title: No evidence that GATA3 rs570613 SNP modifies breast cancer risk.
abstract: 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 (OR(per-allele) = 1.00, 95% CI 0.94-1.05), in ER negative BCAC cases (OR(per-allele) = 1.02, 95% CI 0.91-1.13), in BRCA1 mutation carriers RR(per-allele) = 0.99, 95% CI 0.90-1.09) or BRCA2 mutation carriers (RR(per-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.
authors.affiliation: Cancer and Cell Biology, Queensland Institute of Medical Research, c/o Royal Brisbane Hospital Post Office, Herston, Brisbane, QLD 4029, Australia.
authors.forename: Sharon E
authors.initials: SE
authors.lastname: Johnatty
authors.forename: Fergus J
authors.initials: FJ
authors.lastname: Couch
authors.forename: Zachary
authors.initials: Z
authors.lastname: Fredericksen
authors.forename: Robert
authors.initials: R
authors.lastname: Tarrell
authors.forename: Amanda B
authors.initials: AB
authors.lastname: Spurdle
authors.forename: Jonathan
authors.initials: J
authors.lastname: Beesley
authors.forename: Xiaoqing
authors.initials: X
authors.lastname: Chen
authors.forename: Daphne
authors.initials: D
authors.lastname: Gschwantler-Kaulich
authors.forename: Christian F
authors.initials: CF
authors.lastname: Singer
authors.forename: Christine
authors.initials: C
authors.lastname: Fuerhauser
authors.forename: Anneliese
authors.initials: A
authors.lastname: Fink-Retter
authors.forename: Susan M
authors.initials: SM
authors.lastname: Domchek
authors.forename: Katherine L
authors.initials: KL
authors.lastname: Nathanson
authors.forename: Vernon S
authors.initials: VS
authors.lastname: Pankratz
authors.forename: Noralane M
authors.initials: NM
authors.lastname: Lindor
authors.forename: Andrew K
authors.initials: AK
authors.lastname: Godwin
authors.forename: Maria A
authors.initials: MA
authors.lastname: Caligo
authors.forename: John
authors.initials: J
authors.lastname: Hopper
authors.forename: Melissa C
authors.initials: MC
authors.lastname: Southey
authors.forename: Graham G
authors.initials: GG
authors.lastname: Giles
authors.forename: Christina
authors.initials: C
authors.lastname: Justenhoven
authors.forename: Hiltrud
authors.initials: H
authors.lastname: Brauch
authors.forename: Ute
authors.initials: U
authors.lastname: Hamann
authors.forename: Yon-Dschun
authors.initials: YD
authors.lastname: Ko
authors.forename: Tuomas
authors.initials: T
authors.lastname: Heikkinen
authors.forename: Kirsimari
authors.initials: K
authors.lastname: Aaltonen
authors.forename: Kristiina
authors.initials: K
authors.lastname: Aittomäki
authors.forename: Carl
authors.initials: C
authors.lastname: Blomqvist
authors.forename: Heli
authors.initials: H
authors.lastname: Nevanlinna
authors.forename: Per
authors.initials: P
authors.lastname: Hall
authors.forename: Kamila
authors.initials: K
authors.lastname: Czene
authors.forename: Jianjun
authors.initials: J
authors.lastname: Liu
authors.forename: Susan
authors.initials: S
authors.lastname: Peock
authors.forename: Margaret
authors.initials: M
authors.lastname: Cook
authors.forename: Radka
authors.initials: R
authors.lastname: Platte
authors.forename: D
authors.initials: D
authors.lastname: Gareth Evans
authors.forename: Fiona
authors.initials: F
authors.lastname: Lalloo
authors.forename: Rosalind
authors.initials: R
authors.lastname: Eeles
authors.forename: Gabriella
authors.initials: G
authors.lastname: Pichert
authors.forename: Diana
authors.initials: D
authors.lastname: Eccles
authors.forename: Rosemarie
authors.initials: R
authors.lastname: Davidson
authors.forename: Trevor
authors.initials: T
authors.lastname: Cole
authors.forename: Jackie
authors.initials: J
authors.lastname: Cook
authors.forename: Fiona
authors.initials: F
authors.lastname: Douglas
authors.forename: Carol
authors.initials: C
authors.lastname: Chu
authors.forename: Shirley
authors.initials: S
authors.lastname: Hodgson
authors.forename: Joan
authors.initials: J
authors.lastname: Paterson
authors.forename: Frans B L
authors.initials: FB
authors.lastname: Hogervorst
authors.forename: Matti A
authors.initials: MA
authors.lastname: Rookus
authors.forename: Caroline
authors.initials: C
authors.lastname: Seynaeve
authors.forename: Juul
authors.initials: J
authors.lastname: Wijnen
authors.forename: Maaike
authors.initials: M
authors.lastname: Vreeswijk
authors.forename: Marjolijn
authors.initials: M
authors.lastname: Ligtenberg
authors.forename: Rob B
authors.initials: RB
authors.lastname: van der Luijt
authors.forename: Theo A M
authors.initials: TA
authors.lastname: van Os
authors.forename: Hans J P
authors.initials: HJ
authors.lastname: Gille
authors.forename: Marinus J
authors.initials: MJ
authors.lastname: Blok
authors.forename: Claudine
authors.initials: C
authors.lastname: Issacs
authors.forename: Manjeet K
authors.initials: MK
authors.lastname: Humphreys
authors.forename: Lesley
authors.initials: L
authors.lastname: McGuffog
authors.forename: Sue
authors.initials: S
authors.lastname: Healey
authors.forename: Olga
authors.initials: O
authors.lastname: Sinilnikova
authors.forename: Antonis C
authors.initials: AC
authors.lastname: Antoniou
authors.forename: Douglas F
authors.initials: DF
authors.lastname: Easton
authors.forename: Georgia
authors.initials: G
authors.lastname: Chenevix-Trench
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D050990:GATA3 Transcription Factor / Q000235:genetics*; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human