No evidence that GATA3 rs570613 SNP modifies breast cancer risk

Sharon E. Johnatty; Fergus J. Couch; Zachary Fredericksen; Robert Tarrell; Amanda B. Spurdle; Jonathan Beesley; Xiaoqing Chen; Daphne Gschwantler-Kaulich; Christian F. Singer; Christine Fuerhauser; Anneliese Fink-Retter; Susan M. Domchek; Katherine L. Nathanson; Vernon S. Pankratz; Noralane M. Lindor; Andrew K. Godwin; Maria A. Caligo; John Hopper; Melissa C. Southey; Graham G. Giles; Christina Justenhoven; Hiltrud Brauch; Ute Hamann; Yon-Dschun Ko; Tuomas Heikkinen; Kirsimari Aaltonen; Kristiina Aittomaki; Carl Blomqvist; Heli Nevanlinna; Per Hall; Kamila Czene; Jianjun Liu; Susan Peock; Margaret Cook; Radka Platte; D. Gareth Evans; Fiona Lalloo; Rosalind Eeles; Gabriella Pichert; Diana Eccles; Rosemarie Davidson; Trevor Cole; Jackie Cook; Fiona Douglas; Carol Chu; Shirley Hodgson; Joan Paterson; Frans B. L. Hogervorst; Matti A. Rookus; Caroline Seynaeve; Juul Wijnen; Maaike Vreeswijk; Marjolijn Ligtenberg; Rob B. van der Luijt; Theo A. M. van Os; Hans J. P. Gille; Marinus J. Blok; Claudine Issacs; Manjeet K. Humphreys; Lesley McGuffog; Sue Healey; Olga Sinilnikova; Antonis C. Antoniou; Douglas F. Easton; Georgia Chenevix-Trench

doi:10.1007/s10549-008-0257-1

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

Sharon E. Johnatty, Fergus J. Couch, Zachary Fredericksen, Robert Tarrell, Amanda B. Spurdle, Jonathan Beesley, Xiaoqing Chen, Daphne Gschwantler-Kaulich, Christian F. Singer, Christine Fuerhauser, Anneliese Fink-Retter, Susan M. Domchek, Katherine L. Nathanson, Vernon S. Pankratz, Noralane M. Lindor, Andrew K. Godwin, Maria A. Caligo, John Hopper, Melissa C. Southey, Graham G. GilesChristina Justenhoven, Hiltrud Brauch, Ute Hamann, Yon-Dschun Ko, Tuomas Heikkinen, Kirsimari Aaltonen, Kristiina Aittomaki, Carl Blomqvist, Heli Nevanlinna, Per Hall, Kamila Czene, Jianjun Liu, Susan Peock, Margaret Cook, Radka Platte, D. Gareth Evans, Fiona Lalloo, Rosalind Eeles, Gabriella Pichert, Diana Eccles, Rosemarie Davidson, Trevor Cole, Jackie Cook, Fiona Douglas, Carol Chu, Shirley Hodgson, Joan Paterson, Frans B. L. Hogervorst, Matti A. Rookus, Caroline Seynaeve, Juul Wijnen, Maaike Vreeswijk, Marjolijn Ligtenberg, Rob B. van der Luijt, Theo A. M. van Os, Hans J. P. Gille, Marinus J. Blok, Claudine Issacs, Manjeet K. Humphreys, Lesley McGuffog, Sue Healey, Olga Sinilnikova, Antonis C. Antoniou, Douglas F. Easton, Georgia Chenevix-Trench

Research output: Contribution to journal › Article › peer-review

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 (P (trend) = 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% CI 0.94-1.05), in ER negative BCAC cases (ORper-allele = 1.02, 95% CI 0.91-1.13), in BRCA1 mutation carriers RRper-allele = 0.99, 95% CI 0.90-1.09) or BRCA2 mutation carriers (RRper-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.

Original language	English
Pages (from-to)	371-379
Journal	Breast Cancer Research and Treatment
Volume	117
Issue number	2
DOIs	https://doi.org/10.1007/s10549-008-0257-1
Publication status	Published - 2009
Externally published	Yes

Subject classification (UKÄ)

Cancer and Oncology

Free keywords

BRCA1 and BRCA2
Polymorphism
GATA3
Breast cancer
Risk

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1007/s10549-008-0257-1

Cite this

Johnatty, S. E., Couch, F. J., Fredericksen, Z., Tarrell, R., Spurdle, A. B., Beesley, J., Chen, X., Gschwantler-Kaulich, D., Singer, C. F., Fuerhauser, C., Fink-Retter, A., Domchek, S. M., Nathanson, K. L., Pankratz, V. S., Lindor, N. M., Godwin, A. K., Caligo, M. A., Hopper, J., Southey, M. C., ... Chenevix-Trench, G. (2009). No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Breast Cancer Research and Treatment, 117(2), 371-379. https://doi.org/10.1007/s10549-008-0257-1

@article{c95284c76c834ab3945a94cef1b8e852,

title = "No evidence that GATA3 rs570613 SNP modifies breast cancer risk",

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 (P (trend) = 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% CI 0.94-1.05), in ER negative BCAC cases (ORper-allele = 1.02, 95% CI 0.91-1.13), in BRCA1 mutation carriers RRper-allele = 0.99, 95% CI 0.90-1.09) or BRCA2 mutation carriers (RRper-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.",

keywords = "BRCA1 and BRCA2, Polymorphism, GATA3, Breast cancer, Risk",

author = "Johnatty, {Sharon E.} and Couch, {Fergus J.} and Zachary Fredericksen and Robert Tarrell and Spurdle, {Amanda B.} and Jonathan Beesley and Xiaoqing Chen and Daphne Gschwantler-Kaulich and Singer, {Christian F.} and Christine Fuerhauser and Anneliese Fink-Retter and Domchek, {Susan M.} and Nathanson, {Katherine L.} and Pankratz, {Vernon S.} and Lindor, {Noralane M.} and Godwin, {Andrew K.} and Caligo, {Maria A.} and John Hopper and Southey, {Melissa C.} and Giles, {Graham G.} and Christina Justenhoven and Hiltrud Brauch and Ute Hamann and Yon-Dschun Ko and Tuomas Heikkinen and Kirsimari Aaltonen and Kristiina Aittomaki and Carl Blomqvist and Heli Nevanlinna and Per Hall and Kamila Czene and Jianjun Liu and Susan Peock and Margaret Cook and Radka Platte and Evans, {D. Gareth} and Fiona Lalloo and Rosalind Eeles and Gabriella Pichert and Diana Eccles and Rosemarie Davidson and Trevor Cole and Jackie Cook and Fiona Douglas and Carol Chu and Shirley Hodgson and Joan Paterson and Hogervorst, {Frans B. L.} and Rookus, {Matti A.} and Caroline Seynaeve and Juul Wijnen and Maaike Vreeswijk and Marjolijn Ligtenberg and {van der Luijt}, {Rob B.} and {van Os}, {Theo A. M.} and Gille, {Hans J. P.} and Blok, {Marinus J.} and Claudine Issacs and Humphreys, {Manjeet K.} and Lesley McGuffog and Sue Healey and Olga Sinilnikova and Antoniou, {Antonis C.} and Easton, {Douglas F.} and Georgia Chenevix-Trench",

year = "2009",

doi = "10.1007/s10549-008-0257-1",

language = "English",

volume = "117",

pages = "371--379",

journal = "Breast Cancer Research and Treatment",

issn = "1573-7217",

publisher = "Springer",

number = "2",

}

Johnatty, SE, Couch, FJ, Fredericksen, Z, Tarrell, R, Spurdle, AB, Beesley, J, Chen, X, Gschwantler-Kaulich, D, Singer, CF, Fuerhauser, C, Fink-Retter, A, Domchek, SM, Nathanson, KL, Pankratz, VS, Lindor, NM, Godwin, AK, Caligo, MA, Hopper, J, Southey, MC, Giles, GG, Justenhoven, C, Brauch, H, Hamann, U, Ko, Y-D, Heikkinen, T, Aaltonen, K, Aittomaki, K, Blomqvist, C, Nevanlinna, H, Hall, P, Czene, K, Liu, J, Peock, S, Cook, M, Platte, R, Evans, DG, Lalloo, F, Eeles, R, Pichert, G, Eccles, D, Davidson, R, Cole, T, Cook, J, Douglas, F, Chu, C, Hodgson, S, Paterson, J, Hogervorst, FBL, Rookus, MA, Seynaeve, C, Wijnen, J, Vreeswijk, M, Ligtenberg, M, van der Luijt, RB, van Os, TAM, Gille, HJP, Blok, MJ, Issacs, C, Humphreys, MK, McGuffog, L, Healey, S, Sinilnikova, O, Antoniou, AC, Easton, DF & Chenevix-Trench, G 2009, 'No evidence that GATA3 rs570613 SNP modifies breast cancer risk', Breast Cancer Research and Treatment, vol. 117, no. 2, pp. 371-379. https://doi.org/10.1007/s10549-008-0257-1

TY - JOUR

T1 - No evidence that GATA3 rs570613 SNP modifies breast cancer risk

AU - Johnatty, Sharon E.

AU - Couch, Fergus J.

AU - Fredericksen, Zachary

AU - Tarrell, Robert

AU - Spurdle, Amanda B.

AU - Beesley, Jonathan

AU - Chen, Xiaoqing

AU - Gschwantler-Kaulich, Daphne

AU - Singer, Christian F.

AU - Fuerhauser, Christine

AU - Fink-Retter, Anneliese

AU - Domchek, Susan M.

AU - Nathanson, Katherine L.

AU - Pankratz, Vernon S.

AU - Lindor, Noralane M.

AU - Godwin, Andrew K.

AU - Caligo, Maria A.

AU - Hopper, John

AU - Southey, Melissa C.

AU - Giles, Graham G.

AU - Justenhoven, Christina

AU - Brauch, Hiltrud

AU - Hamann, Ute

AU - Ko, Yon-Dschun

AU - Heikkinen, Tuomas

AU - Aaltonen, Kirsimari

AU - Aittomaki, Kristiina

AU - Blomqvist, Carl

AU - Nevanlinna, Heli

AU - Hall, Per

AU - Czene, Kamila

AU - Liu, Jianjun

AU - Peock, Susan

AU - Cook, Margaret

AU - Platte, Radka

AU - Evans, D. Gareth

AU - Lalloo, Fiona

AU - Eeles, Rosalind

AU - Pichert, Gabriella

AU - Eccles, Diana

AU - Davidson, Rosemarie

AU - Cole, Trevor

AU - Cook, Jackie

AU - Douglas, Fiona

AU - Chu, Carol

AU - Hodgson, Shirley

AU - Paterson, Joan

AU - Hogervorst, Frans B. L.

AU - Rookus, Matti A.

AU - Seynaeve, Caroline

AU - Wijnen, Juul

AU - Vreeswijk, Maaike

AU - Ligtenberg, Marjolijn

AU - van der Luijt, Rob B.

AU - van Os, Theo A. M.

AU - Gille, Hans J. P.

AU - Blok, Marinus J.

AU - Issacs, Claudine

AU - Humphreys, Manjeet K.

AU - McGuffog, Lesley

AU - Healey, Sue

AU - Sinilnikova, Olga

AU - Antoniou, Antonis C.

AU - Easton, Douglas F.

AU - Chenevix-Trench, Georgia

PY - 2009

Y1 - 2009

N2 - 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 (P (trend) = 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% CI 0.94-1.05), in ER negative BCAC cases (ORper-allele = 1.02, 95% CI 0.91-1.13), in BRCA1 mutation carriers RRper-allele = 0.99, 95% CI 0.90-1.09) or BRCA2 mutation carriers (RRper-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.

AB - 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 (P (trend) = 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% CI 0.94-1.05), in ER negative BCAC cases (ORper-allele = 1.02, 95% CI 0.91-1.13), in BRCA1 mutation carriers RRper-allele = 0.99, 95% CI 0.90-1.09) or BRCA2 mutation carriers (RRper-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.

KW - BRCA1 and BRCA2

KW - Polymorphism

KW - GATA3

KW - Breast cancer

KW - Risk

U2 - 10.1007/s10549-008-0257-1

DO - 10.1007/s10549-008-0257-1

M3 - Article

C2 - 19082709

SN - 1573-7217

VL - 117

SP - 371

EP - 379

JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

IS - 2

ER -

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

Abstract

Subject classification (UKÄ)

Free keywords

UN SDGs

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