Journal of Hereditary Tumors
Online ISSN : 2435-6808
Case reports
Balancing treatment and reproductive rights in primary and recurrent phases of breast cancer diagnosed as hereditary breast and ovarian cancer syndrome: a case report
Kaori AkazawaTomohiro MiyakeTatsuya MiyakeTsuyoshi TakiuchiMichie ShiragaYuki SatoKae HashimotoNanae MasunagaKaori AbeMasami TsukabeTetsuhiro YoshinamiYoshiaki SotaTomonori TaneiMasafumi ShimodaKenzo Shimazu
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JOURNAL OPEN ACCESS

2025 Volume 24 Issue 3 Pages 179-184

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Abstract

 We herein report a case of hereditary breast and ovarian cancer syndrome (HBOC) wherein treatment during the perioperative and recurrent phases of breast cancer was conducted with respect for the patient’s reproductive rights. A 35-year-old woman with a desire for childbearing underwent embryo cryopreservation followed by breast-conserving surgery and sentinel lymph node biopsy for treatment of right primary breast cancer. Postoperatively, she was diagnosed with HBOC (BRCA1 pathogenic variant-positive). Her breast cancer, categorized as estrogen receptor (ER)-weakly positive and human epidermal growth factor receptor 2 (HER2)-negative (pT2N0M0/stage IIA), was treated with chemotherapy and radiation therapy, aiming for pregnancy and childbirth. After delivery, she planned to undergo risk-reducing salpingo-oophorectomy and endocrine therapy. However, at 18 months postoperatively (15 weeks of pregnancy), the patient developed recurrences in the chest wall, liver, and bones (ER-negative, HER2-negative). Respecting the patient’s wish to continue the pregnancy, treatment for breast cancer was commenced and she successfully delivered a child at 33 weeks of pregnancy. Treatment continued after childbirth, but the patient died 12 months following the recurrence. The presence of the child provided emotional support for the patient and her family during treatment. This case report with literature review discusses perioperative and recurrent breast cancer management in reproductive-aged patients with HBOC.

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© 2025 The Japanese Society for Hereditary Tumors
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