title: Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1.
abstract: BACKGROUND
  Hereditary breast cancer has been associated with mutations in the BRCA1 and BRCA2 genes and has a natural history different from sporadic breast cancer. We investigated disease-free and overall survival for patients with a proven BRCA1 alteration.
  
  
  METHODS
  We estimated disease-free and overall survival for 49 Dutch patients from 19 consecutive families with a proven specific BRCA1 mutation and one family with strong evidence for linkage to the BRCA1 gene. We compared clinical outcome and data on tumour size, histology, axillary nodal status, contralateral breast cancer, and oestrogen-receptor and progesterone-receptor status with those of 196 patients with sporadic breast cancer, matched for age and year of diagnosis.
  
  
  RESULTS
  Disease-free survival for BRCA1 and sporadic patients at 5 years was 49% (95% CI 33-64) and 51% (43-59), respectively (p=0.98). Overall survival at 5 years was 63% (47-76) and 69% (62-76), respectively (p=0.88). Recurrence and death rates did not differ significantly between groups. Hazard ratios for recurrence and death among BRCA1 patients were 1.00 (0.65-1.55) and 1.04 (0.63-1.71) relative to sporadic patients (p=0.88), and these did not differ significantly after adjustment for prognostic factors. Patients with BRCA1-associated breast cancer had twice as many progesterone-receptor-negative tumours (p<0.005) and development of contralateral breast cancer was four to five times as frequent as in the sporadic group (p<0.001).
  
  
  CONCLUSIONS
  We showed that disease-free and overall survival were similar for sporadic and hereditary breast cancer in the presence of different tumour characteristics, which has implications for screening prophylactic therapy, and different treatments of hereditary breast cancer.
authors.affiliation: Family Cancer Clinic, Rotterdam, The Netherlands.
authors.forename: L C
authors.initials: LC
authors.lastname: Verhoog
authors.forename: C T
authors.initials: CT
authors.lastname: Brekelmans
authors.forename: C
authors.initials: C
authors.lastname: Seynaeve
authors.forename: L M
authors.initials: LM
authors.lastname: van den Bosch
authors.forename: G
authors.initials: G
authors.lastname: Dahmen
authors.forename: A N
authors.initials: AN
authors.lastname: van Geel
authors.forename: M M
authors.initials: MM
authors.lastname: Tilanus-Linthorst
authors.forename: C C
authors.initials: CC
authors.lastname: Bartels
authors.forename: A
authors.initials: A
authors.lastname: Wagner
authors.forename: A
authors.initials: A
authors.lastname: van den Ouweland
authors.forename: P
authors.initials: P
authors.lastname: Devilee
authors.forename: E J
authors.initials: EJ
authors.lastname: Meijers-Heijboer
authors.forename: J G
authors.initials: JG
authors.lastname: Klijn
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics* / Q000401:mortality / Q000473:pathology* / Q000517:prevention & control; D018572:Disease-Free Survival; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D016017:Odds Ratio; D011379:Prognosis; D012306:Risk; D016019:Survival Analysis