Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families

• Published in: Journal of research in medical sciences Vol. 21; no. 1; p. 95
• Main Authors: Sedghi, Maryam, Esfandiari, Elham, Fazel-Najafabadi, Esmat, Salehi, Mansoor, Salavaty, Abbas, Fattahpour, Shirin, Dehghani, Leila, Nouri, Nayerossadat, Mokarian, Fariborz
• Format: Journal Article
• Language: English
• Published: India Medknow Publications and Media Pvt. Ltd 01.01.2016; Medknow Publications & Media Pvt Ltd; Wolters Kluwer Medknow Publications
• Subjects: Analysis; BRCA1 gene; Breast cancer; Care and treatment; Gene mutation; large genomic rearrangements; multiplex ligation-dependent probe amplification; Original; Risk assessment; Tumor suppressor genes; large genomic rearrangements; breast cancer; BRCA1 gene; multiplex ligation-dependent probe amplification
• ISSN: 1735-1995; 1735-1995; 1735-7136
• DOI: 10.4103/1735-1995.193167

The second leading cause of cancer deaths in women is breast cancer. Germline mutations in susceptibility breast cancer gene increase the lifetime risk of breast cancer. Eighty-one large genomic rearrangements (LGRs) have been reported up to date in gene, and evaluation of these rearrangements helps with precise risk assessment in high-risk individuals. In this study, we have investigated LGRs in among Iranian high-risk breast cancer families. Seventy patients with breast cancer who were identified negative for point mutations or small deletions/insertions of gene were selected. Deletions and duplications of gene were evaluated using multiplex ligation-dependent probe amplification (MLPA). 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. Although our data confirm that LGRs in 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.