genomic rearrangement screening of the brca1 from seventy iranian high-risk breast cancer families

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.