A patient with HBOC syndrome who was referred to a university hospital using the JOHBOC cooperation system, was diagnosed with a pathogenic variant of BRCA1, and treated by RRSO: a case report

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  • Nakamura Takashi
    Department of Breast Surgery, Nabari City Hospital Breast Center, Nara Medical University Hospital Department of Surgery, Nara Medical University
  • Nishikubo Toshiya
    Department of Genetic Counseling, Nara Medical University Hospital
  • Ikeda Naoya
    Breast Center, Nara Medical University Hospital Department of Surgery, Nara Medical University
  • Hirao Tomoko
    Breast Center, Nara Medical University Hospital
  • Yokotani Tomoyo
    Breast Center, Nara Medical University Hospital Department of Surgery, Nara Medical University
  • Tanaka Yukimi
    Breast Center, Nara Medical University Hospital Department of Surgery, Nara Medical University
  • Niiro Emiko
    Department of Obstetrics and Gynecology, Nara Medical University Hospital
  • Masui Kaoru
    Department of Medical Technology, Nara Medical University Hospital
  • Miyagi Megumi
    Department of Nurse, Nara Medical University Hospital
  • Sho Masayuki
    Breast Center, Nara Medical University Hospital Department of Surgery, Nara Medical University

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  • 地域密着型病院でHBOCを疑った患者がJOHBOC連携システムを通じて基幹病院でのBRCA1の病的バリアントの診断を受け， リスク低減卵管卵巣摘出術を受けた1例

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<p>The hereditary breast and ovarian cancer syndrome （HBOC）, presenting an autosomal dominant inheritance pattern, is caused by germline pathogenic variant in the BRCA1/2 genes, which is associated with increased risk of cancer such as breast and ovarian cancer. We report a case of metachronous bilateral breast cancer strongly suspicious of HBOC from her family history. Through productive cooperation system of Japanese Organization of Hereditary Breast and Ovarian Cancer （JOHBOC）, she was diagnosed as HBOC（with a pathogenic variant of BRCA1） and treated by risk reducing salpingo-oophorectomy （RRSO）. Moreover, this cooperation system led to her sister’s genetic counseling with genetic tests and her decision of receiving RRSO after the diagnosis with a pathogenic variant of BRCA1.</p>

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