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No evidence that GATA3 rs570613 SNP modifies breast cancer risk

No evidence that GATA3 rs570613 SNP modifies breast cancer risk
No evidence that GATA3 rs570613 SNP modifies breast cancer risk
GATA-binding protein 3 (GATA3) is a transcription factor that is crucial to mammary gland morphogenesis and differentiation of progenitor cells, and has been suggested to have a tumor suppressor function. The rs570613 single nucleotide polymorphism (SNP) in intron 4 of GATA3 was previously found to be associated with a reduction in breast cancer risk in the Cancer Genetic Markers of Susceptibility project and in pooled analysis of two case-control studies from Norway and Poland (Ptrend = 0.004), with some evidence for a stronger association with estrogen receptor (ER) negative tumours [Garcia-Closas M et al. (2007) Cancer Epidemiol Biomarkers Prev 16:2269–2275]. We genotyped GATA3 rs570613 in 6,388 cases and 4,995 controls from the Breast Cancer Association Consortium (BCAC) and 5,617 BRCA1 and BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). We found no association between this SNP and breast cancer risk in BCAC cases overall (ORper-allele = 1.00, 95% CI0.94-1.05), in ER negative BCAC cases (OR(per-allele) = 1.02, 95% CI 0.91-1.13), in BRCA1 mutation carriers RR(per-allele) = 0.99, 95% CI 0.90-1.09) or BRCA2 mutation carriers (RR(per-allele) = 0.93, 95% CI 0.80-1.07). We conclude that there is no evidence that either GATA3 rs570613, or any variant in strong linkage disequilibrium with it, is associated with breast cancer risk in women.
GATA3, breast cancer, polymorphism, BRCA1 and BRCA2, risk
0167-6806
371-379
Johnatty, Sharon E.
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Couch, Fergus J.
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Fredericksen, Zachary
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Tarrell, Robert
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Spurdle, Amanda B.
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Beesley, Jonathan
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Chen, Xiaoqing
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Gschwantler-Kaulich, Daphne
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Singer, Christian F.
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Fuerhauser, Christine
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Fink-Retter, Anneliese
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Domchek, Susan M.
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Nathanson, Katherine L.
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Hopper, John
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Giles, Graham G.
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Justenhoven, Christina
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Ko, Yon-Dschun
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Heikkinen, Tuomas
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Aaltonen, Kirsimari
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Aittomaki, Kristiina
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Blomqvist, Carl
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Nevanlinna, Heli
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Hall, Per
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Czene, Kamila
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Liu, Jianjun
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Peock, Susan
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Cook, Margaret
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Platte, Radka
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Evans, D. Gareth
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Lalloo, Fiona
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Eeles, Rosalind
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Pichert, Gabriella
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Eccles, Diana
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Davidson, Rosemarie
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Cole, Trevor
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Cook, Jackie
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Douglas, Fiona
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Chu, Carol
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Hodgson, Shirley
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Paterson, Joan
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Hogervorst, Frans B. L
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Rookus, Matti A.
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Seynaeve, Caroline
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KConFab Investigators
Johnatty, Sharon E.
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Couch, Fergus J.
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Fredericksen, Zachary
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Tarrell, Robert
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Spurdle, Amanda B.
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Beesley, Jonathan
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Chen, Xiaoqing
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Gschwantler-Kaulich, Daphne
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Singer, Christian F.
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Fuerhauser, Christine
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Fink-Retter, Anneliese
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Domchek, Susan M.
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Nathanson, Katherine L.
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Pankratz, Vernon S.
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Lindor, Noralane M.
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Godwin, Andrew K.
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Caligo, Maria A.
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Hopper, John
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Southey, Melissa C.
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Giles, Graham G.
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Justenhoven, Christina
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Brauch, Hiltrud
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Hamann, Ute
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Ko, Yon-Dschun
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Heikkinen, Tuomas
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Aaltonen, Kirsimari
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Aittomaki, Kristiina
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Blomqvist, Carl
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Nevanlinna, Heli
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Hall, Per
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Czene, Kamila
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Liu, Jianjun
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Peock, Susan
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Cook, Margaret
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Platte, Radka
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Evans, D. Gareth
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Lalloo, Fiona
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Eeles, Rosalind
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Pichert, Gabriella
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Eccles, Diana
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Davidson, Rosemarie
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Cole, Trevor
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Cook, Jackie
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Douglas, Fiona
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Chu, Carol
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Hodgson, Shirley
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Paterson, Joan
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Hogervorst, Frans B. L
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Rookus, Matti A.
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Seynaeve, Caroline
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Johnatty, Sharon E., Couch, Fergus J., Fredericksen, Zachary, Tarrell, Robert, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Gschwantler-Kaulich, Daphne, Singer, Christian F., Fuerhauser, Christine, Fink-Retter, Anneliese, Domchek, Susan M., Nathanson, Katherine L., Pankratz, Vernon S., Lindor, Noralane M., Godwin, Andrew K., Caligo, Maria A., Hopper, John, Southey, Melissa C., Giles, Graham G., Justenhoven, Christina, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Heikkinen, Tuomas, Aaltonen, Kirsimari, Aittomaki, Kristiina, Blomqvist, Carl, Nevanlinna, Heli, Hall, Per, Czene, Kamila, Liu, Jianjun, Peock, Susan, Cook, Margaret, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Rosalind, Pichert, Gabriella, Eccles, Diana, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Douglas, Fiona, Chu, Carol, Hodgson, Shirley, Paterson, Joan, Hogervorst, Frans B. L, Rookus, Matti A. and Seynaeve, Caroline , KConFab Investigators (2009) No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Breast Cancer Research and Treatment, 117 (2), 371-379. (doi:10.1007/s10549-008-0257-1). (Submitted)

Record type: Article

Abstract

GATA-binding protein 3 (GATA3) is a transcription factor that is crucial to mammary gland morphogenesis and differentiation of progenitor cells, and has been suggested to have a tumor suppressor function. The rs570613 single nucleotide polymorphism (SNP) in intron 4 of GATA3 was previously found to be associated with a reduction in breast cancer risk in the Cancer Genetic Markers of Susceptibility project and in pooled analysis of two case-control studies from Norway and Poland (Ptrend = 0.004), with some evidence for a stronger association with estrogen receptor (ER) negative tumours [Garcia-Closas M et al. (2007) Cancer Epidemiol Biomarkers Prev 16:2269–2275]. We genotyped GATA3 rs570613 in 6,388 cases and 4,995 controls from the Breast Cancer Association Consortium (BCAC) and 5,617 BRCA1 and BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). We found no association between this SNP and breast cancer risk in BCAC cases overall (ORper-allele = 1.00, 95% CI0.94-1.05), in ER negative BCAC cases (OR(per-allele) = 1.02, 95% CI 0.91-1.13), in BRCA1 mutation carriers RR(per-allele) = 0.99, 95% CI 0.90-1.09) or BRCA2 mutation carriers (RR(per-allele) = 0.93, 95% CI 0.80-1.07). We conclude that there is no evidence that either GATA3 rs570613, or any variant in strong linkage disequilibrium with it, is associated with breast cancer risk in women.

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More information

Submitted date: September 2009
Keywords: GATA3, breast cancer, polymorphism, BRCA1 and BRCA2, risk

Identifiers

Local EPrints ID: 69928
URI: http://eprints.soton.ac.uk/id/eprint/69928
ISSN: 0167-6806
PURE UUID: 31db0718-7bb8-450a-a8e1-845d9ffc6a9e
ORCID for Diana Eccles: ORCID iD orcid.org/0000-0002-9935-3169

Catalogue record

Date deposited: 11 Dec 2009
Last modified: 14 Mar 2024 02:34

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Contributors

Author: Sharon E. Johnatty
Author: Fergus J. Couch
Author: Zachary Fredericksen
Author: Robert Tarrell
Author: Amanda B. Spurdle
Author: Jonathan Beesley
Author: Xiaoqing Chen
Author: Daphne Gschwantler-Kaulich
Author: Christian F. Singer
Author: Christine Fuerhauser
Author: Anneliese Fink-Retter
Author: Susan M. Domchek
Author: Katherine L. Nathanson
Author: Vernon S. Pankratz
Author: Noralane M. Lindor
Author: Andrew K. Godwin
Author: Maria A. Caligo
Author: John Hopper
Author: Melissa C. Southey
Author: Graham G. Giles
Author: Christina Justenhoven
Author: Hiltrud Brauch
Author: Ute Hamann
Author: Yon-Dschun Ko
Author: Tuomas Heikkinen
Author: Kirsimari Aaltonen
Author: Kristiina Aittomaki
Author: Carl Blomqvist
Author: Heli Nevanlinna
Author: Per Hall
Author: Kamila Czene
Author: Jianjun Liu
Author: Susan Peock
Author: Margaret Cook
Author: Radka Platte
Author: D. Gareth Evans
Author: Fiona Lalloo
Author: Rosalind Eeles
Author: Gabriella Pichert
Author: Diana Eccles ORCID iD
Author: Rosemarie Davidson
Author: Trevor Cole
Author: Jackie Cook
Author: Fiona Douglas
Author: Carol Chu
Author: Shirley Hodgson
Author: Joan Paterson
Author: Frans B. L Hogervorst
Author: Matti A. Rookus
Author: Caroline Seynaeve
Corporate Author: KConFab Investigators

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