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 journalArticle

68 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1131-1139
Number of pages9
JournalHuman Molecular Genetics
Volume18
Issue number6
DOIs
StatePublished - 2009

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Single Nucleotide Polymorphism
Breast Neoplasms
Introns
Genes
Alleles
Homozygote
Estrogen Receptors
Case-Control Studies
Odds Ratio
Confidence Intervals
Messenger RNA
Population
Neoplasms

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

Cite this

Dunning, A. M., Healey, C. S., Baynes, C., Maia, A. T., Scollen, S., Vega, A., ... Chenevix-Trench, G. (2009). Association of ESR1 gene tagging SNPs with breast cancer risk. Human Molecular Genetics, 18(6), 1131-1139. https://doi.org/10.1093/hmg/ddn429

Association of ESR1 gene tagging SNPs with breast cancer risk. / Dunning, Alison M.; Healey, Catherine S.; Baynes, Caroline; Maia, Ana Teresa; Scollen, Serena; Vega, Ana; Rodríguez, Raquel; Barbosa-Morais, Nuno L.; Ponder, Bruce A J; Low, Yen Ling; Bingham, Sheila; Haiman, Christopher A.; Le Marchand, Loic; Broeks, Annegien; Schmidt, Marjanka K.; Hopper, John; Southey, Melissa; Beckmann, Matthias W.; Fasching, Peter A.; Peto, Julian; Johnson, Nichola; Bojesen, Stig E.; Nordestgaard, Børge; Milne, Roger L.; Benitez, Javier; Hamann, Ute; Ko, Yon; Schmutzler, Rita K.; Burwinkel, Barbara; Schürmann, Peter; Dörk, Thilo; Heikkinen, Tuomas; Nevanlinna, Heli; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kosma, Veli Matti; Chen, Xiaoqing; Spurdle, Amanda; Change-Claude, Jenny; Flesch-Janys, Dieter; Couch, Fergus J; Olson, Janet E; Severi, Gianluca; Baglietto, Laura; Børresen-Dale, Anne Lise; Kristensen, Vessela; Hunter, David J.; Hankinson, Susan E.; Devilee, Peter; Vreeswijk, Maaike; Lissowska, Jolanta; Brinton, Louise; Liu, Jianjun; Hall, Per; Kang, Daehee; Yoo, Keun Young; Shen, Chen Yang; Yu, Jyh Cherng; Anton-Culver, Hoda; Ziogoas, Argyrios; Sigurdson, Alice; Struewing, Jeff; Easton, Douglas F.; Garcia-Closas, Montserrat; Humphreys, Manjeet K.; Morrison, Jonathan; Pharoah, Paul D P; Pooley, Karen A.; Chenevix-Trench, Georgia.

In: Human Molecular Genetics, Vol. 18, No. 6, 2009, p. 1131-1139.

Research output: Contribution to journalArticle

Dunning, AM, Healey, CS, Baynes, C, Maia, AT, Scollen, S, Vega, A, Rodríguez, R, Barbosa-Morais, NL, Ponder, BAJ, Low, YL, Bingham, S, Haiman, CA, Le Marchand, L, Broeks, A, Schmidt, MK, Hopper, J, Southey, M, Beckmann, MW, Fasching, PA, Peto, J, Johnson, N, Bojesen, SE, Nordestgaard, B, Milne, RL, Benitez, J, Hamann, U, Ko, Y, Schmutzler, RK, Burwinkel, B, Schürmann, P, Dörk, T, Heikkinen, T, Nevanlinna, H, Lindblom, A, Margolin, S, Mannermaa, A, Kosma, VM, Chen, X, Spurdle, A, Change-Claude, J, Flesch-Janys, D, Couch, FJ, Olson, JE, Severi, G, Baglietto, L, Børresen-Dale, AL, Kristensen, V, Hunter, DJ, Hankinson, SE, Devilee, P, Vreeswijk, M, Lissowska, J, Brinton, L, Liu, J, Hall, P, Kang, D, Yoo, KY, Shen, CY, Yu, JC, Anton-Culver, H, Ziogoas, A, Sigurdson, A, Struewing, J, Easton, DF, Garcia-Closas, M, Humphreys, MK, Morrison, J, Pharoah, PDP, Pooley, KA & Chenevix-Trench, G 2009, 'Association of ESR1 gene tagging SNPs with breast cancer risk', Human Molecular Genetics, vol. 18, no. 6, pp. 1131-1139. https://doi.org/10.1093/hmg/ddn429
Dunning AM, Healey CS, Baynes C, Maia AT, Scollen S, Vega A et al. Association of ESR1 gene tagging SNPs with breast cancer risk. Human Molecular Genetics. 2009;18(6):1131-1139. https://doi.org/10.1093/hmg/ddn429
Dunning, Alison M. ; Healey, Catherine S. ; Baynes, Caroline ; Maia, Ana Teresa ; Scollen, Serena ; Vega, Ana ; Rodríguez, Raquel ; Barbosa-Morais, Nuno L. ; Ponder, Bruce A J ; Low, Yen Ling ; Bingham, Sheila ; Haiman, Christopher A. ; Le Marchand, Loic ; Broeks, Annegien ; Schmidt, Marjanka K. ; Hopper, John ; Southey, Melissa ; Beckmann, Matthias W. ; Fasching, Peter A. ; Peto, Julian ; Johnson, Nichola ; Bojesen, Stig E. ; Nordestgaard, Børge ; Milne, Roger L. ; Benitez, Javier ; Hamann, Ute ; Ko, Yon ; Schmutzler, Rita K. ; Burwinkel, Barbara ; Schürmann, Peter ; Dörk, Thilo ; Heikkinen, Tuomas ; Nevanlinna, Heli ; Lindblom, Annika ; Margolin, Sara ; Mannermaa, Arto ; Kosma, Veli Matti ; Chen, Xiaoqing ; Spurdle, Amanda ; Change-Claude, Jenny ; Flesch-Janys, Dieter ; Couch, Fergus J ; Olson, Janet E ; Severi, Gianluca ; Baglietto, Laura ; Børresen-Dale, Anne Lise ; Kristensen, Vessela ; Hunter, David J. ; Hankinson, Susan E. ; Devilee, Peter ; Vreeswijk, Maaike ; Lissowska, Jolanta ; Brinton, Louise ; Liu, Jianjun ; Hall, Per ; Kang, Daehee ; Yoo, Keun Young ; Shen, Chen Yang ; Yu, Jyh Cherng ; Anton-Culver, Hoda ; Ziogoas, Argyrios ; Sigurdson, Alice ; Struewing, Jeff ; Easton, Douglas F. ; Garcia-Closas, Montserrat ; Humphreys, Manjeet K. ; Morrison, Jonathan ; Pharoah, Paul D P ; Pooley, Karen A. ; Chenevix-Trench, Georgia. / Association of ESR1 gene tagging SNPs with breast cancer risk. In: Human Molecular Genetics. 2009 ; Vol. 18, No. 6. pp. 1131-1139.
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AU - Baynes, Caroline

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AU - Vega, Ana

AU - Rodríguez, Raquel

AU - Barbosa-Morais, Nuno L.

AU - Ponder, Bruce A J

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AU - Bingham, Sheila

AU - Haiman, Christopher A.

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AU - Southey, Melissa

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AU - Fasching, Peter A.

AU - Peto, Julian

AU - Johnson, Nichola

AU - Bojesen, Stig E.

AU - Nordestgaard, Børge

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AU - Benitez, Javier

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AU - Kosma, Veli Matti

AU - Chen, Xiaoqing

AU - Spurdle, Amanda

AU - Change-Claude, Jenny

AU - Flesch-Janys, Dieter

AU - Couch, Fergus J

AU - Olson, Janet E

AU - Severi, Gianluca

AU - Baglietto, Laura

AU - Børresen-Dale, Anne Lise

AU - Kristensen, Vessela

AU - Hunter, David J.

AU - Hankinson, Susan E.

AU - Devilee, Peter

AU - Vreeswijk, Maaike

AU - Lissowska, Jolanta

AU - Brinton, Louise

AU - Liu, Jianjun

AU - Hall, Per

AU - Kang, Daehee

AU - Yoo, Keun Young

AU - Shen, Chen Yang

AU - Yu, Jyh Cherng

AU - Anton-Culver, Hoda

AU - Ziogoas, Argyrios

AU - Sigurdson, Alice

AU - Struewing, Jeff

AU - Easton, Douglas F.

AU - Garcia-Closas, Montserrat

AU - Humphreys, Manjeet K.

AU - Morrison, Jonathan

AU - Pharoah, Paul D P

AU - Pooley, Karen A.

AU - Chenevix-Trench, Georgia

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