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 Aittomäki; Carl Blomqvist; Heli Nevanlinna; Per Hall; Kamila Czene; Jianjun Liu; Susan Peock; Margaret Cook; Radka Platte; 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; Neva Haites; kConFab Investigators; AOCS Study Group; Swedish Breast Cancer Study, Sweden (SWE-BRCA); HEBON; Brest Cancer Association Consortium; Consortium of Investigators of Modifiers of BRCA1/245

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 Aittomäki, Carl Blomqvist, Heli Nevanlinna, Per Hall, Kamila Czene, Jianjun Liu, Susan Peock, Margaret Cook, Radka Platte, 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, Neva Haites, kConFab Investigators, AOCS Study Group, Swedish Breast Cancer Study, Sweden (SWE-BRCA), HEBON, Brest Cancer Association Consortium, Consortium of Investigators of Modifiers of BRCA1/245

School of Medicine, Medical Sciences & Nutrition

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

8 Citations (Scopus)

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 (OR(per-allele) = 1.00, 95% CI 0.94-1.05), 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.

Original language	English
Pages (from-to)	371-379
Number of pages	9
Journal	Breast Cancer Research and Treatment
Volume	117
Issue number	2
Early online date	11 Dec 2008
DOIs	https://doi.org/10.1007/s10549-008-0257-1
Publication status	Published - Sept 2009

Keywords

breast neoplasms
female
GATA3 transcription factor
genes, BRCA1
genes, BRCA2
genetic predisposition to disease
genotype
humans
linkage disequilibrium
mutation
polymorphism, single nucleotide
risk factors
GATA3
breast cancer
polymorphism
BRCA1 and BRCA2
risk

UN SDGs

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

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10.1007/s10549-008-0257-1

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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., ... Consortium of Investigators of Modifiers of BRCA1/245 (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

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, Aittomäki, K, Blomqvist, C, Nevanlinna, H, Hall, P, Czene, K, Liu, J, Peock, S, Cook, M, Platte, R, Evans, G, 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, Haites, N, kConFab Investigators, AOCS Study Group, Swedish Breast Cancer Study, Sweden (SWE-BRCA), HEBON, Brest Cancer Association Consortium & Consortium of Investigators of Modifiers of BRCA1/245 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

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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 (OR(per-allele) = 1.00, 95% CI 0.94-1.05), 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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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 Aittom{\"a}ki 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 Gareth Evans 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 Neva Haites and {kConFab Investigators} and {AOCS Study Group} and {Swedish Breast Cancer Study, Sweden (SWE-BRCA)} and HEBON and {Brest Cancer Association Consortium} and {Consortium of Investigators of Modifiers of BRCA1/245}",

year = "2009",

month = sep,

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

language = "English",

volume = "117",

pages = "371--379",

journal = "Breast Cancer Research and Treatment",

issn = "0167-6806",

publisher = "Springer New York",

number = "2",

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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 - Aittomäki, 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, 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 - Haites, Neva

AU - kConFab Investigators

AU - AOCS Study Group

AU - Swedish Breast Cancer Study, Sweden (SWE-BRCA)

AU - HEBON

AU - Brest Cancer Association Consortium

AU - Consortium of Investigators of Modifiers of BRCA1/245

PY - 2009/9

Y1 - 2009/9

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 (OR(per-allele) = 1.00, 95% CI 0.94-1.05), 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.

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 (OR(per-allele) = 1.00, 95% CI 0.94-1.05), 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.

KW - breast neoplasms

KW - female

KW - GATA3 transcription factor

KW - genes, BRCA1

KW - genes, BRCA2

KW - genetic predisposition to disease

KW - genotype

KW - humans

KW - linkage disequilibrium

KW - mutation

KW - polymorphism, single nucleotide

KW - risk factors

KW - GATA3

KW - breast cancer

KW - polymorphism

KW - BRCA1 and BRCA2

KW - risk

U2 - 10.1007/s10549-008-0257-1

DO - 10.1007/s10549-008-0257-1

M3 - Article

C2 - 19082709

SN - 0167-6806

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

Keywords

UN SDGs

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