Literature DB >> 19429453

Polymorphisms in the promoter region of ESR2 gene and breast cancer susceptibility.

Oliver Treeck1, Esma Elemenler, Christina Kriener, Felicitas Horn, Anette Springwald, Arndt Hartmann, Olaf Ortmann.   

Abstract

Genetic variations like single nucleotide polymorphisms (SNPs) in genes involved in estrogen biosynthesis, metabolism and signal transduction have been suggested to affect breast cancer susceptibility. In this study we tested the hypothesis that polymorphisms in the promoter of ESR2 gene may be associated with increased risk for breast cancer. We analyzed three SNPs in the promoter region of human ESR2 gene by means of allele-specific tetra-primer PCR. A total of 318 sporadic breast cancer cases and 318 age-matched controls were included in the study. With regard to homozygous genotypes, women with sporadic breast cancer more frequently carried the CC genotype of ESR2 promoter SNP rs2987983 (OR 1.99, p=0.005). Calculation of allele positivity demonstrated that presence of T allele of this SNP was more frequent in healthy women. Our data suggest that a SNP in the promoter region of ESR2 gene might be able to affect breast cancer risk. These results further support the emerging hypothesis that ERbeta is an important factor in breast cancer development.

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Year:  2009        PMID: 19429453     DOI: 10.1016/j.jsbmb.2009.02.012

Source DB:  PubMed          Journal:  J Steroid Biochem Mol Biol        ISSN: 0960-0760            Impact factor:   4.292


  13 in total

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