title: Large genomic rearrangement in BRCA1 and BRCA2 and clinical characteristics of men with breast cancer in the United States.
abstract: OBJECTIVE
  Male breast cancer has been linked extensively to mutations of BRCA2 and, to a lesser extent, BRCA1. The aim of this study was to perform a comprehensive analysis of point mutations and genomic rearrangements in the BRCA1 and BRCA2 genes in 41 men with breast cancer.
  
  
  METHODS
  Deleterious point mutations were identified in 15 men (37%): 4 (10%) and 11 (27%) in BRCA1 and BRCA2, respectively. In the remaining 26 men, we screened for large genomic rearrangements in BRCA1 and BRCA2 using multiplex ligation-dependent probe amplification.
  
  
  RESULTS
  We did not detect any large genomic rearrangements. Men with BRCA1 or BRCA2 mutations were more likely to have a family history of prostate cancer (P = 0.025). Three of 4 male breast tumors with BRCA1 mutations (75%) were estrogen receptor positive. Whereas some studies have reported an 8%-0 rate of large BRCA2 genomic rearrangement in familial male breast cancer cases, we did not detect any such genomic rearrangements in BRCA1 or BRCA2 for our cohort.
  
  
  CONCLUSIONS
  Despite this negative finding, our study, to the best of our knowledge, is one of the first to comprehensively screen for mutations, including large genomic rearrangement mutations, in BRCA1 and BRCA2 in men with breast cancer in the United States.
authors.affiliation: Department of Surgery, Abramson Cancer Center, USA.
authors.forename: Julia
authors.initials: J
authors.lastname: Tchou
authors.forename: M Renee
authors.initials: MR
authors.lastname: Ward
authors.forename: Patricia
authors.initials: P
authors.lastname: Volpe
authors.forename: Maurizia Dalla
authors.initials: MD
authors.lastname: Palma
authors.forename: C Angelina
authors.initials: CA
authors.lastname: Medina
authors.forename: Michael
authors.initials: M
authors.lastname: Sargen
authors.forename: Seema S
authors.initials: SS
authors.lastname: Sonnad
authors.forename: Andrew K
authors.initials: AK
authors.lastname: Godwin
authors.forename: Mary
authors.initials: M
authors.lastname: Daly
authors.forename: David J
authors.initials: DJ
authors.lastname: Winchester
authors.forename: Judy
authors.initials: J
authors.lastname: Garber
authors.forename: Barbara L
authors.initials: BL
authors.lastname: Weber
authors.forename: Susan
authors.initials: S
authors.lastname: Domchek
authors.forename: Katherine L
authors.initials: KL
authors.lastname: Nathanson
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018567:Breast Neoplasms, Male / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D007585:Jews / Q000235:genetics / Q000706:statistics & numerical data; D008297:Male; D008875:Middle Aged; D009154:Mutation; D014481:United States / Q000453:epidemiology