Clinicopathological Characteristics of Lesions Diagnosed by MRI-Guided Biopsy in BRCA1/2 Mutation Carriers.

BRCA1/2 pathogenic variant carriers face a high risk of breast cancer, making early detection vital for minimizing systemic treatments. Contrast-enhanced magnetic resonance imaging (MRI) outperforms mammography and ultrasound in detecting lesions that are often missed, particularly in individuals with BRCA1 or BRCA2 variants. However, the effectiveness of MRI-guided biopsy remains unclear. Thus, the aim was to evaluate the effectiveness of MRI-guided biopsy in detecting malignancy among BRCA1/2 pathogenic variant carriers with MRI-only-detected breast lesions and compare these findings with those in non-carriers and assess lesion characteristics and diagnostic yield. We retrospectively analyzed. We compared the effectiveness of MRI-guided biopsy for BRCA1/2 pathogenic variant carriers with MRI-only-detected lesions with that of non-carriers between April 2018 and December 2022. We examined the clinicopathological characteristics and MRI findings of the BRCA1/2 carriers. A total of 130 lesions from 126 patients were reviewed. The BRCA1/2 mutation group had a significantly higher incidence of category 3 lesions on MRI. Invasive carcinoma was more prevalent among BRCA1/2 carriers, and non-carriers predominantly presented with ductal carcinoma in situ. MRI-guided biopsy identified malignant tumors in 30.1% of lesions. The positive predictive values were 42.9% for BRCA1/2 carriers and 28.6% for non-carriers. MRI-guided biopsy was effective in detecting early-stage invasive carcinoma in BRCA1/2 carriers, highlighting its role in tailored surveillance strategies. For new lesions categorized as breast imaging reporting and data system 3 on MRI, biopsy should be considered, particularly for BRCA1/2 carriers. Prospective studies are needed to validate these findings and assess long-term clinical outcomes to inform personalized management approaches for high-risk populations.