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J-GLOBAL ID：202202272691476487   整理番号：22A0892318

上皮性卵巣癌リスク予測のための多遺伝子リスクモデリング【JST・京大機械翻訳】

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

著者 (120件)： Dareng Eileen O. (University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK) ,  Tyrer Jonathan P. (University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK) ,  Barnes Daniel R. (University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK) ,  Jones Michelle R. (Center for Bioinformatics and Functional Genomics, Cedars-Sinai Medical Center, Los Angeles, CA, USA) ,  Yang Xin (University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK) ,  Aben Katja K. H. (Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands) ,  Aben Katja K. H. (Netherlands Comprehensive Cancer Organisation, Utrecht, The Netherlands) ,  Adank Muriel A. (The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital, Family Cancer Clinic, Amsterdam, The Netherlands) ,  Agata Simona (Veneto Institute of Oncology IOV-IRCCS, Immunology and Molecular Oncology Unit, Padua, Italy) ,  Andrulis Irene L. (Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON, Canada) ,  Andrulis Irene L. (University of Toronto, Department of Molecular Genetics, Toronto, ON, Canada) ,  Anton-Culver Hoda (University of California Irvine, Department of Epidemiology, Genetic Epidemiology Research Institute, Irvine, CA, USA) ,  Antonenkova Natalia N. (N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus) ,  Aravantinos Gerasimos (‘Agii Anargiri’ Cancer Hospital, Athens, Greece) ,  Arun Banu K. (University of Texas MD Anderson Cancer Center, Department of Breast Medical Oncology, Houston, TX, USA) ,  Augustinsson Annelie (Lund University, Department of Cancer Epidemiology, Clinical Sciences, Lund, Sweden) ,  Balmana Judith (Vall d’Hebron Institute of Oncology, Hereditary cancer Genetics Group, Barcelona, Spain) ,  Balmana Judith (University Hospital of Vall d’Hebron, Department of Medical Oncology, Barcelona, Spain) ,  Bandera Elisa V. (Rutgers Cancer Institute of New Jersey, Cancer Prevention and Control Program, New Brunswick, NJ, USA) ,  Barkardottir Rosa B. (Landspitali University Hospital, Department of Pathology, Reykjavik, Iceland) ,  Barkardottir Rosa B. (University of Iceland, BMC (Biomedical Centre), Faculty of Medicine, Reykjavik, Iceland) ,  Barrowdale Daniel (University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK) ,  Beckmann Matthias W. (University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, Erlangen, Germany) ,  Beeghly-Fadiel Alicia (Vanderbilt University School of Medicine, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Nashville, TN, USA) ,  Benitez Javier (Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain) ,  Benitez Javier (Spanish National Cancer Research Centre (CNIO), Human Cancer Genetics Programme, Madrid, Spain) ,  Bermisheva Marina (Ufa Federal Research Centre of the Russian Academy of Sciences, Institute of Biochemistry and Genetics, Ufa, Russia) ,  Bernardini Marcus Q. (Princess Margaret Hospital, Division of Gynecologic Oncology, University Health Network, Toronto, ON, Canada) ,  Bjorge Line (Haukeland University Hospital, Department of Obstetrics and Gynecology, Bergen, Norway) ,  Bjorge Line (University of Bergen, Centre for Cancer Biomarkers CCBIO, Department of Clinical Science, Bergen, Norway) ,  Black Amanda (National Cancer Institute, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA) ,  Bogdanova Natalia V. (N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus) ,  Bogdanova Natalia V. (Hannover Medical School, Department of Radiation Oncology, Hannover, Germany) ,  Bogdanova Natalia V. (Hannover Medical School, Gynaecology Research Unit, Hannover, Germany) ,  Bonanni Bernardo (IEO, European Institute of Oncology IRCCS, Division of Cancer Prevention and Genetics, Milan, Italy) ,  Borg Ake (Lund University and Skane University Hospital, Department of Oncology, Lund, Sweden) ,  Brenton James D. (Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK) ,  Budzilowska Agnieszka (Maria Sklodowska-Curie National Research Institute of Oncology, Department of Pathology and Laboratory Diagnostics, Warsaw, Poland) ,  Butzow Ralf (University of Helsinki, Department of Pathology, Helsinki University Hospital, Helsinki, Finland) ,  Buys Saundra S. (Huntsman Cancer Institute, Department of Medicine, Salt Lake City, UT, USA) ,  Cai Hui (Vanderbilt University School of Medicine, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Nashville, TN, USA) ,  Caligo Maria A. (University Hospital, SOD Genetica Molecolare, Pisa, Italy) ,  Campbell Ian (Peter MacCallum Cancer Center, Melbourne, VIC, Australia) ,  Campbell Ian (The University of Melbourne, Sir Peter MacCallum Department of Oncology, Melbourne, VIC, Australia) ,  Cannioto Rikki (Roswell Park Cancer Institute, Cancer Pathology & Prevention, Division of Cancer Prevention and Population Sciences, Buffalo, NY, USA) ,  Cassingham Hayley (Division of Human Genetics, The Ohio State University, Department of Internal Medicine, Columbus, OH, USA) ,  Chang-Claude Jenny (German Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg, Germany) ,  Chang-Claude Jenny (University Medical Center Hamburg-Eppendorf, Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), Hamburg, Germany) ,  Chanock Stephen J. (National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA) ,  Chen Kexin (Tianjin Medical University Cancer Institute and Hospital, Department of Epidemiology, Tianjin, China) ,  Chiew Yoke-Eng (The University of Sydney, Centre for Cancer Research, The Westmead Institute for Medical Research, Sydney, NSW, Australia) ,  Chiew Yoke-Eng (Westmead Hospital, Department of Gynaecological Oncology, Sydney, NSW, Australia) ,  Chung Wendy K. (Columbia University, Departments of Pediatrics and Medicine, New York, NY, USA) ,  Claes Kathleen B. M. (Ghent University, Centre for Medical Genetics, Gent, Belgium) ,  Colonna Sarah (Huntsman Cancer Institute, Department of Medicine, Salt Lake City, UT, USA) ,  GEMO Study Collaborators ,  GC-HBOC Study Collaborators ,  EMBRACE Collaborators ,  Cook Linda S. (University of New Mexico, University of New Mexico Health Sciences Center, Albuquerque, NM, USA) ,  Cook Linda S. (Alberta Health Services, Department of Cancer Epidemiology and Prevention Research, Calgary, AB, Canada) ,  Couch Fergus J. (Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN, USA) ,  Daly Mary B. (Fox Chase Cancer Center, Department of Clinical Genetics, Philadelphia, PA, USA) ,  Dao Fanny (Memorial Sloan Kettering Cancer Center, Gynecology Service, Department of Surgery, New York, NY, USA) ,  Davies Eleanor (Cambridge, Cambridge, UK) ,  de la Hoya Miguel (CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigacion Sanitaria del Hospital Clinico San Carlos), Molecular Oncology Laboratory, Madrid, Spain) ,  de Putter Robin (Ghent University, Centre for Medical Genetics, Gent, Belgium) ,  Dennis Joe (University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK) ,  DePersia Allison (NorthShore University Health System, Center for Medical Genetics, Evanston, IL, USA) ,  DePersia Allison (The University of Chicago Pritzker School of Medicine, Chicago, IL, USA) ,  Devilee Peter (Leiden University Medical Center, Department of Pathology, Leiden, The Netherlands) ,  Devilee Peter (Leiden University Medical Center, Department of Human Genetics, Leiden, The Netherlands) ,  Diez Orland ,  Diez Orland ,  Ding Yuan Chun ,  Doherty Jennifer A. ,  Domchek Susan M. ,  Dork Thilo (Hannover Medical School, Gynaecology Research Unit, Hannover, Germany) ,  du Bois Andreas ,  du Bois Andreas ,  Duerst Matthias ,  Eccles Diana M. ,  Eliassen Heather A. ,  Eliassen Heather A. ,  Engel Christoph ,  Engel Christoph ,  Evans Gareth D. ,  Evans Gareth D. ,  Fasching Peter A. (University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, Erlangen, Germany) ,  Fasching Peter A. ,  Flanagan James M. ,  Fortner Renee T. (German Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg, Germany) ,  Machackova Eva ,  Friedman Eitan ,  Friedman Eitan ,  Ganz Patricia A. ,  Garber Judy ,  Gensini Francesca ,  Giles Graham G. ,  Giles Graham G. ,  Giles Graham G. ,  Glendon Gord (Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON, Canada) ,  Godwin Andrew K. ,  Goodman Marc T. ,  Greene Mark H. ,  Gronwald Jacek ,  OPAL Study Group ,  AOCS Group ,  Hahnen Eric ,  Hahnen Eric ,  Haiman Christopher A. ,  Hakansson Niclas ,  Hamann Ute ,  Hansen Thomas V. O. ,  Harris Holly R. ,  Harris Holly R. ,  Hartman Mikael ,  Hartman Mikael ,  Heitz Florian ,  Heitz Florian ,  Heitz Florian
資料名： European Journal of Human Genetics  (European Journal of Human Genetics)
巻： 30  号： 3  ページ： 349-362  発行年： 2022年 
JST資料番号： W4344A  ISSN： 1018-4813  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： ドイツ (DEU)  言語： 英語 (EN)

抄録/ポイント： 上皮卵巣癌(EOC)に対する多遺伝子リスクスコア(PRS)は,リスク層化を改善する可能性がある。モデルにおける単一ヌクレオチド多型(SNP)効果の共同推定は,PRS構築の標準アプローチに対する予測性能を改善できる。ここでは,個々のレベル遺伝子型データおよび連続収縮を伴うBayesフレームワーク,”要約統計のための選択および収縮”(S4),上皮非粘液性卵巣癌リスク予測に対する要約レベルデータに対する計算的に効率的,ペナルティ化,ロジスティック回帰モデル(ラッソ,弾性ネット,段階的)を実施した。Ovaria Cancer Association Consortium(OCAC)に参加した23,564名の非粘液EOC症例と40,138名の対照からなるデータセットのモデルを開発し,異なる不安の3つの個体群における最良のモデルを検証した:198,101名のヨーロッパの女性からの前向きデータ;東アジアの7,669人の女性;アフリカの1,072人の女性,および18,915のBRCA1および12,337のBRCA2病原性変異キャリアのヨーロッパの祖先。外部検証データにおいて,OCACモデル開発データから導かれた非ムチンEOCリスクに対する最も強い関連を持つモデルは,ヨーロッパの女性において,単位標準偏差当たり1.38(95%CI:1.28~1.48,AUC:0.588)のオッズ比(OR)を有するS4モデル(27,240SNPs)であった。東アジアの女性における1.14(95%CI:1.08~1.19,AUC:0.538);アフリカの女性における1.38(95%CI:1.21~1.58,AUC:0.593);BRCA1病原性変異キャリアにおける1.36(95%CI:1.29~1.43,AUC:0.592)のハザード比およびBRCA2病原性変異体キャリアにおける1.49(95%CI:1.35-1.64,AUC:0.624)。卵巣癌に対するリスク予測モデルにおけるS4 PRSの取り込みは,卵巣癌予防プログラムにおいて臨床的有用性を有する可能性がある。Copyright The Author(s) 2021 Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 標準偏差 ,  *リスク ,  弾性 ,  *遺伝子 ,  遺伝子型 ,  *上皮 ,  ムチン ,  病原性 ,  モデル ,  粘液 ,  個体群 ,  ペナルティ ,  *卵巣腫瘍 ,  一塩基多型
準シソーラス用語： ロジスティック回帰モデル , 【Automatic Indexing@JST】

分類 (1件)： 女性生殖器と胎児の腫よう  (GS04000K)

タイトルに関連する用語 (5件)： 上皮性卵巣癌 ,  リスク予測 ,  遺伝子 ,  リスク ,  モデリング