Francesco Sardanelli MD, Presenter: Consultant, Bracco Group

Franca Podo PhD, Abstract Co-Author: Nothing to Disclose

Flippo Santoro DSc, Abstract Co-Author: Nothing to Disclose

Siranaoush Manoukian MD, Abstract Co-Author: Nothing to Disclose

Luca Alessandro Carbonaro MD, Abstract Co-Author: Nothing to Disclose

Alessandro Del Maschio MD, Abstract Co-Author: Nothing to Disclose

To prospectively compare clinical breast examination (CBE), mammography, ultrasonography (US), and contrast-enhanced magnetic resonance imaging (MRI) for screening women at genetic-familial high risk for breast cancer.

IRB approval from each Center and informed written consent were obtained. CBE, mammography, US, and MRI were performed for yearly screening of BRCA1 or BRCA2 mutation carriers (BRCA+) or 1st degree relatives of BRCA1 or BRCA2 mutation carriers (BRCA+FDR), or women enrolled on the only basis of a strong family history (SFH) of breast or ovarian cancer (three or more events in 1st or 2nd degree relatives in either maternal or paternal line; these included breast cancer in women younger than 60 years and ovarian cancer or male breast cancer at any age). Pathologic examination or at least one-year negative follow-up served as reference standard.

From June 2000 to April 2008, 505 women underwent 1,582 rounds (3.1 rounds/woman) in 19 centers. They had a mean age at entry of 46±12 years (mean ± standard deviation) and were 338 (66.9%) BRCA+ or BRCA+FDR and 167 SFH (33.1%); 222 (44.0%) with previous personal history of breast and/or ovarian cancer. Breast cancer was found in 51 women (49 screen-detected: 29 IDC, 6 IDC+DCIS, 2 ILC, 2 IDC+ILC, 2 ILC+DCIS, 1 medullary, 7 DCIS; 2 interval cancers: 1 IDC of 18 mm and 1 IDC+DCIS of 12 mm); 44/51 (86%) T1 stage. Excluding 5 women with previous axillary dissection and 1 woman with unknown nodal status, 27/38 (71.1%) invasive cancers had a negative nodal status. Incidence per year was 30/1057 (2.8%) for BRCA+ or BRCA+FDR, 21/525 (4.0%) for SFH, and 51/1582 (3.2%) overall. The rate of cancers detected only with MRI was 15/40 (37.5%) for screen-detected cancers studied with CBE and all the three imaging modalities, and 15/51 (29.4%) overall. Sensitivity was: CBE, 18.0%; mammography, 51.0%; US, 53.1%; and MRI, 91.1%; specificity 99.3%, 99.0%, 98.8%, and 96.7%; positive predictive value, 56.3%, 71.4%, 68.4%, and 55.4%; negative predictive value 96.2%, 97.7%, 97.7%, and 99.6%, respectively.

A multimodal annual surveillance enabled early detection of breast cancer in high-risk women with a low global rate of interval cancers (2/51=3.9%). About one third of cancers were diagnosed solely by MRI.

Annual MRI should be included in surveillance programs of women at genetic-familial high-risk for breast cancer.

Sardanelli, F, Podo, F, Santoro, F, Manoukian, S, Carbonaro, L, Del Maschio, A, Multicenter Comparative Multimodality Surveillance of Women at Genetic-familial High Risk for Breast Cancer.  Radiological Society of North America 2008 Scientific Assembly and Annual Meeting, February 18 - February 20, 2008 ,Chicago IL. http://archive.rsna.org/2008/6011605.html