title: [Clinical and pathological characteristics and clinical course of patients with breast cancer and BRCA1/BRCA2 mutations].
abstract: BACKGROUND
  Clinico-pathological differences between BRCA1 or BRCA2 mutation-associated breast cancer (BC) and sporadic BC are little known.
  
  
  METHODS
  We analysed the clinico-pathological characteristics and clinical follow-up of 30 patients with BC. BRCA1 and BRCA2 mutations were detected by SSCP and PTT.
  
  
  RESULTS
  There were no differences in age, size or nodal status at the time of diagnosis. Mammography features were more heterogeneous in BRCA2 than in BRCA1 BC. All BRCA1 mutation-associated BC corresponded to infiltrating ductal carcinomas (20% medullary carcinomas) with a more aggressive pathological behavior. The frequency of local recurrences was 14% in BRCA1 and 20% in BRCA2. Contralateral BC and ovarian cancer (OC) were observed in 27% and 20% of BRCA1 cases, respectively, and 6% and 6% of BRCA2 cases. The median follow-up in BRCA1 and BRCA2 BC was 131 and 54 months, respectively.
  
  
  CONCLUSIONS
  There were no differences in age at diagnosis and stage between BRCA1 and BRCA2 breast cancer. The mammographic pattern in BRCA2 was more heterogeneous. BRCA1 mutations were associated with more aggressive histopathologic findings and a higher risk of a second BC and OC.
authors.affiliation: Oncología Médica. Hospital de la Santa Creu i Sant Pau. Barcelona.
authors.forename: C
authors.initials: C
authors.lastname: Pericay
authors.forename: O
authors.initials: O
authors.lastname: Díez
authors.forename: B
authors.initials: B
authors.lastname: Campos
authors.forename: J
authors.initials: J
authors.lastname: Balmaña
authors.forename: M
authors.initials: M
authors.lastname: Domènech
authors.forename: E
authors.initials: E
authors.lastname: Lerma
authors.forename: M
authors.initials: M
authors.lastname: Baena
authors.forename: J
authors.initials: J
authors.lastname: Maria Sabaté
authors.forename: A
authors.initials: A
authors.lastname: Gómez
authors.forename: J
authors.initials: J
authors.lastname: José López
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: C
authors.initials: C
authors.lastname: Alonso
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D018270:Carcinoma, Ductal, Breast / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D008875:Middle Aged; D009154:Mutation