title: A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.
abstract: BACKGROUND
  Germline mutations in either of the two tumor-suppressor genes, BRCA1 and BRCA2, account for a significant proportion of hereditary breast and ovarian cancer cases. Most of these mutations consist of deletions, insertions, nonsense mutations, and splice variants, however an increasing number of large genomic rearrangements have been identified in these genes.
  
  
  METHODS
  We analysed BRCA1 and BRCA2 genes by direct sequencing and MLPA. We confirmed the results by an alternative MLPA kit and characterized the BRCA1 deletion by Array CGH.
  
  
  RESULTS
  We describe the first case of a patient with no strong family history of the disease who developed early-onset bilateral breast cancer with a de novo complete BRCA1 gene deletion in the germinal line. The detected deletion started from the region surrounding the VAT1 locus to the beginning of NBR1 gene, including the RND2, ΨBRCA1, BRCA1 and NBR2 complete genes.
  
  
  CONCLUSIONS
  This finding supports the large genomic rearrangement screening of BRCA genes in young breast cancer patients without family history, as well as in hereditary breast and ovarian cancer families previously tested negative for other variations.
authors: Laboratory of Molecular Biology, Fundación Instituto Valenciano de Oncología, Valencia, Spain.
authors: Zaida
authors: Z
authors: Garcia-Casado
authors: Ignacio
authors: I
authors: Romero
authors: Antonio
authors: A
authors: Fernandez-Serra
authors: Luis
authors: L
authors: Rubio
authors: Francisco
authors: F
authors: Llopis
authors: Ana
authors: A
authors: Garcia
authors: Pilar
authors: P
authors: Llombart
authors: Jose A
authors: JA
authors: Lopez-Guerrero
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D017353:Gene Deletion; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D008297:Male; D010375:Pedigree