PMID- 18006915
OWN - NLM
STAT- MEDLINE
DCOM- 20080516
LR  - 20150813
IS  - 1055-9965 (Print)
IS  - 1055-9965 (Linking)
VI  - 16
IP  - 11
DP  - 2007 Nov
TI  - Common genetic variation in GATA-binding protein 3 and differential 
      susceptibility to breast cancer by estrogen receptor alpha tumor status.
PG  - 2269-75
AB  - GATA-binding protein 3 (GATA3) is a transcription factor and a putative tumor 
      suppressor that is highly expressed in normal breast luminal epithelium and 
      estrogen receptor alpha (ER)-positive breast tumors. We hypothesized that common 
      genetic variation in GATA3 could influence breast carcinogenesis. Four tag 
      single-nucleotide polymorphisms (SNP) in GATA3 and its 3' flanking gene FLJ4598 
      were genotyped in two case control studies in Norway and Poland (2,726 cases and 
      3,420 controls). Analyses of pooled data suggested a reduced risk of breast 
      cancer associated with two intronic variants in GATA3 in linkage disequilibrium 
      (rs3802604 in intron 3 and rs570613 in intron 4). Odds ratio (95% confidence 
      interval) for rs570613 heterozygous and rare homozygous versus common homozygous 
      were 0.85 (0.75-1.95) and 0.82 (0.62-0.96), respectively (P(trend)=0.004). 
      Stronger associations were observed for subjects with ER-negative, than 
      ER-positive, tumors (P(heterogeneity)=0.01 for rs3802604; P(heterogeneity)=0.09 
      for rs570613). Although no individual SNPs were associated with ER-positive 
      tumors, two haplotypes (GGTC in 2% of controls and AATT in 7% of controls) showed 
      significant and consistent associations with increased risk for these tumors when 
      compared with the common haplotype (GATT in 46% of controls): 1.71 (1.27-2.32) 
      and 1.26 (1.03-1.54), respectively. In summary, data from two independent study 
      populations showed two intronic variants in GATA3 associated with overall 
      decreases in breast cancer risk and suggested heterogeneity of these associations 
      by ER status. These differential associations are consistent with markedly 
      different levels of GATA3 protein by ER status. Additional epidemiologic studies 
      are needed to clarify these intriguing relationships.
FAU - Garcia-Closas, Montserrat
AU  - Garcia-Closas M
AD  - Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, 
      6120 Executive Boulevard, Room 7076, MSC 7234, Rockville, MD 20852-7234, USA. 
      montse@nih.gov
FAU - Troester, Melissa A
AU  - Troester MA
FAU - Qi, Ying
AU  - Qi Y
FAU - Langerod, Anita
AU  - Langerod A
FAU - Yeager, Meredith
AU  - Yeager M
FAU - Lissowska, Jolanta
AU  - Lissowska J
FAU - Brinton, Louise
AU  - Brinton L
FAU - Welch, Robert
AU  - Welch R
FAU - Peplonska, Beata
AU  - Peplonska B
FAU - Gerhard, Daniela S
AU  - Gerhard DS
FAU - Gram, Inger Torhild
AU  - Gram IT
FAU - Kristensen, Vessela
AU  - Kristensen V
FAU - Borresen-Dale, Anne-Lise
AU  - Borresen-Dale AL
FAU - Chanock, Stephen
AU  - Chanock S
FAU - Perou, Charles M
AU  - Perou CM
LA  - eng
GR  - P50-CA58223/CA/NCI NIH HHS/United States
GR  - R01-CA-101227-01/CA/NCI NIH HHS/United States
GR  - R25 CA57726/CA/NCI NIH HHS/United States
GR  - Intramural NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, N.I.H., Intramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Epidemiol Biomarkers Prev
JT  - Cancer epidemiology, biomarkers & prevention : a publication of the American 
      Association for Cancer Research, cosponsored by the American Society of 
      Preventive Oncology
JID - 9200608
RN  - 0 (Estrogen Receptor alpha)
RN  - 0 (GATA3 Transcription Factor)
RN  - 0 (GATA3 protein, human)
RN  - 0 (Receptors, Progesterone)
SB  - IM
MH  - Adult
MH  - Age Factors
MH  - Aged
MH  - Aged, 80 and over
MH  - Breast Neoplasms/*genetics/metabolism
MH  - Case-Control Studies
MH  - Estrogen Receptor alpha/*genetics/metabolism
MH  - Female
MH  - GATA3 Transcription Factor/*genetics
MH  - Genetic Predisposition to Disease
MH  - Genetic Variation
MH  - Genotype
MH  - Haplotypes
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Menopause
MH  - Middle Aged
MH  - Polymorphism, Single Nucleotide
MH  - Receptors, Progesterone/genetics
EDAT- 2007/11/17 09:00
MHDA- 2008/05/17 09:00
CRDT- 2007/11/17 09:00
PHST- 2007/11/17 09:00 [pubmed]
PHST- 2008/05/17 09:00 [medline]
PHST- 2007/11/17 09:00 [entrez]
AID - 16/11/2269 [pii]
AID - 10.1158/1055-9965.EPI-07-0449 [doi]
PST - ppublish
SO  - Cancer Epidemiol Biomarkers Prev. 2007 Nov;16(11):2269-75. doi: 
      10.1158/1055-9965.EPI-07-0449.