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    • Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients 

      Hagag, E.; Shwaireb, M.; Coffa, J.; El Wakil, A. (‎2013)‎
      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 ...