Breast cancer screening utilizing magnetic resonance imaging (MRI) in carriers of BRCA mutations

Category: Early Clinical Trials

Authors: M. E. Robson, E. Morris, N. Kauff, L. Scheuer, P. I. Borgen, C. Hudis, L. Norton, K. Offit; Memorial Sloan-Kettering Cancer Center, New York, NY

Abstract:
Purpose: Women with germline BRCA mutations are at risk for interval breast cancer developing between mammographic screening examinations. A number of studies have evaluated breast Magnetic Resonance Imaging (MRI) to increase the sensitivity of screening in high risk women. The present study describes the outcomes of breast MRI screening specifically in women with documented BRCA mutations.

Patients and Methods : A total of 53 women with documented deleterious germline BRCA mutations underwent 115 breast MRI examinations (90 screening, 25 interval follow-up) between 30 July 1998 and 15 November 2002. Medical records and radiology reports were reviewed to determine clinical outcomes.

Results: The 53 subjects of this study underwent 90 screening examinations and 25 recommended interval follow-up studies. Two women (3.8%) were diagnosed with ductal carcinoma-in-situ (1 mammographically occult) after an abnormal MRI. Further studies, biopsy, or short interval follow-up were recommended after 43 of 115 studies (37.4%), and 35 of 90 (39.9%) screening studies. Tissue sampling was performed in 12 cases, 2 of which yielded malignancy (positive predictive value 16.7%). Sensitivity and specificity were 100% and 81%, respectively, in women undergoing screening examinations.

Conclusions: Breast MRI screening in women with BRCA mutations appears to be sensitive, and may detect mammographically occult disease. However, specificity in the clinical setting is suboptimal, resulting in a significant number of false positive results. Further investigations are required to improve specificity and to investigate the psychological and economic impact of this screening modality in mutation carriers.