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This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 
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:: Volume 20, Issue 7 (7-2018) ::
J Babol Univ Med Sci. 2018; Volume 20 Back to browse issues page
Investigation of Mutations of Exon 11-A of BRCA1 Gene in Women with Breast Cancer in the Northwest of Iran
MA HosseinpourFeizi , S Dianati , A Samir , N Dastmalchi , N Pouladi *
5. Department of Biology, Faculty of Sciences, Azarbaijan Shahid Madani University, Tabriz, I.R.Iran , srna52@gmail.com
Abstract:   (3739 Views)
BACKGROUND AND OBJECTIVE: Breast cancer is the most common cancer in women, which is associated with genetic changes such as mutations in carcinogenic genes and tumor suppressor genes. One of the most important tumor suppressor genes involved in breast cancer is the BRCA1 gene. The mutation in this gene is a common occurrence in human breast cancer. The purpose of this study is to investigate the mutations of exon 11-A of BRCA1 gene in women with breast cancer in the northwest of Iran.
METHODS: In this descriptive study, blood sample were collected form 40 patients with breast cancer whose cancer was diagnosed before the age of 40 years and the exon 11-A of BRCA1 gene was examined using PCR and direct sequencing methods to detect mutations. Sequencing results were analyzed using Chromas software.
FINDING: In the present study, a nonsynonymous mutation was reported as a new mutation of BRCA1 gene for the first time: Ala584Thr mutation was also observed in two samples. The mutations of codon 694 (Ser694Ser) showed a higher incidence (52.5%). Other mutations were observed in codons 693, 356, 486, 550 and 628.
CONCLUSION: Based on the results of this study, mutations and polymorphisms of exon 11 of BRCA1 gene were observed for the first time in the northwestern population of Iran. One new case of mutation was observed in exon 11-A of BRCA1 gene.
Keywords: Breast cancer, BRCA1, Exon 11-A, mutation
Full-Text [PDF 144 kb]   (1166 Downloads)    
Type of Study: Dicscriptive | Subject: Genetics, Cell and Molecular Biology
Received: 2017/09/21 | Accepted: 2018/07/8 | Published: 2018/07/23
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HosseinpourFeizi M, Dianati S, Samir A, Dastmalchi N, Pouladi N. Investigation of Mutations of Exon 11-A of BRCA1 Gene in Women with Breast Cancer in the Northwest of Iran . J Babol Univ Med Sci 2018; 20 (7) :28-32
URL: http://jbums.org/article-1-7138-en.html


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Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Volume 20, Issue 7 (7-2018) Back to browse issues page
مجله علمی دانشگاه علوم پزشکی بابل Journal of Babol University of Medical Sciences

The Journal of Babol University of Medical Sciences is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
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