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J-GLOBAL ID：202202218493424823   整理番号：22A0834506

遺伝性TP53変異体と前立腺癌リスク【JST・京大機械翻訳】

Inherited TP53 Variants and Risk of Prostate Cancer

著者 (58件)： Maxwell Kara N. (Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ,  Maxwell Kara N. (Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ,  Maxwell Kara N. (Corporal Michael J. Crescenz Veterans Affairs Medical Center, Philadelphia PA, 19104) ,  Cheng Heather H. (Division of Oncology, Department of Medicine, University of Washington, Seattle, WA, USA) ,  Cheng Heather H. (Fred Hutchinson Cancer Research Center, Seattle, WA, USA) ,  Powers Jacquelyn (Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ,  Gulati Roman (Fred Hutchinson Cancer Research Center, Seattle, WA, USA) ,  Ledet Elisa M. (Tulane Cancer Center, Tulane Medical School, New Orleans, LA, USA) ,  Morrison Casey (Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ,  Le Anh (Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ,  Hausler Ryan (Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ,  Hausler Ryan (George E. Wahlen Department of Veterans Affairs Medical Center, Salt Lake City, UT 84148) ,  Stopfer Jill (Division of Population Sciences, Dana-Farber Cancer Institute, Boston, MA, USA) ,  Hyman Sophie (Division of Population Sciences, Dana-Farber Cancer Institute, Boston, MA, USA) ,  Kohlmann Wendy (Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA) ,  Naumer Anne (Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA) ,  Vagher Jennie (Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA) ,  Greenberg Samantha E. (Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA) ,  Naylor Lorraine (Seattle Cancer Care Alliance, Seattle, WA, USA) ,  Laurino Mercy (Seattle Cancer Care Alliance, Seattle, WA, USA) ,  Konnick Eric Q. (Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA) ,  Shirts Brian H. (Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA) ,  Shirts Brian H. (Brotman Baty Institute for Precision Medicine, Seattle, WA, USA) ,  AlDubayan Saud H. (Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA) ,  AlDubayan Saud H. (Cancer Program, The Broad Institute of MIT and Harvard, Cambridge, MA, USA) ,  Van Allen Eliezer M. (Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA) ,  Van Allen Eliezer M. (Cancer Program, The Broad Institute of MIT and Harvard, Cambridge, MA, USA) ,  Nguyen Bastien (Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA) ,  Vijai Joseph (Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA) ,  Abida Wassim (Division of Solid Tumor Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA) ,  Carlo Maria I. (Division of Solid Tumor Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA) ,  Dubard-Gault Marianne (Seattle Cancer Care Alliance, Seattle, WA, USA) ,  Dubard-Gault Marianne (Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA) ,  Lee Daniel J. (Department of Surgery, Division of Urology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ,  Lee Daniel J. (Corporal Michael J. Crescenz Veterans Affairs Medical Center, Philadelphia PA, 19104) ,  Maese Luke D. (Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA) ,  Maese Luke D. (Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA) ,  Mandelker Diana (Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center, New York, NY, USA) ,  Montgomery Bruce (Division of Oncology, Department of Medicine, University of Washington, Seattle, WA, USA) ,  Montgomery Bruce (Fred Hutchinson Cancer Research Center, Seattle, WA, USA) ,  Montgomery Bruce (VA Puget Sound Health Care System, Seattle, WA 98108) ,  Morris Michael J. (Division of Solid Tumor Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA) ,  Nicolosi Piper (Invitae Corporation, San Francisco, CA, USA) ,  Nussbaum Robert L. (Invitae Corporation, San Francisco, CA, USA) ,  Schwartz Lauren E. (Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA) ,  Stadler Zsofia (Division of Solid Tumor Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA) ,  Garber Judy E. (Division of Population Sciences, Dana-Farber Cancer Institute, Boston, MA, USA) ,  Offit Kenneth (Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA) ,  Schiffman Joshua D. (Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA) ,  Schiffman Joshua D. (Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA) ,  Schiffman Joshua D. (PEEL Therapeutics, Inc., Salt Lake City, UT, USA) ,  Nelson Peter S. (Fred Hutchinson Cancer Research Center, Seattle, WA, USA) ,  Nelson Peter S. (Seattle Cancer Care Alliance, Seattle, WA, USA) ,  Sartor Oliver (Tulane Cancer Center, Tulane Medical School, New Orleans, LA, USA) ,  Walsh Michael F. (Division of Solid Tumor Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA) ,  Walsh Michael F. (Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA) ,  Pritchard Colin C. (Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA) ,  Pritchard Colin C. (Brotman Baty Institute for Precision Medicine, Seattle, WA, USA)
資料名： European Urology  (European Urology)
巻： 81  号： 3  ページ： 243-250  発行年： 2022年 
JST資料番号： A0910B  ISSN： 0302-2838  CODEN： EUURAV  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 遺伝性生殖系列TP53病原性および病原性変異体(gTP53)は,Li-Fraumen症候群(LFS)を含む常染色体優性多発癌素因を引き起こす。しかし,前立腺癌とgTP53との既知の関連はない。gTP53が前立腺癌に素因するかどうかを決定する。この多施設後向き研究は,前立腺癌コホートにおけるLFS男性とgTP53罹患率のコホートにおける前立腺癌発生率を特徴付ける。gTP53変異体のスペクトルと前立腺癌に関連する臨床的特徴を評価した。163人の成人LFS男性の間で31の前立腺癌症例を同定し,54人の年齢≧50歳の26人を含んだ。遺伝子検査の時点で前立腺癌のない117のLFS男性の間で,6つは,3.0(1.3-7.2)年の追跡調査の中央値(四分位範囲[IQR])で前立腺癌と診断され,25倍のリスク増加(95%信頼区間[CI]9.2-55;p<0.0001)であった。前立腺癌コホートで6850人の男性中38人(0.6%)でgTP53を同定し,相対リスクは集団対照より9.1倍高かった(95%CI6.2~14;p<0.0001;gnomAD)。古典的LFSとは関連しない減衰変異体の部位でホットスポットを観察した。利用可能なgTP53前立腺腫瘍の2/3は,第2のTP53対立遺伝子の体細胞不活性化があった。本研究におけるgTP53前立腺癌症例のうち,診断時の年齢中央値は56(IQR:51~62歳),44%は≧8腫瘍,29%は診断時に進行した疾患を有していた。前立腺癌コホートにおけるLFS男性およびgTP53罹患率における前立腺癌発生率の相補的分析は,gTP53が悪性前立腺癌に素因することを示唆する。前立腺癌は,生殖系列前立腺癌感受性試験において考慮されたLFSスクリーニングプロトコルおよびTP53の一部として考慮されるべきである。TP53遺伝子における遺伝性病原性変異体は,男性が悪性前立腺癌に罹患する可能性が高い。Copyright 2022 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： *遺伝 ,  *前立腺 ,  体細胞 ,  病原性 ,  対立遺伝子 ,  遺伝学実験技術 ,  母集団 ,  スクリーニング ,  常染色体 ,  重複癌 ,  *前立腺腫瘍 ,  感受性試験 ,  癌抑制遺伝子
準シソーラス用語： 遺伝子検査 ,  *TP53 ,  TP53遺伝子 ,  臨床的特徴 , 【Automatic Indexing@JST】

著者キーワード (10件)： 減衰全反射 ,  遺伝子検査 ,  生殖系列 ,  低形態変異 ,  遺伝性癌症候群 ,  Li-Fraumeni症候群 ,  病原性変異体 ,  前立腺癌 ,  スクリーニング ,  TP53

分類 (2件)： 遺伝的変異  (EC01030Y) ,  分子遺伝学一般  (EC02010J)

タイトルに関連する用語 (5件)： 遺伝 ,  TP53 ,  変異体 ,  前立腺癌 ,  リスク