Approximately 5%-10% of all breast cancers are inherited as the result of germline mutations in the BRCA1 gene. Large genomic rearrangements [‎LGRs]‎ in BRCA1 have not been well-researched in the Egyptian population. Using multiplex ligation-dependent probe amplification, we showed BRCA1 rearrangements in 4/22 cases [‎18.2%]‎ of familial breast cancer. No influence of having multiple breast cancer cases within the family was observed in patients diagnosed at < or >/= 45 years and having BRCA1-positive LGRs. However, focusing on cases with first- and ...