Genomic Rearrangement Screening of the Brca1 From Seventy Iranian High-Risk Breast Cancer Families Publisher



Sedghi M^{1, 2} ; Esfandiari E¹ ; Najafabadi EF¹ ; Salehi M^{1, 3} ; Salavaty A¹ ; Fattahpour S¹ ; Dehghani L^{4, 5} ; Nouri N^{1, 2} ; Mokarian F⁶
Source: Journal of Research in Medical Sciences Published:2016

Abstract

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. © 2016 Journal of Research in Medical Sciences.