Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results

Radiology. 2000 Apr;215(1):267-79. doi: 10.1148/radiology.215.1.r00ap01267.


Purpose: To compare magnetic resonance (MR) imaging with conventional imaging in screening high-risk women.

Materials and methods: This prospective trial included 192 asymptomatic and six symptomatic women who, on the basis of personal or family history or genetic analysis, were suspected or proved to carry a breast cancer susceptibility gene.

Results: Fifteen breast cancers were identified: nine in the 192 asymptomatic women (six in the first and three in the second screening round) and six in the symptomatic patients. Concerning the asymptomatic women, four of the nine breast cancers were detected and correctly classified with mammography and ultrasonography (US) combined; another two cancers were visible as well-circumscribed masses and were diagnosed as fibroadenomas. MR imaging allowed the correct classification and local staging of all nine cancers. In 105 asymptomatic women with validation of the 1st-year screening results, the sensitivities of mammography, US, and MR imaging were 33%, 33% (mammography and US combined, 44%), and 100%, respectively; the positive predictive values were 30%, 12%, and 64%, respectively.

Conclusion: The accuracy of MR imaging is significantly higher than that of conventional imaging in screening high-risk women. Difficulties can be caused by an atypical manifestation of hereditary breast cancers at both conventional and MR imaging and by contrast material enhancement associated with hormonal stimulation.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • BRCA2 Protein
  • Bayes Theorem
  • Biopsy
  • Breast / pathology*
  • Breast Neoplasms / classification
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Cohort Studies
  • Female
  • Fibroadenoma / diagnosis
  • Follow-Up Studies
  • Genes, BRCA1 / genetics
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease*
  • Heterozygote*
  • Humans
  • Magnetic Resonance Imaging*
  • Mammography
  • Mass Screening*
  • Middle Aged
  • Neoplasm Proteins / genetics
  • Neoplasm Staging
  • Predictive Value of Tests
  • Prospective Studies
  • Reproducibility of Results
  • Risk Factors
  • Sensitivity and Specificity
  • Transcription Factors / genetics
  • Ultrasonography, Mammary


  • BRCA2 Protein
  • Genetic Markers
  • Neoplasm Proteins
  • Transcription Factors