title: Distant disease-free interval, site of first relapse and post-relapse survival in BRCA1- and BRCA2-associated compared to sporadic breast cancer patients.
abstract: BACKGROUND
  Data on distant disease-free interval (DDFI) and the localization of the first distant metastasis (DM) in BRCA1- and BRCA2-associated breast cancer (BC) patients are as yet scarcely available.
  
  
  METHODS
  We identified 57 BRCA1-associated and 31 BRCA2-associated BC patients, diagnosed between 1980 and 2001, and developing DM disease before 2004, July 1. DDFI, the site(s) of first DM and post-relapse survival of these patients were compared with those of 192 sporadic BC patients.
  
  
  RESULTS
  As compared to sporadic patients, BRCA1 patients developed less often bone DM (30% vs. 51%; P = 0.005), but tended to develop more often lung DM (26% vs. 16%; P = 0.07), and DM at multiple sites (44% vs. 32%; P = 0.11). In BRCA2-associated compared to sporadic patients, first DM more commonly occurred in lymph nodes (23% vs. 7%; P = 0.007) and at multiple sites (48% vs. 32%; P = 0.08). Adjuvant systemic therapy appeared to be most effective in BRCA2 mutation carriers. Post-relapse survival was worse for BRCA1- and better for BRCA2-associated patients as compared to sporadic patients, but differences disappeared after adjustment for ER-status, site of first DM and DDFI.
  
  
  CONCLUSIONS
  The site of first DM is different between BRCA1- and BRCA2-associated and sporadic BC patients. Differences in post-relapse survival could be explained by differences in site of first DM, in ER-status and in DDFI. Treatment efficacy may differ dependent on genetic status.
authors.affiliation: Department of Medical Oncology, Rotterdam Family Cancer Clinic, Erasmus MC-Daniel den Hoed Cancer Center, Groene Hilledijk 301, 3075 EA, Rotterdam, The Netherlands. a.kriege@erasmusmc.nl
authors.forename: Mieke
authors.initials: M
authors.lastname: Kriege
authors.forename: Caroline
authors.initials: C
authors.lastname: Seynaeve
authors.forename: Hanne
authors.initials: H
authors.lastname: Meijers-Heijboer
authors.forename: J Margriet
authors.initials: JM
authors.lastname: Collee
authors.forename: Marian B E
authors.initials: MB
authors.lastname: Menke-Pluymers
authors.forename: Carina C M
authors.initials: CC
authors.lastname: Bartels
authors.forename: Madeleine M A
authors.initials: MM
authors.lastname: Tilanus-Linthorst
authors.forename: Ans
authors.initials: A
authors.lastname: van den Ouweland
authors.forename: Bert
authors.initials: B
authors.lastname: van Geel
authors.forename: Cecile T M
authors.initials: CT
authors.lastname: Brekelmans
authors.forename: Jan G M
authors.initials: JG
authors.lastname: Klijn
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics / Q000401:mortality* / Q000473:pathology; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009362:Neoplasm Metastasis; D011960:Receptors, Estrogen / Q000032:analysis
chemical_list: D011960:Receptors, Estrogen