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| IJCEM Copyright © 2008-All rights reserved. Published by e-Century Publishing Corporation, Madison, WI 53711 |
Int J Clin Exp Med 2013;6(1):39-49
Original Article
Association of estrogen receptor-α A908G (K303R) mutation with breast cancer risk
Sakineh Abbasi, Mina Rasouli, Mehrnaz Nouri, Samira Kalbasi
Department of Biotechnology, School of Allied Medicine, Tehran University of Medical Sciences, Tehran, 1985717443, Iran; Laboratory
of Vaccines and Immunotherapeutics,Institute of Bioscience, University Putra Malaysia, UPM, Serdang,43400, Selangor, Malaysia;
Department of Biology, Lund University Sölvegatan 35, SE-223 62 Lund, Sweden; DVM, Faculty of Veterinary, University of Tehran,
Tehran, 1417965463, Iran
Received September 16, 2012; accepted November 3, 2012; Epub November 18, 2012; Published January 1, 2013
Abstract: Genetic mutations in premalignant breast lesions may have a role in malignancy progression or influence the behavior of
subsequent disease. A point mutation in estrogen receptor-α (ER-α) as A908G (Lys303→Arg) was originally involved to hypersensitive
to estrogen breast hyperplasia. We detected this mutation among Iranian women with invasive breast cancer. A population-based case-
control study was conducted in 150 newly diagnosed invasive breast cancer and 147 healthy control individuals controls to screen for
presence of the ER-α A908G mutation by using single-strand conformation polymorphism (SSCP) analysis and 33Pcycle DNA
sequencing. We detected the 10.7% ER-α A908G mutation in the form of heterozygote genotype only among cancer patients (χ2=22.
752, P=0.00). The allelic frequency of mutant allele AGG in codon 303 was significantly (χ2=29.709, P=0.001) higher in patients with the
family history of breast cancer (28.9%) than those without the family history of breast cancer (1.9%). Our data suggest that ER-α codon
303 mutation is correlated with various aspects of breast cancer in Iran. ER-α genotype might represent a surrogate marker for
predicting breast cancer developing later in life. (IJCEM1209005).
Keywords: Breast cancer, mutation, estrogen receptor, PCR-SSCP, lymph node metastasis
Address all correspondence to:
Dr. Sakineh Abbasi
Department of Biotechnology
School of Allied Medicine
Tehran University of Medical Sciences
Tehran, Iran.
Mailing Address: #1 Housein Alley, Khazar St., Elahieh, Tehran 19149, Iran.
Tel: + 98 9123211428; Fax: +98 21 88622533
E-mail: abbasisk@tums.ac.ir; OR: sakineh4612004@yahoo.com
Original Article
Association of estrogen receptor-α A908G (K303R) mutation with breast cancer risk
Sakineh Abbasi, Mina Rasouli, Mehrnaz Nouri, Samira Kalbasi
Department of Biotechnology, School of Allied Medicine, Tehran University of Medical Sciences, Tehran, 1985717443, Iran; Laboratory
of Vaccines and Immunotherapeutics,Institute of Bioscience, University Putra Malaysia, UPM, Serdang,43400, Selangor, Malaysia;
Department of Biology, Lund University Sölvegatan 35, SE-223 62 Lund, Sweden; DVM, Faculty of Veterinary, University of Tehran,
Tehran, 1417965463, Iran
Received September 16, 2012; accepted November 3, 2012; Epub November 18, 2012; Published January 1, 2013
Abstract: Genetic mutations in premalignant breast lesions may have a role in malignancy progression or influence the behavior of
subsequent disease. A point mutation in estrogen receptor-α (ER-α) as A908G (Lys303→Arg) was originally involved to hypersensitive
to estrogen breast hyperplasia. We detected this mutation among Iranian women with invasive breast cancer. A population-based case-
control study was conducted in 150 newly diagnosed invasive breast cancer and 147 healthy control individuals controls to screen for
presence of the ER-α A908G mutation by using single-strand conformation polymorphism (SSCP) analysis and 33Pcycle DNA
sequencing. We detected the 10.7% ER-α A908G mutation in the form of heterozygote genotype only among cancer patients (χ2=22.
752, P=0.00). The allelic frequency of mutant allele AGG in codon 303 was significantly (χ2=29.709, P=0.001) higher in patients with the
family history of breast cancer (28.9%) than those without the family history of breast cancer (1.9%). Our data suggest that ER-α codon
303 mutation is correlated with various aspects of breast cancer in Iran. ER-α genotype might represent a surrogate marker for
predicting breast cancer developing later in life. (IJCEM1209005).
Keywords: Breast cancer, mutation, estrogen receptor, PCR-SSCP, lymph node metastasis
Address all correspondence to:
Dr. Sakineh Abbasi
Department of Biotechnology
School of Allied Medicine
Tehran University of Medical Sciences
Tehran, Iran.
Mailing Address: #1 Housein Alley, Khazar St., Elahieh, Tehran 19149, Iran.
Tel: + 98 9123211428; Fax: +98 21 88622533
E-mail: abbasisk@tums.ac.ir; OR: sakineh4612004@yahoo.com
