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No evidence that GATA3 rs570613 SNP modifies breast cancer risk
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2009 (English)In: Breast Cancer Research and Treatment, ISSN 0167-6806, E-ISSN 1573-7217, Vol. 117, no 2, p. 371-379Article in journal (Refereed) Published
Abstract [en]

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. 

Place, publisher, year, edition, pages
Springer, 2009. Vol. 117, no 2, p. 371-379
Keywords [en]
BRCA1 and BRCA2, Breast cancer, GATA3, Polymorphism, Risk, estrogen receptor, transcription factor GATA 3, adult, allele, article, BRCA2 oncogene, cancer risk, cell differentiation, controlled study, female, GATA3 gene, gene linkage disequilibrium, genetic association, genetic marker, genotype, human, intron, major clinical study, mammary gland, morphogenesis, Norway, oncogene, Poland, priority journal, risk reduction, single nucleotide polymorphism, stem cell, Breast Neoplasms, GATA3 Transcription Factor, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Humans, Linkage Disequilibrium, Mutation, Polymorphism, Single Nucleotide, Risk Factors
National Category
Cancer and Oncology
Identifiers
URN: urn:nbn:se:hj:diva-39674DOI: 10.1007/s10549-008-0257-1ISI: 000269005500018PubMedID: 19082709Scopus ID: 2-s2.0-68949092457OAI: oai:DiVA.org:hj-39674DiVA, id: diva2:1212044
Note

The Swedish BRCA1 and BRCA2 study (SWE-BRCA) collaborators are Per Karlsson, Margareta Nordling, Annika Bergman, and Zakaria Einbeigi, Gothenburg, Sahlgrenska University Hospital; Marie Stenmark-Askmalm and Sigrun Liedgren, Linkoping University Hospital; Ake Borg, Niklas Loman, Hakan Olsson, Ulf Kristoffersson, Helena Jernstrom, and Katja Backenhorn, Lund University Hospital; Annika Lindblom, Brita Arver, Anna von Wachenfeldt, Annelie Liljegren, Gisela Barbany-Bustinza, and Johanna Rantala, Stockholm, Karolinska University Hospital; Henrik Gronberg, Eva-Lena Stattin, and Monica Emanuelsson, Umea University Hospital; Hans Bostrom, Richard Rosenquist Brandell, and Niklas Dahl, Uppsala University Hospital.

Available from: 2018-06-01 Created: 2018-06-01 Last updated: 2018-06-01Bibliographically approved

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