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 (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. 

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

Nyckelord

BRCA1 and BRCA2

Breast cancer

GATA3

Polymorphism

Risk

estrogen receptor

transcription factor GATA 3

adult

allele

article

BRCA2 oncogene

cancer risk

cell differentiation

controlled study

female

GATA3 gene

gene linkage disequilibrium

genetic association

genetic marker

genotype

human

intron

major clinical study

mammary gland

morphogenesis

Norway

oncogene

Poland

priority journal

risk reduction

single nucleotide polymorphism

stem cell

Breast Neoplasms

GATA3 Transcription Factor

Genes

BRCA1

Genes

BRCA2

Genetic Predisposition to Disease

Humans

Linkage Disequilibrium

Mutation

Polymorphism

Single Nucleotide

Risk Factors

MEDICINE

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)