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  1. 20 医学系研究科・医学部
  2. 20A 学術誌論文
  3. 20A1 雑誌掲載論文

Post-mortem Plasma Cell-Free DNA Sequencing: Proof-of-Concept Study for the Liquid Autopsy

http://hdl.handle.net/10295/00006284
http://hdl.handle.net/10295/00006284
21633d0b-7dc8-4625-b021-3c4de6cc6cf0
名前 / ファイル ライセンス アクション
iA_2022_110.pdf iA_2022_110.pdf (3.9 MB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2023-02-25
タイトル
タイトル Post-mortem Plasma Cell-Free DNA Sequencing: Proof-of-Concept Study for the Liquid Autopsy
言語 en
言語
言語 eng
資源タイプ
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
資源タイプ journal article
アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
作成者 Takai, Erina

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Maeda, Daichi

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Li, Zhuo

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Kudo-Asabe, Yukitsugu

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Totoki, Yasushi

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Nakamura, Hiromi

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Nakamura, Akiko

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Nakamura, Rumi

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Kirikawa, Misato

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Ito, Yukinobu

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Yoshida, Makoto

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Inoue, Takamitsu

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Habuchi, Tomonori

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Ikoma, Shohei

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Katoh, Hiroto

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Kato, Mamoru

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Shibata, Tatsuhiro

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Ishikawa, Shumpei

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Yachida, Shinichi

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Goto, Akiteru

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内容記述
内容記述タイプ Abstract
内容記述 Recent genomic studies on cancer tissues obtained during rapid autopsy have provided insights into the clonal evolution and heterogeneity of cancer. However, post-mortem blood has not been subjected to genetic analyses in relation to cancer. We first confirmed that substantial quantities of cell-free DNA were present in the post-mortem plasma of 12 autopsy cases. Then, we focused on a pilot case of prostate cancer with multiple metastases for genetic analyses. Whole-exome sequencing of post-mortem plasma-derived cell-free DNA and eight frozen metastatic cancer tissues collected during rapid autopsy was performed, and compared their mutational statuses. The post-mortem plasma cell-free DNA was successfully sequenced and 344 mutations were identified. Of these, 160 were detected in at least one of the metastases. Further, 99% of the mutations shared by all metastases were present in the plasma. Sanger sequencing of 30 additional formalin-fixed metastases enabled us to map the clones harboring mutations initially detected only in the plasma. In conclusion, post-mortem blood, which is usually disposed of during conventional autopsies, can provide valuable data if sequenced in detail, especially regarding cancer heterogeneity. Furthermore, post-mortem plasma cell-free DNA sequencing (liquid autopsy) can be a novel platform for cancer research and a tool for genomic pathology.
言語 en
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
書誌情報 en : SCIENTIFIC REPORTS

巻 10, 発行日 2020
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 2045-2322
出版者
出版者 Nature Research
言語 en
関連情報
関連タイプ isIdenticalTo
識別子タイプ DOI
関連識別子 https://doi.org/10.1038/s41598-020-59193-y
権利情報
権利情報 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. © The Author(s) 2020
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