Analysis of a single nucleotide polymorphism in the promoter region of estrogen receptor beta gene in women with breast cancer

Objective. Estrogens are involved in both normal mammary development and in breast carcinogenesis. A family history of disease and exposure to estrogens are major risk factors for developing breast cancer. Genetic variations like single nucleotide polymorphisms (SNPs) in genes involved in estrogen biosynthesis, metabolism and signal transduction have been suggested to play a role in breast cancer risk. In this study we tested the hypothesis that polymorphisms in the promoter region of estrogen receptor beta (ESR2) gene may be associated with increased risk for breast cancer. Methods. We tested three ESR2 promoter region polymorphisms, rs2987983, rs3020449 and rs3020450 for association to breast cancer risk by means of allele specific PCR. A total of 316 breast cancer cases and 316 controls were included in the study. Results. With regard to homozygous genotypes, women with breast cancer more frequently carried the CC genotype of ESR2 promoter SNP rs2987983 (OR 1.622, p=0.04). Calculation of allele positivity revealed that presence of C allele also was less frequent in healthy women. Conclusion. Our data suggest that a SNP in the promoter region of ESR2 gene is able to affect breast cancer risk. These data further support the emerging hypothesis that ESR2 is an important factor in breast cancer development.

breast cancer - estrogen receptor beta - single nucleotide polymorphism