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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; SEARCH; Low, Yen-Ling; Bingham, Sheila; EPIC; Haiman, Christopher A; Le Marchand, Loic; MEC; Broeks, Annegien; Schmidt, Marjanka K; ABCS; Hopper, John; Southey, Melissa; ABCFS; Beckmann, Matthias W; Fasching, Peter A; BBCC; Peto, Julian; Johnson, Nichola; BBCS ; Bojesen, Stig E; Nordestgaard, Børge; CGPS; Milne, Roger L; Benitez, Javier; CNIO-BCS; Hamann, Ute; Ko, Yon; GENICA; Schmutzler, Rita K; Burwinkel, Barbara; GC-HBOC; Schürmann, Peter; Dörk, Thilo; HABCS; Heikkinen, Tuomas; Nevanlinna, Heli; HEBCS; Lindblom, Annika; Margolin, Sara; KARBAC; Mannermaa, Arto; Kosma, Veli-Matti; KBCS; Chen, Xiaoqing; Spurdle, Amanda; kConFab and the AOCS Management Group; Change-Claude, Jenny; Flesch-Janys, Dieter; MARIE; Couch, Fergus J; Olson, Janet E; for MCBCS; Severi, Gianluca; Baglietto, Laura; MCCS; Børresen-Dale, Anne-Lise; Kristensen, Vessela; NBCS; Hunter, David J; Hankinson, Susan E; NHS; Devilee, Peter; ORIGO; PBCS; SASBAC; SEBCS; TWBCS; UCIBCS; USRTS; BCAC.
In:
Human Molecular Genetics, Vol. 18, No. 6, 2009, p. 1131-9.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
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/ddn429APA
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/ddn429Vancouver
Dunning AM, Healey CS, Baynes C, Maia A-T, Scollen S, Vega A et al.
Association of ESR1 gene tagging SNPs with breast cancer risk.
Human Molecular Genetics. 2009;18(6):1131-9.
https://doi.org/10.1093/hmg/ddn429Author
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 ; SEARCH ; Low, Yen-Ling ; Bingham, Sheila ; EPIC ; Haiman, Christopher A ; Le Marchand, Loic ; MEC ; Broeks, Annegien ; Schmidt, Marjanka K ; ABCS ; Hopper, John ; Southey, Melissa ; ABCFS ; Beckmann, Matthias W ; Fasching, Peter A ; BBCC ; Peto, Julian ; Johnson, Nichola ; BBCS ; Bojesen, Stig E ; Nordestgaard, Børge ; CGPS ; Milne, Roger L ; Benitez, Javier ; CNIO-BCS ; Hamann, Ute ; Ko, Yon ; GENICA ; Schmutzler, Rita K ; Burwinkel, Barbara ; GC-HBOC ; Schürmann, Peter ; Dörk, Thilo ; HABCS ; Heikkinen, Tuomas ; Nevanlinna, Heli ; HEBCS ; Lindblom, Annika ; Margolin, Sara ; KARBAC ; Mannermaa, Arto ; Kosma, Veli-Matti ; KBCS ; Chen, Xiaoqing ; Spurdle, Amanda ; kConFab and the AOCS Management Group ; Change-Claude, Jenny ; Flesch-Janys, Dieter ; MARIE ; Couch, Fergus J ; Olson, Janet E ; for MCBCS ; Severi, Gianluca ; Baglietto, Laura ; MCCS ; Børresen-Dale, Anne-Lise ; Kristensen, Vessela ; NBCS ; Hunter, David J ; Hankinson, Susan E ; NHS ; Devilee, Peter ; ORIGO ; PBCS ; SASBAC ; SEBCS ; TWBCS ; UCIBCS ; USRTS ; BCAC. / Association of ESR1 gene tagging SNPs with breast cancer risk. In: Human Molecular Genetics. 2009 ; Vol. 18, No. 6. pp. 1131-9.
Bibtex
@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",
}
RIS
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
VL - 18
SP - 1131
EP - 1139
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 6
ER -
