rs2228480 Polymorphism In ESR1 Gene And Risk Of Breast Cancer

Abstract

Background and Aim: ESR1 gene polymorphism has been found to be associated with breast cancer and clinical features of the disease in Caucasians. Genomic data for ESR1 in either population is therefore of value in the clinical setting for that ethnic group. In this study association of polymorphism in ESR1 gene with breast cancer risk was investigated. Materials and Methods: A case-control study was conducted to establish a database of ESR1 polymorphisms in Iranian population. The ESR1 gene was scanned in Iranian patients newly diagnosed with invasive breast tumors, (150 patients) and in healthy individuals (147) (healthy control individuals). PCR single-strand conformation polymorphism technology and direct sequencing was performed. Results: The frequency of heterozygote genotype in exon 8 (ACG → ACA / ) was significantly higher in breast cancer patients (48.0%) than in control individuals (1.4%). We found that mutant allele (ACA) was significantly more common in breast cancer patients with age at menarche <!--=12 (40.8%) than in those which their menstruation began at older than 12 years old (23.9%). The mutant allele ACA exhibited, the greater the frequency, the lesser the likelihood of LN metastasis. Our results demonstrated that this particular SNP marker may increase accuracy in predicting LN. Conclusion: Our data suggest that ESR1 polymorphisms are correlated with various aspects of breast cancer in Iranian ESR1 genotype, as determined during pre-surgical evaluation, might represent a surrogate marker to increase predicting breast cancer in Iranian population.

Keywords

• breast cancer
• estrogen receptor-α
• polymorphism
• pcr-sscp