No evidence that GATA3 rs570613 SNP modifies breast cancer risk

Johnatty, Sharon; Couch, Fergus; Fredericksen, Zachary; Tarrell, Robert; Spurdle, Amanda; Beesley, Jonathan; Chen, Xiaoqing; Gschwantler-Kaulich, Daphne; Singer, Christian; Fuerhauser, Christine; Fink-Retter, Anneliese; Domchek, Susan; Nathanson, Katherine; Pankratz, Shane; Lindor, Noralane; Godwin, Andrew; Caligo, Maria; Hopper, John; Southey, Melissa; Giles, Graham; Justenhoven, Christina; Brauch, Hiltrud; Hamann, Ute; Ko, Yon-Dschun; Heikkinen, T.; Aaltonen, Kirsimari; Aittomäki, Kristiina; Blomgvist, C.; Nevanlinna, Heli; Hall, Per; Czene, Kamila; Liu, Jianjun; Peock, Susan; Cook, Jackie; Platte, Radka; Evans, Gareth; Lalloo, Fiona; Eeles, Rosalind; Pichert, Gabriella; Eccles, Diana; Davidson, Rosemarie; Cole, Trevor; Cook, Margaret; Douglas, Fiona; Chu, Chengbin; Paterson, Joan; Hodgson, Shirley; Hogervorst, Frans; Rookus, Matti; Seynaeve, Caroline; Wijnen, Juul; Vreeswijk, Maaike; Ligtenberg, Marjolijn; van der Luijt, Rob; van Os, Theo; Gille, Hans; Blok, Marinus; Issacs, Claudine; Humphreys, Manjeet; McGuffog, Lesley; Healey, Sue; Sinilnikova, Olga; Antoniou, Antonis; Easton, Douglas; Chenevix-Trench, Georgia

doi:10.1007/s10549-008-0257-1

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.

Additional Metadata
Keywords	BRCA1 and BRCA2, Breast cancer, GATA3, Polymorphism, Risk
Persistent URL	doi.org/10.1007/s10549-008-0257-1, hdl.handle.net/1765/16891
Journal	Breast Cancer Research and Treatment
Organisation	Erasmus MC: University Medical Center Rotterdam
Citation APA Style AAA Style APA Style Cell Style Chicago Style Harvard Style IEEE Style MLA Style Nature Style Vancouver Style American-Institute-of-Physics Style Council-of-Science-Editors Style BibTex Format Endnote Format RIS Format CSL Format DOIs only Format	Johnatty, S., Couch, F., Fredericksen, Z., Tarrell, R., Spurdle, A., Beesley, J., … Chenevix-Trench, G. (2009). No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Breast Cancer Research and Treatment, 117(2), 371–379. doi:10.1007/s10549-008-0257-1

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No evidence that GATA3 rs570613 SNP modifies breast cancer risk

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No evidence that GATA3 rs570613 SNP modifies breast cancer risk

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