ISSN: 0970-938X (Print) | 0976-1683 (Electronic)

Biomedical Research

An International Journal of Medical Sciences


Evaluation of genetic polymorphism in estrogen receptor ? gene as breast cancer risk.

Breast cancer is very common cancer worldwide. Estrogen is one of the most important steroid hormones which play an important role in breast cancer. The aim of this study was to evaluate frequency distribution of ER-α gene SNPs in breast cancer patients and controls to find out any association with breast cancer risk. In the present study, two hundred breast cancer patients and one hundred age matched controls were taken to study breast cancer risk factors. The odd ratio (ORs) at 95% confidence interval (CIs) was computed to study significance of risk factor on menopausal status. Contribution of ESR1 gene in breast cancer was examined that allele frequency showed non-significant difference among patients and control group for rs138724640 and rs373404617 (p=0.4015 and p=0.8422 respectively). Odd ratio analysis showed that SNP rs2234693 and rs9340799 located on intron 1 were associated with breast cancer (p=0.0111, 0.025 respectively). SNP rs2077647 located on exon 3 showed only borderline significance (p=0.0777). C allele was found to be more prevalent in both patients and control group of rs138724640 and rs2234693. ‘A’ allele was more prevalent in breast cancer patients and controls of rs9340799 and in controls of rs373404617. The frequency of G allele was found to be more in breast cancer patients of rs373404617. In cases of SNP rs2077647, T allele was more frequent in both breast cancer patients and control group. Present study results suggest the difference of genotype distribution of ESR1 SNPs between breast cancer patients and controls; hence establish the association with breast cancer risk. Further validation studies are required on additional ESR1 SNPs to study the breast cancer risk using larger cohort.

Author(s): Preeti Chauhan, Ritu Yadav, Vivek Kaushal, Lokesh Kadian
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