The Value of Breast Ultrasound inBRCA1 andBRCA2 Mutation Carriers.

OBJECTIVE: BRCA1/2 mutations carriers face a lifetime risk for breast cancer of 60 to 80%. Typically, tumor incidence is high at young age and tumor growth rates are significantly elevated. On ultrasound investigation the malignancies often mimic fibroadenomas with round shape, circumscribed margins and a homogeneous internal structure leading to a BIRADS 3 classification. On this background we evaluated the efficacy of ultrasound for the early detection of breast cancer in this high risk group.METHODS: Between 01/1997-07/2008 223 BRCA1/2 mutation carriers participated in a breast cancer screening program which included semi-annual ultrasound (US) and annual mammography (MG) and MR imaging (MRI).Screening procedures started from age 25, MG at age 30. As patients consecutively joint the study women underwent 5 (median) screening rounds with a range of 1 to 22 appointments, totaling 1855 rounds of screening. All three imaging modalities were coded according to the American College of Radiology (BI-RADS classification).RESULTS: We detected 15 primary and 14 secondary contralateral BRCA-associated tumors in 27 patients. Age at diagnosis ranged from 29 to 66 years (median 41 years). BI-RADS classification IV and V enabled the detection of 9 (32%) cancers by mammography, 21 (87,5%) by US and 27 (96%) by MRI scan. Specificity added up to 100%. Three (11%) tumors were detected by the semi-annual ultrasound screen and two patients presented with interval carcinomas (16 and 8 mm in diameter) between two screening appointments. Thus, the proportion of interval cancers was 7%.CONCLUSION: Semi-annual sonography as a supplementary examination enabled us to reveal 3 additional invasive cancers (two stage pT1b, one stage pT1c). Due to the specific tumor morphology and the considerably elevated tumor doubling time mutation carriers may benefit from the addition of semi-annual ultrasound as a highly sensitive and cost-effective method. Citation Information: Cancer Res 2009;69(24 Suppl):Abstract nr 4004.