title: Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk.
abstract: OBJECTIVE
  Women with a high breast cancer risk due to a familial predisposition may choose between preventive surgery and regular surveillance. The effectiveness of surveillance in high-risk women and especially BRCA1/2 mutation carriers is unknown. We present first results from a single large family cancer clinic.
  
  
  METHODS
  Women with breast cancer risk over 15% were examined by physical examination every 6 months and mammography every year. Detection rates and screening parameters were calculated for the total group and separately for different age and genetic risk groups.
  
  
  RESULTS
  At least one examination was performed in 1,198 women: 449 moderate and 621 high-risk women and 128 BRCA1/2 mutation carriers. Within a median follow-up of 3 years, 35 breast cancers were detected (four ductal carcinoma-in-situ; 31 invasive tumors); the average detection rate was 9.7 per 1,000. Detection rates (95% confidence interval) for moderate and high-risk women and BRCA1/2 carriers were 3.3 (1.1 to 8.6), 8.4 (5.4 to 13.2), and 33 (17 to 63) per 1,000 person-years, respectively. The ratio of observed cases versus breast cancers expected in an average-risk population of comparable age was 2.7, 7.0 and 23.7 respectively. Overall, node negativity was 65%; 34% of primary tumors were less than 10 mm; sensitivity was 74%. Results with respect to tumor stage and sensitivity were less favorable in BRCA1/2 carriers and in women under the age of 40.
  
  
  CONCLUSIONS
  It is possible to identify young women at high risk for breast cancer. The number of cancers detected was significantly greater than expected in an age-matched average-risk population and related to the risk category. Overall, screening parameters were comparable to population screening data, with less favorable results in the youngest age group (< 40) and BRCA1/2 carriers.
authors.affiliation: Department of Medical Oncology, Family Cancer Clinic, Dr Daniel den Hoed Cancer Center, Rotterdam, the Netherlands. brekelmans@onch.azr.nl
authors.forename: C T
authors.initials: CT
authors.lastname: Brekelmans
authors.forename: C
authors.initials: C
authors.lastname: Seynaeve
authors.forename: C C
authors.initials: CC
authors.lastname: Bartels
authors.forename: M M
authors.initials: MM
authors.lastname: Tilanus-Linthorst
authors.forename: E J
authors.initials: EJ
authors.lastname: Meijers-Heijboer
authors.forename: C M
authors.initials: CM
authors.lastname: Crepin
authors.forename: A A
authors.initials: AA
authors.lastname: van Geel
authors.forename: M
authors.initials: M
authors.lastname: Menke
authors.forename: L C
authors.initials: LC
authors.lastname: Verhoog
authors.forename: A
authors.initials: A
authors.lastname: van den Ouweland
authors.forename: I M
authors.initials: IM
authors.lastname: Obdeijn
authors.forename: J G
authors.initials: JG
authors.lastname: Klijn
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D006579:Heterozygote; D006801:Humans; D008327:Mammography; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D012306:Risk; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors