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INTRODUCTION: pathogenic variant. CASE PRESENTATION: pathogenic variant. The patient underwent a total right mastectomy and axillary lymph node dissection. Pathological diagnosis was primary SC of the breast, pT2N0M0, pStage IIA. His postoperative clinical course was good. Postoperatively, the patient received endocrine therapy and S-1 for 1 year and is currently receiving endocrine therapy alone. One year and 5 months have passed since the operation, with no recurrence or metastasis noted. CONCLUSIONS: pathogenic variant are exceedingly rare, it will be necessary to continue accumulating cases in the future to understand this disease further. This research is essential to elucidating SC.
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Kuribayashi et al. (2025) studied this question.
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