Objective: 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.
Materials and methods: 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.
Results: Fifty-two breast cancers were diagnosed and 98% were detectable in at least one modality. MRI detected more cancers (P < 0.001). No lesion had benign morphology on BI-RADS. BRCA-1 had triple-negative and high-grade tumors in the posterior part and in the upper-outer quadrant (P ≤ 0.01); positive-family-history patients had intermediate-grade neoplasms (P < 0.01) in the middle part (P = 0.04) and in the upper-outer quadrants (P = 0.05). There was moderate inter-rater agreement for the assigned BI-RADS assessment for MG (k = 0.554) and MRI (k = 0.512) and substantial inter-rater agreement for US (k = 0.741).
Conclusions: Imaging phenotypes of familial breast cancers with BI-RADS are malignant in all imaging modalities. Risk status seems to influence cancer location.
Keywords: BRCA1 Protein; BRCA2 Protein; Breast Neoplasms; Magnetic resonance imaging; Mammography.
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