title: Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients.
abstract: Approximately 5%-10% of all breast cancers are inherited as the result of germline mutations in the BRCAl 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>or=45 years and having BRCAl-positive LGRs. However, focusing on cases with first- and second-degree relatives affected, we observed a significant difference between the percentage of patients with BRCA1-positive versus BRCAl-negative LGRs. Our results provide the first evidence that LGRs in BRCA1 exist in the Egyptian population. Screening for these alterations may be desirable when breast cancer patients are diagnosed at an early age, especially if these cases have first- and second-degree of relatives with breast cancer.
authors.affiliation: Department of Biological and Geological Sciences, Faculty of Education, University ofAlexandria, Alexandria, Egypt.
authors.forename: E
authors.initials: E
authors.lastname: Hagag
authors.forename: M
authors.initials: M
authors.lastname: Shwaireb
authors.forename: J
authors.initials: J
authors.lastname: Coffa
authors.forename: A
authors.initials: A
authors.lastname: El Wakil
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D004534:Egypt / Q000453:epidemiology; D005192:Family Health / Q000706:statistics & numerical data*; D005260:Female; D019398:Genes, BRCA1; D005820:Genetic Testing / Q000379:methods* / Q000706:statistics & numerical data; D006801:Humans; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods / Q000706:statistics & numerical data