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, D. 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, Caroline Seynaeve, Juul Wijnen, Maaike Vreeswijk, Marjolijn Ligtenberg, Rob B. Van Der Luijt, Theo A.M. Van Os, Hans J.P. Gille, Marinus J. Blok, Claudine Issacs, Manjeet K. Humphreys, Lesley McGuffog, Sue Healey, Olga Sinilnikova, Antonis C. Antoniou, Douglas F. Easton, Georgia Chenevix-Trench

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


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 languageEnglish (US)
Pages (from-to)371-379
Number of pages9
JournalBreast Cancer Research and Treatment
Issue number2
StatePublished - Sep 2009


  • BRCA1 and BRCA2
  • Breast cancer
  • GATA3
  • Polymorphism
  • Risk

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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