The association of codon 392 polymorphism in ESR2 gene with breast cancer in Iran
https://doi.org/10.24017/science.2019.ICHMS.26
Abstract views: 1519 / PDF downloads: 652Abstract
Epidemiological studies revealed that the pattern of age onset of breast cancer in the Middle East region differ from those in Caucasians. Therefore, genomic data for ESR2 (ER-?) is of the value in the clinical setting for that ethnic group and the aim of the current investigation is investigated whether polymorphisms in the ER-? gene are associated with breast cancer risk among Iranian women. The coding sequence in Exon 7 at ESR2 gene was looking for any variation among the Iranian breast cancer women by SSCP-PCR method. In codon 392 of exon 7, showed a silent SNP (silent single nucleotide polymorphism). The frequency of allele G in codon 392 (CTC ? CTG was found only in cases (5.7%). We also found that allele G in codon 392 (C1176G) had direct association with development of lymph node metastasis in breast cancer. The current results suggest that ESR2 SNP in exon 7, codon 392 is associated with various aspects of breast cancer in Iran. ESR2 gene structure determination, in presurgical evaluation, might be a useful marker in predicting familial breast cancer and metastasis in LN.
Keywords:
Breast cancer, estrogen receptor-β (ESR2), polymorphism, metastases, PCR-SSCP.
References
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https://doi.org/10.2147/BCTT.S189197
https://doi.org/10.1136/bmj.321.7261.624
[2] I. Harirchi, M. Ebrahimi, N. Zamani, S. Jarvandi, and A. Montazeri, "Breast cancer in Iran: a review of 903 case records," Public health, vol. 114, no. 2, pp. 143-145, 2000.
https://doi.org/10.1016/S0033-3506(00)00324-3
[3] S. M. Mousavi et al., "Breast cancer in Iran: an epidemiological review," The breast journal, vol. 13, no. 4, pp. 383-391, 2007.
https://doi.org/10.1111/j.1524-4741.2007.00446.x
[4] B. Newman, H. Mu, L. M. Butler, R. C. Millikan, P. G. Moorman, and M.-C. King, "Frequency of breast cancer attributable to BRCA1 in a population-based series of American women," Jama, vol. 279, no. 12, pp. 915-921, 1998.
https://doi.org/10.1001/jama.279.12.915
[5] C. B. Tempfer, C. Schneeberger, and J. C. Huber, "Applications of polymorphisms and pharmacogenomics in obstetrics and gynecology," Pharmacogenomics, vol. 5, no. 1, pp. 57-65, 2004.
https://doi.org/10.1517/phgs.5.1.57.25687
[6] S. C. Lymberis, P. K. Parhar, E. Katsoulakis, and S. C. Formenti, "Pharmacogenomics and breast cancer," Pharmacogenomics, vol. 5, no. 1, pp. 31-55, 2004.
https://doi.org/10.1517/phgs.5.1.31.25686
[7] K. I. Bland and E. M. Copeland III, "The breast: comprehensive management of benign and malignant disorders 3rd. ed," St. Louis: Elsevier, 2004.
[8] N. Roodi et al., "Estrogen receptor gene analysis in estrogen receptor-positive and receptor-negative primary breast cancer," JNCI: Journal of the National Cancer Institute, vol. 87, no. 6, pp. 446-451, 1995.
https://doi.org/10.1093/jnci/87.6.446
[9] J. Wang et al., "Estrogen receptor alpha haplotypes and breast cancer risk in older Caucasian women," Breast cancer research and treatment, vol. 106, no. 2, pp. 273-280, 2007.
https://doi.org/10.1007/s10549-007-9497-8
[10] R. M. Ghali et al., "Differential association of ESR1 and ESR2 gene variants with the risk of breast cancer and associated features: A case-control study," Gene, vol. 651, pp. 194-199, 2018.
https://doi.org/10.1016/j.gene.2018.02.011
[11] S. Chattopadhyay et al., "Genetic polymorphisms of ESR1, ESR2, CYP17A1, and CYP19A1 and the risk of breast cancer: a case control study from North India," Tumor Biology, vol. 35, no. 5, pp. 4517-4527, 2014.
https://doi.org/10.1007/s13277-013-1594-1
[12] V. Srinivasan et al., "Melatonin, environmental light, and breast cancer," Breast cancer research and treatment, vol. 108, no. 3, pp. 339-350, 2008.
https://doi.org/10.1007/s10549-007-9617-5
[13] "Ensembl genome browser 97." [Online]. Available: https://asia.ensembl.org/index.html. [Accessed: 05-Jul-2019].
[14] K. Rosenkranz et al., "Systematic mutation screening of the estrogen receptor beta gene in probands of different weight extremes: identification of several genetic variants," The Journal of Clinical Endocrinology & Metabolism, vol. 83, no. 12, p. 4524, 1998.
https://doi.org/10.1210/jcem.83.12.5471
[15] C. Sundarrajan, W. X. Liao, A. C. Roy, and S. C. Ng, "Association between estrogen receptor-? gene polymorphisms and ovulatory dysfunctions in patients with menstrual disorders," The Journal of Clinical Endocrinology & Metabolism, vol. 86, no. 1, pp. 135-139, 2001.
https://doi.org/10.1210/jc.86.1.135
[16] S. Ogawa et al., "Association of estrogen receptor ? gene polymorphism with bone mineral density," Biochemical and biophysical research communications, vol. 269, no. 2, pp. 537-541, 2000.
https://doi.org/10.1006/bbrc.2000.2285
[17] L. M. Rezende, F. A. L. Marson, C. S. P. Lima, and C. S. Bertuzzo, "Variants of estrogen receptor alpha and beta genes modify the severity of sporadic breast cancer," Gene, vol. 608, pp. 73-78, 2017.
https://doi.org/10.1016/j.gene.2017.01.010
[18] S. L. Zheng et al., "Joint effect of estrogen receptor ? sequence variants and endogenous estrogen exposure on breast cancer risk in Chinese women," Cancer research, vol. 63, no. 22, pp. 7624-7629, 2003.
[19] W. Wu, L. Abraham, J. Ogony, R. Matthews, G. Goldstein, and N. Ercal, "Effects of N-acetylcysteine amide (NACA), a thiol antioxidant on radiation-induced cytotoxicity in Chinese hamster ovary cells," Life sciences, vol. 82, no. 21-22, pp. 1122-1130, 2008.
https://doi.org/10.1016/j.lfs.2008.03.016
[20] A. M. G.-Z. Ladd et al., "Estrogen receptor ? polymorphisms and postmenopausal breast cancer risk," Breast cancer research and treatment, vol. 107, no. 3, pp. 415-419, 2008.
https://doi.org/10.1007/s10549-007-9562-3
[21] S. Jahandoost, P. Farhanghian, and S. Abbasi, "The effects of sex protein receptors and sex steroid hormone gene polymorphisms on breast cancer Risk," Journal of the National Medical Association, vol. 109, no. 2, pp. 126-138, 2017.
https://doi.org/10.1016/j.jnma.2017.02.003
[22] Y. Du, T. Yan, L. Zhou, W. Yin, and J. Lu, "A single-nucleotide polymorphism of the beta 2-adrenergic receptor gene can predict pathological complete response to taxane-and platinum-based neoadjuvant chemotherapy in breast cancer," Breast Cancer: Targets and Therapy, vol. 10, p. 201, 2018.
https://doi.org/10.2147/BCTT.S189197
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How to Cite
[1]
S. Abbasi and S. Kalbasi, “The association of codon 392 polymorphism in ESR2 gene with breast cancer in Iran”, KJAR, vol. 4, no. 3, pp. 243–248, Dec. 2019, doi: 10.24017/science.2019.ICHMS.26.
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05-12-2019
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