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; SEARCH; Yen-Ling Low; Sheila Bingham; EPIC; Christopher A Haiman; Loic Le Marchand; MEC; Annegien Broeks; Marjanka K Schmidt; ABCS; John Hopper; Melissa Southey; ABCFS; Matthias W Beckmann; Peter A Fasching; BBCC; Julian Peto; Nichola Johnson; BBCS; Stig E Bojesen; Børge Nordestgaard; CGPS; Roger L Milne; Javier Benitez; CNIO-BCS; Ute Hamann; Yon Ko; GENICA; Rita K Schmutzler; Barbara Burwinkel; GC-HBOC; Peter Schürmann; Thilo Dörk; HABCS; Tuomas Heikkinen; Heli Nevanlinna; HEBCS; Annika Lindblom; Sara Margolin; KARBAC; Arto Mannermaa; Veli-Matti Kosma; KBCS; Xiaoqing Chen; Amanda Spurdle; kConFab and the AOCS Management Group; Jenny Change-Claude; Dieter Flesch-Janys; MARIE; Fergus J Couch; Janet E Olson; for MCBCS; Gianluca Severi; Laura Baglietto; MCCS; Anne-Lise Børresen-Dale; Vessela Kristensen; NBCS; David J Hunter; Susan E Hankinson; NHS; Peter Devilee; ORIGO; PBCS; SASBAC; SEBCS; TWBCS; UCIBCS; USRTS; BCAC

doi:10.1093/hmg/ddn429

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, SEARCH, Yen-Ling Low, Sheila Bingham, EPIC, Christopher A Haiman, Loic Le Marchand, MEC, Annegien Broeks, Marjanka K Schmidt, ABCS, John HopperMelissa Southey, ABCFS, Matthias W Beckmann, Peter A Fasching, BBCC, Julian Peto, Nichola Johnson, BBCS, Stig E Bojesen, Børge Nordestgaard, CGPS, Roger L Milne, Javier Benitez, CNIO-BCS, Ute Hamann, Yon Ko, GENICA, Rita K Schmutzler, Barbara Burwinkel, GC-HBOC, Peter Schürmann, Thilo Dörk, HABCS, Tuomas Heikkinen, Heli Nevanlinna, HEBCS, Annika Lindblom, Sara Margolin, KARBAC, Arto Mannermaa, Veli-Matti Kosma, KBCS, Xiaoqing Chen, Amanda Spurdle, kConFab and the AOCS Management Group, Jenny Change-Claude, Dieter Flesch-Janys, MARIE, Fergus J Couch, Janet E Olson, for MCBCS, Gianluca Severi, Laura Baglietto, MCCS, Anne-Lise Børresen-Dale, Vessela Kristensen, NBCS, David J Hunter, Susan E Hankinson, NHS, Peter Devilee, ORIGO, PBCS, SASBAC, SEBCS, TWBCS, UCIBCS, USRTS, BCAC

74 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 language	English
Journal	Human Molecular Genetics
Volume	18
Issue number	6
Pages (from-to)	1131-9
Number of pages	9
ISSN	0964-6906
DOIs	https://doi.org/10.1093/hmg/ddn429
Publication status	Published - 2009

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Dunning, A. M., Healey, C. S., Baynes, C., Maia, A.-T., Scollen, S., Vega, A., Rodríguez, R., Barbosa-Morais, N. L., Ponder, B. A. J., SEARCH, Low, Y.-L., Bingham, S., EPIC, Haiman, C. A., Le Marchand, L., MEC, Broeks, A., Schmidt, M. K., ABCS, ... BCAC (2009). Association of ESR1 gene tagging SNPs with breast cancer risk. Human Molecular Genetics, 18(6), 1131-9. https://doi.org/10.1093/hmg/ddn429

Dunning, AM, Healey, CS, Baynes, C, Maia, A-T, Scollen, S, Vega, A, Rodríguez, R, Barbosa-Morais, NL, Ponder, BAJ, SEARCH, Low, Y-L, Bingham, S, EPIC, Haiman, CA, Le Marchand, L, MEC, Broeks, A, Schmidt, MK, ABCS, Hopper, J, Southey, M, ABCFS, Beckmann, MW, Fasching, PA, BBCC, Peto, J, Johnson, N, BBCS, Bojesen, SE , Nordestgaard, B, CGPS, Milne, RL, Benitez, J, CNIO-BCS, Hamann, U, Ko, Y, GENICA, Schmutzler, RK, Burwinkel, B, GC-HBOC, Schürmann, P, Dörk, T, HABCS, Heikkinen, T, Nevanlinna, H, HEBCS, Lindblom, A, Margolin, S, KARBAC, Mannermaa, A, Kosma, V-M, KBCS, Chen, X, Spurdle, A, kConFab and the AOCS Management Group, Change-Claude, J, Flesch-Janys, D, MARIE, Couch, FJ, Olson, JE, for MCBCS, Severi, G, Baglietto, L, MCCS, Børresen-Dale, A-L, Kristensen, V, NBCS, Hunter, DJ, Hankinson, SE, NHS, Devilee, P, ORIGO, PBCS, SASBAC, SEBCS, TWBCS, UCIBCS, USRTS & BCAC 2009, 'Association of ESR1 gene tagging SNPs with breast cancer risk', Human Molecular Genetics, vol. 18, no. 6, pp. 1131-9. https://doi.org/10.1093/hmg/ddn429

@article{90a06510834f11df928f000ea68e967b,

title = "Association of ESR1 gene tagging SNPs with breast cancer risk",

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.",

author = "Dunning, {Alison M} and Healey, {Catherine S} and Caroline Baynes and Ana-Teresa Maia and Serena Scollen and Ana Vega and Raquel Rodr{\'i}guez and Barbosa-Morais, {Nuno L} and Ponder, {Bruce A J} and SEARCH and Yen-Ling Low and Sheila Bingham and EPIC and Haiman, {Christopher A} and {Le Marchand}, Loic and MEC and Annegien Broeks and Schmidt, {Marjanka K} and ABCS and John Hopper and Melissa Southey and ABCFS and Beckmann, {Matthias W} and Fasching, {Peter A} and BBCC and Julian Peto and Nichola Johnson and BBCS and Bojesen, {Stig E} and B{\o}rge Nordestgaard and CGPS and Milne, {Roger L} and Javier Benitez and CNIO-BCS and Ute Hamann and Yon Ko and GENICA and Schmutzler, {Rita K} and Barbara Burwinkel and GC-HBOC and Peter Sch{\"u}rmann and Thilo D{\"o}rk and HABCS and Tuomas Heikkinen and Heli Nevanlinna and HEBCS and Annika Lindblom and Sara Margolin and KARBAC and Arto Mannermaa and Veli-Matti Kosma and KBCS and Xiaoqing Chen and Amanda Spurdle and {kConFab and the AOCS Management Group} and Jenny Change-Claude and Dieter Flesch-Janys and MARIE and Couch, {Fergus J} and Olson, {Janet E} and {for MCBCS} and Gianluca Severi and Laura Baglietto and MCCS and Anne-Lise B{\o}rresen-Dale and Vessela Kristensen and NBCS and Hunter, {David J} and Hankinson, {Susan E} and NHS and Peter Devilee and ORIGO and PBCS and SASBAC and SEBCS and TWBCS and UCIBCS and USRTS and BCAC",

note = "Keywords: Breast Neoplasms; Estrogen Receptor alpha; Female; Genetic Predisposition to Disease; Haplotypes; Humans; Neoplasm Staging; Polymorphism, Single Nucleotide; RNA, Neoplasm",

year = "2009",

doi = "10.1093/hmg/ddn429",

language = "English",

volume = "18",

pages = "1131--9",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "6",

}

TY - JOUR

T1 - Association of ESR1 gene tagging SNPs with breast cancer risk

AU - Dunning, Alison M

AU - Healey, Catherine S

AU - Baynes, Caroline

AU - Maia, Ana-Teresa

AU - Scollen, Serena

AU - Vega, Ana

AU - Rodríguez, Raquel

AU - Barbosa-Morais, Nuno L

AU - Ponder, Bruce A J

AU - SEARCH

AU - Low, Yen-Ling

AU - Bingham, Sheila

AU - EPIC

AU - Haiman, Christopher A

AU - Le Marchand, Loic

AU - MEC

AU - Broeks, Annegien

AU - Schmidt, Marjanka K

AU - ABCS

AU - Hopper, John

AU - Southey, Melissa

AU - ABCFS

AU - Beckmann, Matthias W

AU - Fasching, Peter A

AU - BBCC

AU - Peto, Julian

AU - Johnson, Nichola

AU - BBCS

AU - Bojesen, Stig E

AU - Nordestgaard, Børge

AU - CGPS

AU - Milne, Roger L

AU - Benitez, Javier

AU - CNIO-BCS

AU - Hamann, Ute

AU - Ko, Yon

AU - GENICA

AU - Schmutzler, Rita K

AU - Burwinkel, Barbara

AU - GC-HBOC

AU - Schürmann, Peter

AU - Dörk, Thilo

AU - HABCS

AU - Heikkinen, Tuomas

AU - Nevanlinna, Heli

AU - HEBCS

AU - Lindblom, Annika

AU - Margolin, Sara

AU - KARBAC

AU - Mannermaa, Arto

AU - Kosma, Veli-Matti

AU - KBCS

AU - Chen, Xiaoqing

AU - Spurdle, Amanda

AU - kConFab and the AOCS Management Group

AU - Change-Claude, Jenny

AU - Flesch-Janys, Dieter

AU - MARIE

AU - Couch, Fergus J

AU - Olson, Janet E

AU - for MCBCS

AU - Severi, Gianluca

AU - Baglietto, Laura

AU - MCCS

AU - Børresen-Dale, Anne-Lise

AU - Kristensen, Vessela

AU - NBCS

AU - Hunter, David J

AU - Hankinson, Susan E

AU - NHS

AU - Devilee, Peter

AU - ORIGO

AU - PBCS

AU - SASBAC

AU - SEBCS

AU - TWBCS

AU - UCIBCS

AU - USRTS

AU - BCAC

N1 - Keywords: Breast Neoplasms; Estrogen Receptor alpha; Female; Genetic Predisposition to Disease; Haplotypes; Humans; Neoplasm Staging; Polymorphism, Single Nucleotide; RNA, Neoplasm

PY - 2009

Y1 - 2009

N2 - 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.

AB - 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.

U2 - 10.1093/hmg/ddn429

DO - 10.1093/hmg/ddn429

M3 - Journal article

C2 - 19126777

SN - 0964-6906

VL - 18

SP - 1131

EP - 1139

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 6

ER -

Association of ESR1 gene tagging SNPs with breast cancer risk

Abstract

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