Breast cancer detection and tumor characteristics in BRCA1 and BRCA2 mutation carriers

Purpose To describe imaging findings, detection rates, and tumor characteristics of breast cancers in a large series of patients with BRCA1 and BRCA2 mutations to potentially streamline screening strategies. Methods An IRB-approved, HIPAA-compliant retrospective analysis of 496 BRCA mutation carriers diagnosed with breast carcinoma from 1999 to 2013 was performed. Institutional database and electronic medical records were reviewed for mammography and MRI imaging. Patient and tumor characteristics including age at diagnosis, tumor histology, grade, receptor, and nodal status were recorded. Results Tumors in BRCA1 mutation carriers were associated exhibited significantly higher nuclear and histological grade compared to BRCA2 ( p