Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 mutation carriers

Arch Gynecol Obstet. 2014 Mar;289(3):663-70. doi: 10.1007/s00404-013-3022-6. Epub 2013 Sep 18.


Introduction: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Breast Neoplasms / diagnostic imaging*
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Cost-Benefit Analysis
  • Early Detection of Cancer
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Heterozygote
  • Humans
  • Magnetic Resonance Imaging
  • Mammography
  • Middle Aged
  • Mutation
  • Neoplasm Grading
  • Neoplasm Invasiveness
  • Neoplasm Staging
  • Prospective Studies
  • Sensitivity and Specificity
  • Ultrasonography, Mammary / statistics & numerical data*