RESUMEN
INTRODUCTION: Breast cancer is one of the most widespread cancers affecting women all over the world. In Egypt, it is considered to be the first cause of malignancies among female. BRCA1 Large Genomic Rearrangements (LGRs) have been reported in hereditary breast families and occurs in considerable proportion of cases in various populations. OBJECTIVE AND METHODS: We investigated the incidence of BRCA1 LGRs in group of Egyptian females with breast cancer using Multiplex Ligation-dependent Probe Amplification (MLPA) assay. RESULTS: Thirty six female breast cancer patients were included in this study. There were no BRCA1 LGRs detected in the studied group of patients which does not coincide with other study that were done on a group of Egyptian female patients. DISCUSSION AND CONCLUSION: This variance may be due to the small number of the investigated patients in both studies, which is considered as a limitation. So, screening for LGRs of BRCA1 gene as well as other genes that may be involved in breast cancer such as BRCA2 and CHEK2 genes of a larger number of patients is recommended to get the actual prevalence of these gene in the Egyptian population to deliver a cost-effective primary approach for these patients.