Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): Interim results

Purpose: To prospectively compare clinical breast examination ( CBE), mammography, ultrasonography ( US), and contrast material-enhanced magnetic resonance ( MR) imaging for screening women at genetic-familial high risk for breast cancer and report interim results, with pathologic findings as standard. Materials and Methods: Institutional review board of each center approved the research; informed written consent was obtained. CBE, mammography, US, and MR imaging were performed for yearly screening of BRCA1 or BRCA2 mutation carriers, first-degree relatives of BRCA1 or BRCA2 mutation carriers, or women enrolled because of a strong family history of breast or ovarian cancer ( three or more events in first- or second-degree relatives in either maternal or paternal line; these included breast cancer in women younger than 60 years, ovarian cancer at any age, and male breast cancer at any age). Results: Two hundred seventy-eight women ( mean age, 46 years +/- 12 [ standard deviation]) were enrolled. Breast cancer was found in 11 of 278 women at first round and seven of 99 at second round ( 14 invasive, four intraductal; eight were <= 10 mm in diameter). Detection rate per year was 4.8% ( 18 of 377) overall; 4.3% ( 11 of 258) in BRCA1 or BRCA2 mutation carriers and first- degree relatives of BRCA1 or BRCA2 mutation carriers versus 5.9% ( seven of 119) in women enrolled because of strong family history; and 5.3% ( nine of 169) in women with previous personal breast and/or ovarian cancer versus 4.3% ( nine of 208) in those without. In six ( 33%) of 18 patients, cancer was detected only with MR imaging. Sensitivity was as follows: CBE, 50% ( 95% confidence interval [ CI]: 29%, 71%); mammography, 59% ( 95% CI: 36%, 78%); US, 65% ( 95% CI: 41%, 83%); and MR imaging, 94% ( 95% CI: 82%, 99%). Positive predictive value was as follows: CBE, 82% ( 95% CI: 52%, 95%); mammography, 77% ( 95% CI: 50%, 92%); US, 65% ( 95% CI: 41%, 83%); and MR imaging, 63% ( 95% CI: 43%, 79%). Conclusion: Addition of MR imaging to the screening regimen for high-risk women may enable detection of otherwise unsuspected breast cancers.