title: Survival in hereditary breast cancer associated with germline mutations of BRCA2.
abstract: OBJECTIVE
  Breast cancer in BRCA1 and BRCA2 gene-mutation carriers may differ from so-called sporadic breast cancer in clinical features and behavior. These potential differences may be of importance for the prevention, screening, and, ultimately, treatment of breast cancer in women with such germline mutations. Thus far, there have been very few studies on the survival of BRCA2-associated breast cancer patients.
  
  
  METHODS
  We determined the disease-free and overall survival of 28 breast cancer patients from 14 consecutive families with eight different BRCA2 germline mutations. These patients' survival and tumor characteristics were compared with those of a control group of 112 sporadic breast cancer patients matched to them by age and year of diagnosis.
  
  
  RESULTS
  The 5-year disease-free survival was 52% for each group (P =.91); the overall survival was 74% for BRCA2 carriers and 75% for sporadic cases (P =.50). At the time of diagnosis, tumors from the BRCA2 carriers were borderline significantly larger in comparison to the tumors in sporadic cases (P =.05), but axillary nodal status was not significantly different in the two groups (node-negativity, 63% v 52. 8%, respectively; P =.34). With respect to steroid receptor status, BRCA2-associated tumors were more likely to be steroid receptor-positive, especially regarding progesterone receptor status (100% v 76.7% positive, respectively; P =.06). Stage-adjusted recurrence and death rates were nonsignificantly better for BRCA2 cases (hazard ratios of 0.84 and 0.59 [P =.61 and P =.19], respectively). In contrast, after 5 years, the rate of metachronous contralateral breast cancer in BRCA2 patients was 12% (v 2% in controls; P =.02).
  
  
  CONCLUSIONS
  Patients with hereditary breast cancer due to BRCA2 have a similar prognosis when compared with age-matched sporadic breast cancer patients. Contrary to our previous observation regarding BRCA1-associated breast cancer, BRCA2 tumors tended to be steroid receptor-positive, instead of steroid receptor-negative.
authors.affiliation: Family Cancer Clinic and Department of Medical Registration, Daniel den Hoed Cancer Center, University Hospital 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: G
authors.initials: G
authors.lastname: Dahmen
authors.forename: A N
authors.initials: AN
authors.lastname: van Geel
authors.forename: C C
authors.initials: CC
authors.lastname: Bartels
authors.forename: M M
authors.initials: MM
authors.lastname: Tilanus-Linthorst
authors.forename: A
authors.initials: A
authors.lastname: Wagner
authors.forename: P
authors.initials: P
authors.lastname: Devilee
authors.forename: D J
authors.initials: DJ
authors.lastname: Halley
authors.forename: A M
authors.initials: AM
authors.lastname: van den Ouweland
authors.forename: E J
authors.initials: EJ
authors.lastname: Meijers-Heijboer
authors.forename: J G
authors.initials: JG
authors.lastname: Klijn
mesh_terms: D000206:Actuarial Analysis; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000235:genetics* / Q000401:mortality; D016022:Case-Control Studies; D018572:Disease-Free Survival; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D011336:Probability; D016019:Survival Analysis; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors