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J-GLOBAL ID：201802291823284537   整理番号：18A0814209

10,389成人癌における病原性生殖系列変異体【JST・京大機械翻訳】

Pathogenic Germline Variants in 10,389 Adult Cancers

著者 (68件)： Huang Kuan-lin (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Huang Kuan-lin (McDonnell Genome Institute, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Mashl R. Jay (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Mashl R. Jay (McDonnell Genome Institute, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Wu Yige (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Wu Yige (McDonnell Genome Institute, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Ritter Deborah I. (Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, USA) ,  Wang Jiayin (School of Management, Xi’an Jiaotong University, Xi’an, Shanxi, China) ,  Oh Clara (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Paczkowska Marta (Computational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada) ,  Reynolds Sheila (Institute for Systems Biology, Seattle, WA 98109, USA) ,  Wyczalkowski Matthew A. (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Wyczalkowski Matthew A. (McDonnell Genome Institute, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Oak Ninad (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Scott Adam D. (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Scott Adam D. (McDonnell Genome Institute, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Krassowski Michal (Computational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada) ,  Cherniack Andrew D. (The Broad Institute, Cambridge, MA 02142, USA) ,  Houlahan Kathleen E. (Computational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada) ,  Houlahan Kathleen E. (Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada) ,  Jayasinghe Reyka (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Jayasinghe Reyka (McDonnell Genome Institute, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Wang Liang-Bo (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Wang Liang-Bo (McDonnell Genome Institute, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Zhou Daniel Cui (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Zhou Daniel Cui (McDonnell Genome Institute, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Liu Di (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Cao Song (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Cao Song (McDonnell Genome Institute, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Kim Young Won (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Koire Amanda (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  McMichael Joshua F. (McDonnell Genome Institute, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Hucthagowder Vishwanathan (Clinical Cytogenetics at Molecular Pathology Laboratory Network, Inc., Maryville, TN 37804, USA) ,  Kim Tae-Beom (Departments of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA) ,  Hahn Abigail (Institute for Systems Biology, Seattle, WA 98109, USA) ,  Wang Chen (Department of Health Sciences Research and Department of Obstetrics and Gynecology, Mayo Clinic College of Medicine, Rochester, MN 55905 USA) ,  McLellan Michael D. (McDonnell Genome Institute, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Al-Mulla Fahd (Dasman Diabetes Institute and Molecular Pathology Laboratory, Kuwait University, Kuwait) ,  Johnson Kimberly J. (Brown School Master of Public Health Program, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Lichtarge Olivier (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Boutros Paul C. (Computational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada) ,  Boutros Paul C. (Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada) ,  Raphael Benjamin (Lewis-Sigler Institute, Princeton University, Princeton, NJ 08544, USA) ,  Lazar Alexander J. (Departments of Pathology and Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA) ,  Zhang Wei (Department of Cancer Biology and Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston Salem, NC 27157 USA) ,  Wendl Michael C. (McDonnell Genome Institute, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Wendl Michael C. (Department of Genetics, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Wendl Michael C. (Department of Mathematics, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Govindan Ramaswamy (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Jain Sanjay (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Wheeler David (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Kulkarni Shashikant (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Kulkarni Shashikant (Baylor Genetics, Houston, TX 77021, USA) ,  Dipersio John F. (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Dipersio John F. (Siteman Cancer Center, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Reimand Jueri (Computational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada) ,  Reimand Jueri (Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada) ,  Meric-Bernstam Funda (Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA) ,  Chen Ken (Departments of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA) ,  Shmulevich Ilya (Institute for Systems Biology, Seattle, WA 98109, USA) ,  Plon Sharon E. (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Plon Sharon E. (Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA) ,  Chen Feng (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Chen Feng (Siteman Cancer Center, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Ding Li (Department of Medicine, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Ding Li (McDonnell Genome Institute, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Ding Li (Department of Genetics, Washington University in St. Louis, Saint Louis, MO 63108, USA) ,  Ding Li (Siteman Cancer Center, Washington University in St. Louis, Saint Louis, MO 63108, USA)
資料名： Cell (Cambridge, Mass.)  (Cell (Cambridge, Mass.))
巻： 173  号： 2  ページ： 355-370.e14  発行年： 2018年 
JST資料番号： A0707B  ISSN： 0092-8674  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： アメリカ合衆国 (USA)  言語： 英語 (EN)

抄録/ポイント： 癌における素因変異体の最大の調査を行い,33の癌型からの10389症例のうち8%において853の病原性または病原性変異体を発見した。21の遺伝子は,メラノーマにおけるSDHAと胃腺癌におけるPALB2の新しい関連を含む単一または交差癌関連を示した。ATM,BRCA1およびNF1を含む腫瘍抑制因子における659の素因変異体および18の付加的な大きな欠失は,低い遺伝子発現およびヘテロ接合性または双対立遺伝子2ヒットイベントの頻繁な(43%)消失を示した。また,高い遺伝子発現と関連したMET,RET,およびPTPN11におけるミスセンスを含む,癌遺伝子における33のそのような変異体を発見した。症例対照頻度,ヘテロ接合性の消失,発現効果および変異と修飾残基との共局在を含む複数の証拠により支持された優先化VUSsから47の付加的素因変異体を命名した。著者らの統合的アプローチは,稀な素因変異体を機能的結果に結びつけ,癌における変異体分類と生殖細胞遺伝学的試験の将来のガイドラインを形成する。Copyright 2018 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： 遺伝子発現 ,  *病原性 ,  *成人 ,  ゲノム ,  癌遺伝子 ,  黒色腫 ,  *生殖 ,  遺伝子 ,  対立遺伝子 ,  細胞遺伝学 ,  PTPN11遺伝子 ,  ヘテロ接合性 ,  BRCA1タンパク質 ,  *生殖系列 ,  *遺伝的変異 ,  分子遺伝現象
準シソーラス用語： *変異 , 【Automatic Indexing@JST】

著者キーワード (4件)： 癌の素因 ,  生殖系列と体細胞ゲノム ,  LOH ,  変異病原性

分類 (3件)： 発癌機序・因子  (GE02020C) ,  遺伝学研究法  (EC01020N) ,  遺伝的変異  (EC01030Y)

タイトルに関連する用語 (5件)： 成人 ,  癌 ,  病原性 ,  生殖系列 ,  変異体