title: The prevalence of germline BRCA1 and BRCA2 mutations in young women with breast cancer undergoing breast-conservation therapy.
abstract: BACKGROUND
  Germline mutations of BRCA1 and BRCA2 increase the risk for breast cancer. Mutation carriers selecting breast-conservation therapy (BCT) for treatment of operable breast cancer experience a higher rate of new primary breast cancers. We sought to determine the frequency of BRCA1/BRCA2 mutations in women who underwent BCT. Genetic testing results were compared with the prior probability of mutations in either gene.
  
  
  METHODS
  Eighty-nine patients age 39 or younger entered the study. Genetic testing was performed for BRCA1 and BRCA2 and the BRCAPRO model determined the probability of carrying a mutation.
  
  
  RESULTS
  Eight mutations were discovered (prevalence, 9.0%). Twenty (22%) uncharacterized sequence variants were found. The prior probability of carrying a mutation was 14%. Mutation carriers had a higher prior probability (.49) compared with women with uncharacterized variants (.09) or with normal genes (.11).
  
  
  CONCLUSIONS
  BRCA1 and BRCA2 mutations are common (9%) among unselected young breast cancer patients undergoing BCT.
authors.affiliation: Department of Surgery, Brigham and Women's Hospital, Harvard Medical School, 75 Francis St., Boston, MA 02115, USA. mgolshan@partners.org
authors.forename: Mehra
authors.initials: M
authors.lastname: Golshan
authors.forename: Alex
authors.initials: A
authors.lastname: Miron
authors.forename: Asa J
authors.initials: AJ
authors.lastname: Nixon
authors.forename: Judy E
authors.initials: JE
authors.lastname: Garber
authors.forename: Ethan P
authors.initials: EP
authors.lastname: Cash
authors.forename: James Dirk
authors.initials: JD
authors.lastname: Iglehart
authors.forename: Jay R
authors.initials: JR
authors.lastname: Harris
authors.forename: Julia S
authors.initials: JS
authors.lastname: Wong
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000601:surgery; D004273:DNA, Neoplasm / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D019398:Genes, BRCA1; D018095:Germ-Line Mutation; D006801:Humans; D015412:Mastectomy, Segmental; D015995:Prevalence; D011379:Prognosis; D012189:Retrospective Studies
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm