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論文
- タイトル
- タイトル（英）
- Present status of germline findings in precision medicine for Japanese cancer patients: issues in the current system.
- 参照URL
- https://researchmap.jp/yhoriuchi/published_papers/36771544
- 著者
- 著者（英）
- Satomi Higashigawa,Hiroyuki Matsubayashi,Yoshimi Kiyozumi,Nobuhiro Kado,Seiichiro Nishimura,Takuma Oishi,Takashi Sugino,Kunihiro Fushiki,Hiromichi Shirasu,Hirofumi Yasui,Nobuaki Mamesaya,Naomi Fukuzaki,Kana Kunitomo,Yasue Horiuchi,Hirotsugu Kenmotsu,Masakuni Serizawa
- 担当区分
- 概要
- 概要（英）
- OBJECTIVE: Since 2019, precision cancer medicine has been covered by national insurance in Japan; however, to date, germline findings have not been fully reported. The aim of this study was to evaluate the current status and raise a problem of germline finding analysis and disclosure in Japanese precision cancer medicine. METHODS: Germline findings of 52 genes were examined in 296 cases with advanced cancer by a case series study. RESULTS: Six (2.0%) cases were examined by the Oncoguide™ NCC Oncopanel with germline testing, but no germline findings were reported. The remaining 290 (98.0%) cases were analyzed by FoundationOne® CDx (tumor-only testing), which recognized 404 pathogenic variants; those of BRCA1/2 were recognized in 16 (5.5%) tumors. Our institutional algorithm suggested 39 candidate germline findings in 34 cases, while the public algorithm listed at least 91 candidate germline findings. Four germline findings had been previously identified (BRCA1: 3 and ATM: 1). Nine of 30 cases with candidate germline findings excluding these known germline findings refused or deferred germline testing. Only 4 of 16 cases that received counseling underwent germline testing, and those 4 revealed 3 germline findings (BRCA2, CDK4 and RAD51C); in total, 8 (2.7%) germline findings were revealed. Reasons for refusing genetic counseling and/or germline testing included extra hospital visits, added expense for germline testing due to limited national insurance coverage, poor patient physical condition and no known family members associated with the possible germline finding. CONCLUSIONS: In current Japanese precision cancer medicine, only a small fraction of the patients undergoes germline testing and demonstrated germline finding. The current results suggested a need for earlier indications for precision cancer medicine, broader insurance coverage and more efficient germline finding prediction algorithms, to increase the number of germline testings and to improve the following managements.
- 出版者・発行元
- 出版者・発行元（英）
- 誌名
- 誌名（英）
- Japanese journal of clinical oncology
- 巻
- 号
- 開始ページ
- 終了ページ
- 出版年月
- 2022年4月12日
- 査読の有無
- 招待の有無
- 掲載種別
- 研究論文（学術雑誌）
- ISSN
- DOI URL
- https://doi.org/10.1093/jjco/hyac046
- 共同研究・競争的資金等の研究課題
研究者
堀内 泰江
(ホリウチ ヤスエ)