TY - JOUR
T1 - No evidence that GATA3 rs570613 SNP modifies breast cancer risk
AU - Johnatty, Sharon E.
AU - Couch, Fergus J.
AU - Fredericksen, Zachary
AU - Tarrell, Robert
AU - Spurdle, Amanda B.
AU - Beesley, Jonathan
AU - Chen, Xiaoqing
AU - Gschwantler-Kaulich, Daphne
AU - Singer, Christian F.
AU - Fuerhauser, Christine
AU - Fink-Retter, Anneliese
AU - Domchek, Susan M.
AU - Nathanson, Katherine L.
AU - Pankratz, Vernon S.
AU - Lindor, Noralane M.
AU - Godwin, Andrew K.
AU - Caligo, Maria A.
AU - Hopper, John
AU - Southey, Melissa C.
AU - Giles, Graham G.
AU - Justenhoven, Christina
AU - Brauch, Hiltrud
AU - Hamann, Ute
AU - Ko, Yon Dschun
AU - Heikkinen, Tuomas
AU - Aaltonen, Kirsimari
AU - Aittomäki, Kristiina
AU - Blomqvist, Carl
AU - Nevanlinna, Heli
AU - Hall, Per
AU - Czene, Kamila
AU - Liu, Jianjun
AU - Peock, Susan
AU - Cook, Margaret
AU - Platte, Radka
AU - Gareth Evans, D.
AU - Lalloo, Fiona
AU - Eeles, Rosalind
AU - Pichert, Gabriella
AU - Eccles, Diana
AU - Davidson, Rosemarie
AU - Cole, Trevor
AU - Cook, Jackie
AU - Douglas, Fiona
AU - Chu, Carol
AU - Hodgson, Shirley
AU - Paterson, Joan
AU - Hogervorst, Frans B.L.
AU - Rookus, Matti A.
AU - Seynaeve, Caroline
AU - Wijnen, Juul
AU - Vreeswijk, Maaike
AU - Ligtenberg, Marjolijn
AU - Van Der Luijt, Rob B.
AU - Van Os, Theo A.M.
AU - Gille, Hans J.P.
AU - Blok, Marinus J.
AU - Issacs, Claudine
AU - Humphreys, Manjeet K.
AU - McGuffog, Lesley
AU - Healey, Sue
AU - Sinilnikova, Olga
AU - Antoniou, Antonis C.
AU - Easton, Douglas F.
AU - Chenevix-Trench, Georgia
N1 - Funding Information:
FJC, ZF and RT and the MAYO study were supported in part by U.S. National Institutes of Health grants CA122340 and CA128978 and an award from the Breast Cancer Research Foundation. kConFab is supported by grants from the National Breast Cancer Foundation, the National Health and Medical Research Council (NHMRC) and by the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. AOCS was funded by U.S. Army Medical Research and Materiel Command under DAMD17-01-1-0729, the Cancer Council Tasmania and Cancer Foundation of Western Australia (AOCS study). The ABCFS was supported by the National Health and Medical Research Council (NHMRC) of Australia (#145604), the U.S. National Institutes of Health (RO1 CA102740-01A2) and by the National Cancer Institute, National Institutes of Health under RFA # CA-95-011 through cooperative agreements with members of the Breast Cancer Family Registry (Breast CFR) and PIs ‘‘Cancer Care Ontario (UO1 CA69467)’’, ‘‘Columbia University (U01 CA69398)’’, ‘‘Fox Chase Cancer Center (U01 CA69631)’’, ‘‘Huntsman Cancer Institute (U01 CA69446)’’, ‘‘Northern California Cancer Center (U01 CA69417)’’, ‘‘University of Melbourne (U01 CA69638)’’. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of collaborating centers in the Breast CFR, nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the Breast CFR. The Australian Breast Cancer Family Study was initially supported by the National Health and Medical Research Council of Australia, the New South Wales Cancer Council, the Victorian Health Promotion Foundation. SWE-BRCA is supported by grants from the Swedish Cancer Society and Swedish County Council. The HEB-CS study has been financially supported by the Helsinki University Central Hospital Research Fund, Academy of Finland (110663), Finnish Cancer Society and the Sigrid Juselius Foundation; This work was supported in part by the Fox Chase Cancer Center Ovarian Cancer SPORE, P50 CA83638, and the Eileen Stein-Jacoby Fund. CIMBA data management’’ is funded by CR-UK. PBCS is supported by Fondazione Cassa di Risparmio. The GENICA study was
Funding Information:
Acknowledgments We wish to thank Claudine Isaacs for the samples from Georgetown; Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study (funded by NHMRC grants 145684, 288704 and 454508) for their contributions to this resourcekConFab; the AOCS Management Group (D. Bowtell, G. Chenevix-Trench, A. deFazio, D. Gertig, A. Green, P. Webb), all the clinical and scientific collaborators of AOCS (http://www. aocstudy.org/), the project staff, and collaborating institutions; Maggie Angelakos, Judi Maskiell and Gillian Dite (ABCFS); RN Hanna Jäntti for help with the patient data and the Finnish Cancer registry for the cancer data (HEBCS); Anne-Catherine Spiess and Georg Pfeiler (MUV); Betsy Bove, Mary Daly, John Malick, Beth Stearman, JoEllen Weaver (FCCC); Gisella Lombardi (PBCS); Beate Pesch, Volker Harth and Thomas Brüning for recruitment of GENICA study subjects and collection of epidemiological data.
Funding Information:
supported by the German Human Genome Project and funded by the Federal Ministry of Education and Research (BMBF) Germany grants 01KW9975/5, 01KW9976/8, 01KW9977/0 and 01KW0114. Genotyping analysis was supported by the Robert Bosch Foundation of Medical Research, Stuttgart, Germany. The HEBON study and Anouk Pijpe are funded by the Dutch Cancer Society grant NKI2004-3088, NKI 2007-3756. GCT, JLH, MS and PW are supported by the NHMRC. Antonis Antoniou, Lesley McGuffog, Margaret Cook, Susan Peock and EMBRACE are funded by Cancer Research–UK. We would also like to thank the 17,100 women who participated in these studies.
PY - 2009/9
Y1 - 2009/9
N2 - 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.
AB - 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.
KW - BRCA1 and BRCA2
KW - Breast cancer
KW - GATA3
KW - Polymorphism
KW - Risk
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U2 - 10.1007/s10549-008-0257-1
DO - 10.1007/s10549-008-0257-1
M3 - Article
C2 - 19082709
AN - SCOPUS:68949092457
SN - 0167-6806
VL - 117
SP - 371
EP - 379
JO - Breast Cancer Research and Treatment
JF - Breast Cancer Research and Treatment
IS - 2
ER -