title: Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 mutation carriers.
abstract: BACKGROUND
  This study aimed at evaluating the efficacy of ultrasound for the early detection of breast cancers in BRCA1/2 mutation carriers.
  
  
  METHODS
  Between 01/1997 and 10/2008 221 BRCA1/2 mutation carriers participated in a breast cancer screening program which included semi-annual ultrasound in combination with annual mammography and magnetic resonance imaging (MRI). Women underwent on average (median) five semi-annual screening rounds with a range of one to 22 appointments, totaling 1,855 rounds of screening. All three imaging modalities were coded according to the American College of Radiology (BI-RADS classification).
  
  
  RESULTS
  In total, we detected 27 BRCA-associated breast cancers in 25 patients. The sensitivity was 77% for ultrasound, 27% for mammography, and 100% for MRI. Three tumors were detected directly as a result of only the semi-annual ultrasound screen.
  
  
  CONCLUSIONS
  Due to the specific tumor morphology and the considerably elevated tumor doubling time, mutation carriers benefit from the addition of semi-annual ultrasound screening as a sensitive and cost-effective method.
authors.affiliation: Center for Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany, kristin.bosse@med.uni-tuebingen.de.
authors.forename: Kristin
authors.initials: K
authors.lastname: Bosse
authors.forename: Monika
authors.initials: M
authors.lastname: Graeser
authors.forename: Axel
authors.initials: A
authors.lastname: Goßmann
authors.forename: Matthias
authors.initials: M
authors.lastname: Hackenbroch
authors.forename: Rita K
authors.initials: RK
authors.lastname: Schmutzler
authors.forename: Kerstin
authors.initials: K
authors.lastname: Rhiem
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D003362:Cost-Benefit Analysis; D055088:Early Detection of Cancer; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008327:Mammography; D008875:Middle Aged; D009154:Mutation; D060787:Neoplasm Grading; D009361:Neoplasm Invasiveness; D009367:Neoplasm Staging; D011446:Prospective Studies; D012680:Sensitivity and Specificity; D016217:Ultrasonography, Mammary / Q000706:statistics & numerical data*