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

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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

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

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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