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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. and Fuerhauser, Christine, et al. (2009) In Breast Cancer Research and Treatment 117(2). p.371-379
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... (More)
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. (Less)
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publication status
published
subject
keywords
BRCA1 and BRCA2, Polymorphism, GATA3, Breast cancer, Risk
in
Breast Cancer Research and Treatment
volume
117
issue
2
pages
371 - 379
publisher
Springer
external identifiers
  • wos:000269005500018
  • scopus:68949092457
ISSN
1573-7217
DOI
10.1007/s10549-008-0257-1
language
English
LU publication?
no
id
c95284c7-6c83-4ab3-945a-94cef1b8e852 (old id 1477389)
date added to LUP
2009-09-29 10:56:16
date last changed
2017-01-01 06:24:09
@article{c95284c7-6c83-4ab3-945a-94cef1b8e852,
  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       = {Johnatty, Sharon E. and Couch, Fergus J. and Fredericksen, Zachary and Tarrell, Robert and Spurdle, Amanda B. and Beesley, Jonathan and Chen, Xiaoqing and Gschwantler-Kaulich, Daphne and Singer, Christian F. and Fuerhauser, Christine and Fink-Retter, Anneliese 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 Hopper, John and Southey, Melissa C. and Giles, Graham G. and Justenhoven, Christina and Brauch, Hiltrud and Hamann, Ute and Ko, Yon-Dschun and Heikkinen, Tuomas and Aaltonen, Kirsimari and Aittomaki, Kristiina and Blomqvist, Carl and Nevanlinna, Heli and Hall, Per and Czene, Kamila and Liu, Jianjun and Peock, Susan and Cook, Margaret and Platte, Radka and Evans, D. Gareth and Lalloo, Fiona and Eeles, Rosalind and Pichert, Gabriella and Eccles, Diana and Davidson, Rosemarie and Cole, Trevor and Cook, Jackie and Douglas, Fiona and Chu, Carol and Hodgson, Shirley and Paterson, Joan and Hogervorst, Frans B. L. and Rookus, Matti A. and Seynaeve, Caroline and Wijnen, Juul and Vreeswijk, Maaike and Ligtenberg, Marjolijn and van der Luijt, Rob B. and van Os, Theo A. M. and Gille, Hans J. P. and Blok, Marinus J. and Issacs, Claudine and Humphreys, Manjeet K. and McGuffog, Lesley and Healey, Sue and Sinilnikova, Olga and Antoniou, Antonis C. and Easton, Douglas F. and Chenevix-Trench, Georgia},
  issn         = {1573-7217},
  keyword      = {BRCA1 and BRCA2,Polymorphism,GATA3,Breast cancer,Risk},
  language     = {eng},
  number       = {2},
  pages        = {371--379},
  publisher    = {Springer},
  series       = {Breast Cancer Research and Treatment},
  title        = {No evidence that GATA3 rs570613 SNP modifies breast cancer risk},
  url          = {http://dx.doi.org/10.1007/s10549-008-0257-1},
  volume       = {117},
  year         = {2009},
}