In the United States, annual breast cancer surveillance using contrast-enhanced breast magnetic resonance imaging (MRI) is recommended for carriers of
BRCA1/2 pathogenic variants. If lesions are detected, MRI-guided biopsies are recommended to confirm the pathological diagnoses. However, the utility of MRI surveillance for carriers of
BRCA1/2 pathogenic variants in Japan remains unclear. Thus, the clinical utility of breast MRI in
BRCA1/2 pathogenic variant carriers was examined in Japanese patients who developed secondary breast cancer during postoperative surveillance after their initial breast cancer diagnosis. This retrospective study included carriers of pathogenic
BRCA1 or
BRCA2 variants with breast cancer who were treated at Showa University Hospital between January 2010 and December 2020. Among the 81 patients with pathogenic
BRCA mutations (48
BRCA1 and 33
BRCA2) who underwent breast cancer surgery, 8 (9.9%) patients developed secondary breast cancer (5
BRCA1, 6.2% and 3
BRCA2, 3.7%). The median follow-up period after the initial breast cancer surgery was 104.5 months (range: 46-112 months). Four lesions were identified by MRI, three lesions were identified by breast ultrasonography, and one lesion was detected by the patient. Three of the four lesions detected by MRI could not be detected by mammography or breast ultrasonography but were confirmed by MRI-guided biopsies. One lesion was not detected by MRI due to bilateral background parenchymal enhancement but was identified by ultrasonography. The combined use of MRI and breast ultrasonography may enhance early cancer detection in
BRCA1/2 pathogenic variant carriers. Larger-scale studies are needed to evaluate the role of MRI-guided biopsies and refine surveillance strategies for
BRCA1/2 pathogenic variant carriers.
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