IJCEM Copyright © 2008-All rights reserved. Published by e-Century Publishing Corporation, Madison, WI 53711
Int J Clin Exp Med 2012;5(4):332-341

Original Article
Estrogen receptor genes variations and breast cancer risk in Iran

Sakineh Abbasi, Mehrnaz Nouri, Cyrus Azimi

Department of Medical Biotechnology, School of Allied Medical Sciences, Tehran University of Medical Sciences, Iran. Department of
Biology, Lund University, Solvegatan 35, Building C, SE-223 62 Lund, Sweden; Department of Genetics, Cancer Institute, Imam
Khomeini Hospital Complex, Tehran University of  Medical sciences, Tehran, Iran,

Received January 31, 2012; accepted June 21, 2012; Epub August 25, 2012; Published September 15, 2012

Abstract: Evidence suggests that alterations in estrogen signaling pathways, including estrogen receptor α (ER-α) and estrogen
receptor β (ER-β) occur during breast cancer development. ER-α and ER-β genes polymorphisms have been found to be associated
with breast cancer and clinical features of the disease in the western countries. In the current study, we evaluated the hypothesis that
certain sequence variants of the ER-α and ER-β  genes are associated with an additively increased risk for breast cancer in Iranian
women breast cancer patients. The genes were scanned in 150 Iranian patients with newly diagnosed invasive breast tumors and in
healthy control individuals by PCR single-strand conformation polymorphism (SSCP) method. Three single nucleotide polymorphisms
(SNPs) in codon10 (TCT→TCC), codon 352 (CCG→CCC) and codon 594 (ACG→ACA) in ER-α gene and one SNP codon 392
(CTC→CTG) in ER-β were revealed have additive effects in developing breast cancer and LN metastases. Also, SNP in codon 392 of
estrogen receptor-β gene is more effective (threefold) than those SNPs in codons 10, 325, 594 of estrogen receptor-α gene in
developing LN metastases in breast cancer patients. SNPs in estrogen receptor α and β have additive effects in increasing risk for
developing breast cancer with LN metastases among Iranian women breast cancer patients. (IJCEM1202001).

Keywords: Breast cancer, estrogen receptor, LN metastases, polymorphism


Address all correspondence to:
Dr. Sakineh Abbasi
Department of Medical Laboratory Sciences
Faculty of allied Medicine
Tehran University of Medical Sciences
Tehran, Iran;
1 Housein St., Khazar Ave., Elaheih,
Tehran, 1919454557, Iran.
Tel: + 98 9123211428; Fax: +98 21 8896730
E-mail: sakineh4612004@yahoo.com & abbasisk@tums.ac.ir