rs2228480 Polymorphism In ESR1 Gene And Risk Of Breast Cancer
Author(s):
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 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
Language:
Persian
Published:
Journal of Payavard Salamat, Volume:8 Issue: 6, 2015
Pages:
478 to 491
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