作者
Douglas A Levine, Cancer Genome Atlas Research Network Genome sequencing centres: Broad Institute Getz Gad 1 Gabriel Stacey B. 1 Cibulskis Kristian 1 Lander Eric 1 Sivachenko Andrey 1 Sougnez Carrie 1 Lawrence Mike 1, Washington University in St Louis Kandoth Cyriac 2 Dooling David 2 Fulton Robert 2 Fulton Lucinda 2 Kalicki-Veizer Joelle 2 McLellan Michael D. 2 O’Laughlin Michelle 2 Schmidt Heather 2 Wilson Richard K. 2 Ye Kai 2 Ding Li 2 Mardis Elaine R. 2, University of Southern California & Johns Hopkins Baylin Stephen B. 21 Bootwalla Moiz S. 22 Lai Phillip H. 22 Triche Jr Timothy J. 22 Van Den Berg David J. 22 Weisenberger Daniel J. 22 Laird Peter W. 22 Shen Hui 22, Institute for Systems Biology Reynolds Sheila M. 23 Shmulevich Ilya 23, University of California, Santa Cruz/Buck Institute Benz Stephen 28 Goldstein Ted 28 Haussler David 28 Ng Sam 28 Szeto Christopher 28 Stuart Joshua 28 Benz Christopher C. 29 Yau Christina 29, Tissue source sites: Asterand Barnabas Nandita 37 Berry-Green Charlenia 37 Blanc Victoria 37 Boice Lori 38 Button Michael 37 Farkas Adam 37 Green Alex 37 MacKenzie Jean 37 Nicholson Dana 37, British Columbia Cancer Agency Kalloger Steve E. 39 40 Blake Gilks C. 39 40, Cedars-Sinai Medical Center Karlan Beth Y. 41 Lester Jenny 41 Orsulic Sandra 41, Christiana Care Borowsky Mark 42 Cadungog Mark 42 Czerwinski Christine 42 Huelsenbeck-Dill Lori 42 Iacocca Mary 42 Petrelli Nicholas 42 Rabeno Brenda 42 Witkin Gary 42, Cureline Nemirovich-Danchenko Elena 43 Potapova Olga 43 Rotin Daniil 43, Duke University Berchuck Andrew 44, Gynecologic Oncology Group Birrer Michael 45 DiSaia Phillip 46 Monovich Laura 47, International Genomics Consortium Curley Erin 48 Gardner Johanna 48 Mallery David 48 Penny Robert 48, Mayo Clinic Dowdy Sean C. 49 Winterhoff Boris 49 Dao Linda 50 Gostout Bobbie 49 Meuter Alexandra 49 Teoman Attila 49, Memorial Sloan-Kettering Cancer Center Dao Fanny 51 Olvera Narciso 51 Bogomolniy Faina 51 Garg Karuna 52 Soslow Robert A. 52 Levine Douglas A. 51, NN Blokhin Russian Cancer Research Center Abramov Mikhail 53, Ontario Tumour Bank Bartlett John MS 54 Kodeeswaran Sugy 54 Parfitt Jeremy 55, St Petersburg Academic University Moiseenko Fedor 56, University Health Network Clarke Blaise A. 57, University of Hawaii Goodman Marc T. 58 59 Carney Michael E. 58 Matsuno Rayna K. 58, University of North Carolina Fisher Jennifer 38 Huang Mei 38 Kimryn Rathmell W. 15 Thorne Leigh 38 Van Le Linda 38, University of Pittsburgh Dhir Rajiv 60 Edwards Robert 60 Elishaev Esther 60 Zorn Kristin 60, University of Texas MD Anderson Cancer Center Broaddus Russell 31, Washington University School of Medicine Goodfellow Paul J. 36 61 Mutch David 61, Data coordination centre Ayala Brenda 62 Chu Anna L. 62 Jensen Mark A. 62 Kothiyal Prachi 62 Pihl Todd D. 62 Pontius Joan 62 Pot David A. 62 Snyder Eric E. 62 Srinivasan Deepak 62 Kahn Ari B. 62, Project team: National Cancer Institute Mills Shaw Kenna R. 67 Sheth Margi 67 Davidsen Tanja 67 Eley Martin L. Ferguson Greg 68 69 Demchok John A. 67 Yang Liming 67, National Human Genome Research Institute Guyer Mark S. 70 Ozenberger Bradley A. 70 Sofia Heidi J. 70
发表日期
2013/5/2
期刊
Nature
卷号
497
期号
7447
页码范围
67-73
出版商
Nature Publishing Group UK
简介
We performed an integrated genomic, transcriptomic and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumours and ∼25% of high-grade endometrioid tumours had extensive copy number alterations, few DNA methylation changes, low oestrogen receptor/progesterone receptor levels, and frequent TP53 mutations. Most endometrioid tumours had few copy number alterations or TP53 mutations, but frequent mutations in PTEN, CTNNB1, PIK3CA, ARID1A and KRAS and novel mutations in the SWI/SNF chromatin remodelling complex gene ARID5B. A subset of endometrioid tumours that we identified had a markedly increased transversion mutation frequency and newly identified hotspot mutations in POLE. Our results classified endometrial cancers into four categories: POLE ultramutated, microsatellite instability hypermutated, copy …
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DA Levine… - Nature, 2013