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To assess imaging phenotypes of familial breast cancer on mammography (MG), ultrasound (US), and magnetic resonance imaging (MRI) using the fifth edition of the BI-RADS; to investigate inter-observer agreement and to correlate imaging phenotypes with risk status, histopathology, and molecular subtypes derived by immunohistochemical surrogate.

Forty-nine women (BRCA-1/2 mutation carriers and women with >20% lifetime risk) were diagnosed with breast cancer within our high-risk screening program. BI-RADS MG, US, and MRI imaging descriptors were correlated with risk status, histopathology, and molecular subtypes derived by immunohistochemical surrogate. Inter-rater agreement for BI-RADS MG, US, and MRI categories was assessed.

Fifty-two breast cancers were diagnosed and 98% were detectable in at least one modality. MRI detected more cancers (P < …