title: Population-based study of risk of breast cancer in carriers of BRCA2 mutation.
abstract: BACKGROUND
  Estimates of an 80-90% risk of breast cancer for carriers of germline mutations in the BRCA1 and BRCA2 genes are based on studies of families at high risk of breast cancer. Risk estimates for a population are possible if the mutation status of a representative sample of that population can be assessed. In Iceland, one common founder BRCA2 mutation occurs in 0.6% of the population. Iceland has a population-based cancer registry and a large collection of pedigrees, and estimation of cancer risk in mutation carriers is therefore possible.
  
  
  METHODS
  We studied 575 breast-cancer patients, 541 women and 34 men unselected for family history of breast cancer. Data on cancer in first-degree relatives were available from the cancer registry. Risk of cancer was estimated by comparing the history of cancer in first-degree relatives of carriers and non-carriers.
  
  
  RESULTS
  56 (10.4%) of the 541 women and 13 (38%) of the 34 men carried the 999del5 mutation. The estimated risk of breast cancer at age 50 for all female carriers of the 999del5 mutation was 17.0% (95% CI 9.1-25.9) and 37.2% (22.4-53.9) at age 70.
  
  
  CONCLUSIONS
  The results of our population-based study show that the mean risk of breast cancer in carriers of mutation in BRCA2 is lower than previously suggested. Individual risk assessment will, however, have to take account of family history.
authors.affiliation: Molecular and Cell Biology Research Laboratory, Icelandic Cancer Society, Reykjavik.
authors.forename: S
authors.initials: S
authors.lastname: Thorlacius
authors.forename: J P
authors.initials: JP
authors.lastname: Struewing
authors.forename: P
authors.initials: P
authors.lastname: Hartge
authors.forename: G H
authors.initials: GH
authors.lastname: Olafsdottir
authors.forename: H
authors.initials: H
authors.lastname: Sigvaldason
authors.forename: L
authors.initials: L
authors.lastname: Tryggvadottir
authors.forename: S
authors.initials: S
authors.lastname: Wacholder
authors.forename: H
authors.initials: H
authors.lastname: Tulinius
authors.forename: J E
authors.initials: JE
authors.lastname: Eyfjörd
mesh_terms: D000368:Aged; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000453:epidemiology / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007055:Iceland / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics* / Q000302:isolation & purification; D010375:Pedigree; D011159:Population Surveillance / Q000379:methods*; D011471:Prostatic Neoplasms / Q000235:genetics; D012042:Registries; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics* / Q000302:isolation & purification
chemical_list: D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors