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Journal of Research in Medical Sciences، جلد ۲۱، شماره ۷، صفحات ۰-۰
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عنوان انگلیسی Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families
چکیده انگلیسی مقاله Background: Th e second leading cause of cancer deaths in women is breast cancer. Germline mutations in susceptibility breast cancer gene BRCA1 increase the lifetime risk of breast cancer. Eighty-one large genomic rearrangements (LGRs) have been reported up to date in BRCA1 gene, and evaluation of these rearrangements helps with precise risk assessment in high-risk individuals. In this study, we have investigated LGRs in BRCA1 among Iranian high-risk breast cancer families. Materials and Methods: Seventy patients with breast cancer who were identifi ed negative for point mutations or small deletions/insertions of BRCA1 gene were selected. Deletions and duplications of BRCA1 gene were evaluated using multiplex ligation-dependent probe amplifi cation (MLPA).Results: Two deletions, deletion of exons 1A/1B-2 and exon 24, were detected in two patients with breast cancer. Th e former alteration was found in a woman with a strong family history of breast cancer while the latter one was detected in a woman with early onset of breast cancer. Conclusion: Although our data confi rm that LGRs in BRCA1 comprise a relatively small proportion of mutations in hereditary breast cancer in the Iranian population, MLPA analysis might be considered for screening of LGRs in high-risk individuals.It is worth to note that our results are consistent with previous studies in various Asian and European countries.
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نویسندگان مقاله مریم صدقی | maryam sedghi


الهام اسفندیاری | elham esfandiari


عصمت فاضل نجف آبادی | esmat fazel najafabadi


منصور صالحی | mansoor salehi


عباس صلواتی | abbas salavaty


شیرین فتاح پور | shirin fattahpour


لیلا دهقانی | leila dehghani


نیره السادات نوری | nayerossadat nouri


فریبرز مکاریان | fariborz mokarian


نشانی اینترنتی http://jrms.mui.ac.ir/index.php/jrms/article/view/10518
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Original Articles
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