoNichola Johnson, Stig E. Bojesen, Børge Nordestgaard, Roger L. Milne, Javier Benitez, Ute Hamann, Yon Ko, Rita K. Schmutzler, Barbara Burwinkel, Peter Schürmann, Thilo Dörk, Tuomas Heikkinen, Heli Nevanlinna, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli Matti Kosma, Xiaoqing Chen, Amanda Spurdle, Jenny Change-Claude, Dieter Flesch-Janys, Fergus J. Couch, Janet E. Olson, Gianluca Severi, Laura Baglietto, Anne Lise Børresen-Dale, Vessela Kristensen, David J. Hunter, Susan E. Hankinson, Peter Devilee, Maaike Vreeswijk, Jolanta Lissowska, Louise Brinton, Jianjun Liu, Per Hall, Daehee Kang, Keun Young Yoo, Chen Yang Shen, Jyh Cherng Yu, Hoda Anton-Culver, Argyrios Ziogoas, Alice Sigurdson, Jeff Struewing, Douglas F. Easton, Montserrat Garcia-Closas, Manjeet K. Humphreys, Jonathan Morrison, Paul D.P. Pharoah, Karen A. Pooley, Georgia Chenevix-Trench

Research output: Contribution to journalArticlepeer-review

74 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1131-1139
Number of pages9
JournalHuman molecular genetics
Issue number6
StatePublished - 2009

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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