BRCA1 and BRCA2 Common Mutations in Iranian Breast Cancer Patients: a Meta Analysis

Forat-Yazdi, Mohammad; Neamatzadeh, Hossein; Sheikhha, Mohammad Hasan; Zare-Shehneh, Masoud; Fattahi, Mortaza

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자료유형: 학술저널

저자정보: Forat-Yazdi, Mohammad (Department of Internal Medicine, Shahid Sadoughi Hospital, Hematology, Oncology and Genetics Research Center, Shahid Sadoughi University of Medical Sciences) Neamatzadeh, Hossein (Department of Medical Genetics, Shahid Sadoughi Hospital, Hematology, Oncology and Genetics Research Center, Shahid Sadoughi University of Medical Sciences) Sheikhha, Mohammad Hasan (Department of Medical Genetics, Shahid Sadoughi Hospital, Hematology, Oncology and Genetics Research Center, Shahid Sadoughi University of Medical Sciences) Zare-Shehneh, Masoud (Department of Medical Genetics, Shahid Sadoughi Hospital, Hematology, Oncology and Genetics Research Center, Shahid Sadoughi University of Medical Sciences) Fattahi, Mortaza (Department of Cellular and Molecular Biology, Islamic Azad University Ashkzar Branch)

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제16권 제3호

발행연도: 2015.1

수록면: 1,219 - 1,224 (6page)

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Background: To date several common mutations in BRCA1 and BRCA2 associated with breast cancer have been reported in different populations. However, the common BRCA1 and BRCA2 mutations among breast cancer patients in Iran have not been described in detail. Materials and Methods: To comprehensively assess the frequency and distribution of the most common BRCA1 and BRCA2 mutations in Iranian breast cancer patients, we conducted this meta-analysis on 13 relevant published studies indentified in a literature search on PubMed and SID. Results: A total of 11 BRCA1 and BRCA2 distinct common mutations were identified, reported twice or more in the articles, of which 10 (c.2311T>C, c.3113A>G, c.4308T>C, c.4837A>G, c.2612C>T, c.3119G>A, c.3548A>G, c.5213G>A c.IVS16-92A/G, and c.IVS16-68A/G) mutations were in BRCA1, and 1 (c.4770A>G) was in BRCA2. The mutations were in exon 11, exon 13, intron 16, and exon 20 of BRCA1 and exon 11 of BRCA2. All have been previously reported in different populations. Conclusions: These meta analysis results should be helpful in understanding the possibility of any first true founder mutation of BRCA1/BRCA2 in the Iranian population. In addition, they will be of significance for diagnostic testing, genetic counseling and for epidemiological studies.

#Breast cancer #BRCA1 #BRCA2 #common mutations #Iran

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Forat-Yazdi, Mohammad

소속기관 Department of Internal Medicine, Internationl Campus, Shahid Sadoughi University of Medical Sciences