No evidence that GATA3 rs570613 SNP modifies breast cancer risk

被引：8

作者：

Johnatty, Sharon E. ^{[1
]}

Couch, Fergus J. ^{[2
]}

Fredericksen, Zachary ^{[2
]}

Tarrell, Robert ^{[2
]}

Spurdle, Amanda B. ^{[1
]}

Beesley, Jonathan ^{[1
]}

Chen, Xiaoqing ^{[1
]}

Gschwantler-Kaulich, Daphne ^{[5
]}

Singer, Christian F. ^{[5
]}

Fuerhauser, Christine ^{[5
]}

Fink-Retter, Anneliese ^{[5
]}

Domchek, Susan M. ^{[6
]}

Nathanson, Katherine L. ^{[6
]}

Pankratz, Vernon S. ^{[2
]}

Lindor, Noralane M. ^{[2
]}

Godwin, Andrew K. ^{[7
]}

Caligo, Maria A. ^{[8
,36
]}

Hopper, John ^{[9
]}

Southey, Melissa C. ^{[9
]}

Giles, Graham G. ^{[10
]}

Justenhoven, Christina ^{[11
,12
]}

Brauch, Hiltrud ^{[11
,12
]}

Hamann, Ute ^{[13
]}

Ko, Yon-Dschun ^{[14
]}

Heikkinen, Tuomas ^{[15
]}

Aaltonen, Kirsimari ^{[15
,17
]}

Aittomaki, Kristiina ^{[16
]}

Blomqvist, Carl ^{[17
]}

Nevanlinna, Heli ^{[15
]}

Hall, Per ^{[18
]}

Czene, Kamila ^{[18
]}

Liu, Jianjun ^{[19
]}

Peock, Susan ^{[2
,38
]}

Cook, Margaret ^{[2
,38
]}

Platte, Radka ^{[2
,38
]}

Evans, D. Gareth ^{[2
,39
]}

Lalloo, Fiona ^{[2
,39
]}

Eeles, Rosalind ^{[2
,40
,41
]}

Pichert, Gabriella ^{[2
,42
]}

Eccles, Diana ^{[2
,43
]}

Davidson, Rosemarie ^{[20
]}

Cole, Trevor ^{[2
,44
]}

Cook, Jackie ^{[21
]}

Douglas, Fiona ^{[22
]}

Chu, Carol ^{[23
]}

Hodgson, Shirley ^{[3
,45
]}

Paterson, Joan ^{[3
,46
]}

Hogervorst, Frans B. L. ^{[24
]}

Rookus, Matti A. ^{[25
]}

Seynaeve, Caroline ^{[26
]}

机构：

[1] Queensland Inst Med Res, Brisbane, Qld 4029, Australia

[2] Mayo Clin, Coll Med, Rochester, MN USA

[3] Peter MacCallum Canc Ctr, Melbourne, Vic, Australia

[4] Karolinska Univ Hosp, Stockholm, Sweden

[5] Med Univ Vienna, Div Special Gynecol, Dept OB GYN, Vienna, Austria

[6] Univ Penn, Philadelphia, PA 19104 USA

[7] Fox Chase Canc Ctr, Dept Med Oncol, Philadelphia, PA 19111 USA

[8] Univ Pisa, Dept Oncol, Div Surg Mol & Ultrastructural Pathol, Sect Genet Oncol, Pisa, Italy

[9] Univ Melbourne, Ctr MEGA Epidemiol, Melbourne, Vic, Australia

[10] Canc Council Victoria, Melbourne, Vic, Australia

[11] Dr Margarete Fischer Bosch Inst Clin Pharmacol, D-7000 Stuttgart, Germany

[12] Univ Tubingen, Tubingen, Germany

[13] DKFZ, Heidelberg, Germany

[14] Johanniter Krankenhaus, Evangel Kliniken Bonn gGmbH, Dept Internal Med, Bonn, Germany

[15] Univ Helsinki, Cent Hosp, Dept Obstet & Gynecol, FIN-00290 Helsinki, Finland

[16] Univ Helsinki, Cent Hosp, Dept Clin Genet, Helsinki, Finland

[17] Univ Helsinki, Cent Hosp, Dept Oncol, Helsinki, Finland

[18] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[19] Genome Inst Singapore, Singapore, Singapore

[20] Ferguson Smith Ctr Clin Genet, Glasgow, Lanark, Scotland

[21] Sheffield Childrens Hosp, Dept Clin Genet, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

[22] Ctr Life, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England

[23] Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England

[24] Netherlands Canc Inst, Dept Clin Mol Genet, Amsterdam, Netherlands

[25] Netherlands Canc Inst, Dept Epidemiol, Amsterdam, Netherlands

[26] Erasmus Univ, Med Ctr, Dept Med Oncol, Rotterdam, Netherlands

[27] Leiden Univ, Med Ctr, Dept Clin Mol Genet, Leiden, Netherlands

[28] Leiden Univ, Med Ctr, Dept Mol Genet, Leiden, Netherlands

[29] Univ Med Ctr Nijmegen, Dept Clin Mol Genet, Nijmegen, Netherlands

[30] Univ Utrecht, Med Ctr, Dept Clin Mol Genet, Utrecht, Netherlands

[31] Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

[32] Free Univ Amsterdam, Med Ctr, Dept Clin Mol Genet, Amsterdam, Netherlands

[33] Univ Med Ctr Maastricht, Dept Clin Mol Genet, Maastricht, Netherlands

[34] Georgetown Univ, Lombardi Comprehens Canc Ctr, Washington, DC USA

[35] Hosp Civils Lyon, Ctr Leon Berard, Unite Mixte Genet Constitut Canc Frequents, Lyon, France

[36] Pisa Univ Hosp, Pisa, Italy

[37] Univ Lyon, Lab Genet Mol Signalisat & Canc, Lyon, France

[38] Univ Cambridge, Dept Publ Hlth & Primary Care, Canc Res UK Genet Epidemiol Unit, Cambridge, England

[39] St Marys Hosp, Acad Unit Med Genet & Reg Genet, Manchester M13 0JH, Lancs, England

[40] Inst Canc Res, Translat Canc Genet Team, London SW3 6JB, England

[41] Royal Marsden NHS Fdn Trust, London, England

[42] Guys Hosp, London SE1 9RT, England

[43] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England

[44] Birmingham Womens Hosp Healthcare NHS Trust, W Midlands Reg Genet Serv, Birmingham, W Midlands, England

[45] Univ London, St Georges Hosp, Dept Canc Genet, London, England

[46] Addenbrookes Hosp, E Anglian Reg Genet Serv, Dept Clin Genet, Cambridge, England

来源：

BREAST CANCER RESEARCH AND TREATMENT | 2009年 / 117卷 / 02期

基金：

澳大利亚国家健康与医学研究理事会;

关键词：

GATA3; Breast cancer; Polymorphism; BRCA1 and BRCA2; Risk; LUMINAL CELL FATE; ESTROGEN-RECEPTOR; MAMMARY-GLAND; EXPRESSION; DIFFERENTIATION; SUSCEPTIBILITY; ASSOCIATION; MUTATION; CARRIERS; TUMORS;

D O I：

10.1007/s10549-008-0257-1

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：371 / 379

页数：9

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