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

This study aimed at evaluating the efficacy of ultrasound for the early detection of breast cancers in BRCA1/2 mutation carriers. 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). 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. 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.