No evidence that GATA3 rs570613 SNP modifies breast cancer risk.
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.
Johnatty
Sharon E
SE
Cancer and Cell Biology, Queensland Institute of Medical Research, c/o Royal Brisbane Hospital Post Office, Herston, Brisbane, QLD 4029, Australia.
Couch
Fergus J
FJ
Fredericksen
Zachary
Z
Tarrell
Robert
R
Spurdle
Amanda B
AB
Beesley
Jonathan
J
Chen
Xiaoqing
X
Gschwantler-Kaulich
Daphne
D
Singer
Christian F
CF
Fuerhauser
Christine
C
Fink-Retter
Anneliese
A
Domchek
Susan M
SM
Nathanson
Katherine L
KL
Pankratz
Vernon S
VS
Lindor
Noralane M
NM
Godwin
Andrew K
AK
Caligo
Maria A
MA
Hopper
John
J
Southey
Melissa C
MC
Giles
Graham G
GG
Justenhoven
Christina
C
Brauch
Hiltrud
H
Hamann
Ute
U
Ko
Yon-Dschun
YD
Heikkinen
Tuomas
T
Aaltonen
Kirsimari
K
Aittomäki
Kristiina
K
Blomqvist
Carl
C
Nevanlinna
Heli
H
Hall
Per
P
Czene
Kamila
K
Liu
Jianjun
J
Peock
Susan
S
Cook
Margaret
M
Platte
Radka
R
Gareth Evans
D
D
Lalloo
Fiona
F
Eeles
Rosalind
R
Pichert
Gabriella
G
Eccles
Diana
D
Davidson
Rosemarie
R
Cole
Trevor
T
Cook
Jackie
J
Douglas
Fiona
F
Chu
Carol
C
Hodgson
Shirley
S
Paterson
Joan
J
Hogervorst
Frans B L
FB
Rookus
Matti A
MA
Seynaeve
Caroline
C
Wijnen
Juul
J
Vreeswijk
Maaike
M
Ligtenberg
Marjolijn
M
van der Luijt
Rob B
RB
van Os
Theo A M
TA
Gille
Hans J P
HJ
Blok
Marinus J
MJ
Issacs
Claudine
C
Humphreys
Manjeet K
MK
McGuffog
Lesley
L
Healey
Sue
S
Sinilnikova
Olga
O
Antoniou
Antonis C
AC
Easton
Douglas F
DF
Chenevix-Trench
Georgia
G
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
D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human