title: Large genomic BRCA2 rearrangements and male breast cancer.
abstract: BACKGROUND
  Germ-line mutations of the BRCA2 gene are the highest known risk factors for male breast cancer (MBC). Mutations in BRCA2 are mainly point mutations in contrast to BRCA1 in which large genomic rearrangements are quite common. In recent literature, however, genomic alterations of BRCA2 have been linked especially to male breast cancer families. We wanted to screen large genomic deletions and duplications of BRCA2 among Finnish male breast cancer patients.
  
  
  METHODS
  We used multiplex ligation-dependent probe amplification (MLPA) to detect large genomic rearrangements in the BRCA2 gene among 36 unselected Finnish male breast cancer patients previously tested and found negative for Finnish BRCA1 and BRCA2 founder mutations.
  
  
  RESULTS
  No genomic mutations of BRCA2 nor CHEK2*1100delC point mutations, also included in the assay, were found in this study.
  
  
  CONCLUSIONS
  Large genomic BRCA2 rearrangements were not found among our 36 Finnish male breast cancer patients. Screening of large BRCA2 rearrangements is not likely to be advantageous in Finland.
authors.affiliation: Laboratory of Cancer Genetics, Tampere University Hospital and Institute of Medical Technology, University of Tampere, Teiskontie 35, FIN-33520 Tampere, Finland. ritva.karhu@uta.fi
authors.forename: Ritva
authors.initials: R
authors.lastname: Karhu
authors.forename: Eeva
authors.initials: E
authors.lastname: Laurila
authors.forename: Anne
authors.initials: A
authors.lastname: Kallioniemi
authors.forename: Kirsi
authors.initials: K
authors.lastname: Syrjäkoski
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018567:Breast Neoplasms, Male / Q000235:genetics* / Q000517:prevention & control; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D015342:DNA Probes; D005387:Finland; D015321:Gene Rearrangement; D024522:Genes, BRCA2; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques / Q000379:methods
chemical_list: D015342:DNA Probes