Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families
Background: The 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 th...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2016-01-01
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| Series: | Journal of Research in Medical Sciences |
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| Online Access: | http://www.jmsjournal.net/article.asp?issn=1735-1995;year=2016;volume=21;issue=1;spage=95;epage=95;aulast=Sedghi |
| _version_ | 1818014482248499200 |
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| author | Maryam Sedghi Elham Esfandiari Esmat Fazel-Najafabadi Mansoor Salehi Abbas Salavaty Shirin Fattahpour Leila Dehghani Nayerossadat Nouri Fariborz Mokarian |
| author_facet | Maryam Sedghi Elham Esfandiari Esmat Fazel-Najafabadi Mansoor Salehi Abbas Salavaty Shirin Fattahpour Leila Dehghani Nayerossadat Nouri Fariborz Mokarian |
| author_sort | Maryam Sedghi |
| collection | DOAJ |
| description | Background: The 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 identified 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 amplification (MLPA). Results: Two deletions, deletion of exons 1A/1B-2 and exon 24, were detected in two patients with breast cancer. The 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 confirm 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. |
| first_indexed | 2024-04-14T06:45:51Z |
| format | Article |
| id | doaj.art-8654155a4a494c7295facd4f06c78169 |
| institution | Directory Open Access Journal |
| issn | 1735-1995 1735-7136 |
| language | English |
| last_indexed | 2024-04-14T06:45:51Z |
| publishDate | 2016-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Research in Medical Sciences |
| spelling | doaj.art-8654155a4a494c7295facd4f06c781692022-12-22T02:07:11ZengWolters Kluwer Medknow PublicationsJournal of Research in Medical Sciences1735-19951735-71362016-01-01211959510.4103/1735-1995.193167Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer familiesMaryam SedghiElham EsfandiariEsmat Fazel-NajafabadiMansoor SalehiAbbas SalavatyShirin FattahpourLeila DehghaniNayerossadat NouriFariborz MokarianBackground: The 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 identified 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 amplification (MLPA). Results: Two deletions, deletion of exons 1A/1B-2 and exon 24, were detected in two patients with breast cancer. The 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 confirm 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.http://www.jmsjournal.net/article.asp?issn=1735-1995;year=2016;volume=21;issue=1;spage=95;epage=95;aulast=SedghiBRCA1 gene breast cancerlarge genomic rearrangementsmultiplex ligation-dependent probe amplification |
| spellingShingle | Maryam Sedghi Elham Esfandiari Esmat Fazel-Najafabadi Mansoor Salehi Abbas Salavaty Shirin Fattahpour Leila Dehghani Nayerossadat Nouri Fariborz Mokarian Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families Journal of Research in Medical Sciences BRCA1 gene breast cancer large genomic rearrangements multiplex ligation-dependent probe amplification |
| title | Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families |
| title_full | Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families |
| title_fullStr | Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families |
| title_full_unstemmed | Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families |
| title_short | Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families |
| title_sort | genomic rearrangement screening of the brca1 from seventy iranian high risk breast cancer families |
| topic | BRCA1 gene breast cancer large genomic rearrangements multiplex ligation-dependent probe amplification |
| url | http://www.jmsjournal.net/article.asp?issn=1735-1995;year=2016;volume=21;issue=1;spage=95;epage=95;aulast=Sedghi |
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