No evidence that GATA3 rs570613 SNP modifies breast cancer risk

SE Johnatty; FJ Couch; Z Fredericksen; R Tarrell; AB Spurdle; J Beesley; XQ Chen; D Gschwantler-Kaulich; CF Singer; C Fuerhauser; A Fink-Retter; SM Domchek; KL Nathanson; VS Pankratz; NM Lindor; AK Godwin; MA Caligo; J Hopper; MC Southey; GG Giles; C Justenhoven; H Brauch; U Hamann; YD Ko; T Heikkinen; K Aaltonen; K Aittomaki; C Blomqvist; H Nevanlinna; P Hall; K Czene; JJ Liu; S Peock; M Cook; R Platte; DG Evans; F Lalloo; R Eeles; G Pichert; D Eccles; R Davidson; T Cole; J Cook; F Douglas; C Chu; S Hodgson; J Paterson; FBL Hogervorst; MA Rookus; Caroline Seynaeve; J (Juul) van Wijnen; MP Vreeswijk; M Ligtenberg; RB van der Luijt; TAM van Os; HJP Gille; MJ Blok; C Issacs; MK Humphreys; L McGuffog; S Healey; O Sinilnikova; AC Antoniou; DF Easton; G Chenevix-Trench

doi:10.1007/s10549-008-0257-1

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

SE Johnatty, FJ Couch, Z Fredericksen, R Tarrell, AB Spurdle, J Beesley, XQ Chen, D Gschwantler-Kaulich, CF Singer, C Fuerhauser, A Fink-Retter, SM Domchek, KL Nathanson, VS Pankratz, NM Lindor, AK Godwin, MA Caligo, J Hopper, MC Southey, GG GilesC Justenhoven, H Brauch, U Hamann, YD Ko, T Heikkinen, K Aaltonen, K Aittomaki, C Blomqvist, H Nevanlinna, P Hall, K Czene, JJ Liu, S Peock, M Cook, R Platte, DG Evans, F Lalloo, R Eeles, G Pichert, D Eccles, R Davidson, T Cole, J Cook, F Douglas, C Chu, S Hodgson, J Paterson, FBL Hogervorst, MA Rookus, Caroline Seynaeve, J (Juul) van Wijnen, MP Vreeswijk, M Ligtenberg, RB van der Luijt, TAM van Os, HJP Gille, MJ Blok, C Issacs, MK Humphreys, L McGuffog, S Healey, O Sinilnikova, AC Antoniou, DF Easton, G Chenevix-Trench

Research output: Contribution to journal › Article › Academic › 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 (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	Undefined/Unknown
Pages (from-to)	371-379
Number of pages	9
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

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EMC MGC-02-96-01
EMC MM-03-86-01

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Access to Document

10.1007/s10549-008-0257-1

http://hdl.handle.net/1765/16891

Cite this

Johnatty, SE., Couch, FJ., Fredericksen, Z., Tarrell, R., Spurdle, AB., Beesley, J., Chen, XQ., 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., ... 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

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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 (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.",

author = "SE Johnatty and FJ Couch and Z Fredericksen and R Tarrell and AB Spurdle and J Beesley and XQ Chen and D Gschwantler-Kaulich and CF Singer and C Fuerhauser and A Fink-Retter and SM Domchek and KL Nathanson and VS Pankratz and NM Lindor and AK Godwin and MA Caligo and J Hopper and MC Southey and GG Giles and C Justenhoven and H Brauch and U Hamann and YD Ko and T Heikkinen and K Aaltonen and K Aittomaki and C Blomqvist and H Nevanlinna and P Hall and K Czene and JJ Liu and S Peock and M Cook and R Platte and DG Evans and F Lalloo and R Eeles and G Pichert and D Eccles and R Davidson and T Cole and J Cook and F Douglas and C Chu and S Hodgson and J Paterson and FBL Hogervorst and MA Rookus and Caroline Seynaeve and {van Wijnen}, {J (Juul)} and MP Vreeswijk and M Ligtenberg and {van der Luijt}, RB and {van Os}, TAM and HJP Gille and MJ Blok and C Issacs and MK Humphreys and L McGuffog and S Healey and O Sinilnikova and AC Antoniou and DF Easton and G Chenevix-Trench",

year = "2009",

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

language = "Undefined/Unknown",

volume = "117",

pages = "371--379",

journal = "Breast Cancer Research and Treatment",

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Johnatty, SE, Couch, FJ, Fredericksen, Z, Tarrell, R, Spurdle, AB, Beesley, J, Chen, XQ, 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, YD, Heikkinen, T, Aaltonen, K, Aittomaki, K, Blomqvist, C, Nevanlinna, H, Hall, P, Czene, K, Liu, JJ, 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, van Wijnen, J, Vreeswijk, MP, 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, SE

AU - Couch, FJ

AU - Fredericksen, Z

AU - Tarrell, R

AU - Spurdle, AB

AU - Beesley, J

AU - Chen, XQ

AU - Gschwantler-Kaulich, D

AU - Singer, CF

AU - Fuerhauser, C

AU - Fink-Retter, A

AU - Domchek, SM

AU - Nathanson, KL

AU - Pankratz, VS

AU - Lindor, NM

AU - Godwin, AK

AU - Caligo, MA

AU - Hopper, J

AU - Southey, MC

AU - Giles, GG

AU - Justenhoven, C

AU - Brauch, H

AU - Hamann, U

AU - Ko, YD

AU - Heikkinen, T

AU - Aaltonen, K

AU - Aittomaki, K

AU - Blomqvist, C

AU - Nevanlinna, H

AU - Hall, P

AU - Czene, K

AU - Liu, JJ

AU - Peock, S

AU - Cook, M

AU - Platte, R

AU - Evans, DG

AU - Lalloo, F

AU - Eeles, R

AU - Pichert, G

AU - Eccles, D

AU - Davidson, R

AU - Cole, T

AU - Cook, J

AU - Douglas, F

AU - Chu, C

AU - Hodgson, S

AU - Paterson, J

AU - Hogervorst, FBL

AU - Rookus, MA

AU - Seynaeve, Caroline

AU - van Wijnen, J (Juul)

AU - Vreeswijk, MP

AU - Ligtenberg, M

AU - van der Luijt, RB

AU - van Os, TAM

AU - Gille, HJP

AU - Blok, MJ

AU - Issacs, C

AU - Humphreys, MK

AU - McGuffog, L

AU - Healey, S

AU - Sinilnikova, O

AU - Antoniou, AC

AU - Easton, DF

AU - Chenevix-Trench, G

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.

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 -