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 & 36 others 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

Research output: Contribution to journalArticle

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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 languageEnglish
Pages (from-to)371-379
Number of pages9
JournalBreast Cancer Research and Treatment
Volume117
Issue number2
Early online date11 Dec 2008
DOIs
Publication statusPublished - Sep 2009

Fingerprint

Single Nucleotide Polymorphism
Carrier Proteins
Breast Neoplasms
Alleles
Estrogen Receptors
Neoplasms
Mutation
Linkage Disequilibrium
Poland
Human Mammary Glands
Norway
Genetic Predisposition to Disease
Tumor Biomarkers
Genetic Markers
Morphogenesis
Introns
Case-Control Studies
Transcription Factors
Stem Cells
Research Personnel

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

Cite this

Johnatty, S. E., Couch, F. J., Fredericksen, Z., Tarrell, R., Spurdle, A. B., Beesley, J., ... 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

No evidence that GATA3 rs570613 SNP modifies breast cancer risk. / 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; Aittomäki, Kristiina; Blomqvist, Carl; Nevanlinna, Heli; Hall, Per; Czene, Kamila; Liu, Jianjun; Peock, Susan; Cook, Margaret; Platte, Radka; Evans, 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; Haites, Neva; 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.

In: Breast Cancer Research and Treatment, Vol. 117, No. 2, 09.2009, p. 371-379.

Research output: Contribution to journalArticle

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
Johnatty SE, Couch FJ, Fredericksen Z, Tarrell R, Spurdle AB, Beesley J et al. No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Breast Cancer Research and Treatment. 2009 Sep;117(2):371-379. https://doi.org/10.1007/s10549-008-0257-1
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 ; Aittomäki, Kristiina ; Blomqvist, Carl ; Nevanlinna, Heli ; Hall, Per ; Czene, Kamila ; Liu, Jianjun ; Peock, Susan ; Cook, Margaret ; Platte, Radka ; Evans, 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 ; Haites, Neva ; 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. / No evidence that GATA3 rs570613 SNP modifies breast cancer risk. In: Breast Cancer Research and Treatment. 2009 ; Vol. 117, No. 2. pp. 371-379.
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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

VL - 117

SP - 371

EP - 379

JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

SN - 0167-6806

IS - 2

ER -