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Title

Pan-cancer analysis of whole genomes

AuthorsThe ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium; Heredia-Genestar, José María; Marqués-Bonet, Tomàs CSIC ORCID ; Navarro, Arcadi CSIC ORCID
Issue Date5-Feb-2020
PublisherNature Publishing Group
CitationNature 578: 82-93 (2020)
AbstractCancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation; analyses timings and patterns of tumour evolution; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity; and evaluates a range of more-specialized features of cancer genomes.
DescriptionThe ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium: Peter J. Campbell1,2,745*, Gad Getz3,4,5,6,745*, Jan O. Korbel7,8,745*, Joshua M. Stuart9,745*, Jennifer L. Jennings10,11,745, Lincoln D. Stein12,13,745*, Marc D. Perry14,15, Hardeep K. NahalBose15, B. F. Francis Ouellette16,17, Constance H. Li12,18, Esther Rheinbay3,6,19, G. Petur Nielsen19, Dennis C. Sgroi19, Chin-Lee Wu19, William C. Faquin19, Vikram Deshpande19, Paul C. Boutros12,18,20,21, Alexander J. Lazar22, Katherine A. Hoadley23,24, David N. Louis19, L. Jonathan Dursi12,25, Christina K. Yung15, Matthew H. Bailey26,27, Gordon Saksena3, Keiran M. Raine1, Ivo Buchhalter28,29,30, Kortine Kleinheinz28,30, Matthias Schlesner28,31, Junjun Zhang15, Wenyi Wang32, David A. Wheeler33,34, Li Ding26,27,35, Jared T. Simpson12,36, Brian D. O’Connor15,37, Sergei Yakneen8, Kyle Ellrott38, Naoki Miyoshi39, Adam P. Butler1, Romina Royo40, Solomon I. Shorser12, Miguel Vazquez40,41, Tobias Rausch8, Grace Tiao3, Sebastian M. Waszak8, Bernardo Rodriguez-Martin42,43,44, Suyash Shringarpure45, Dai-Ying Wu46, German M. Demidov47,48,49, Olivier Delaneau50,51,52, Shuto Hayashi39, Seiya Imoto39, Nina Habermann8, Ayellet V. Segre3,53, Erik Garrison1, Andy Cafferkey7, Eva G. Alvarez42,43,44, José María Heredia-Genestar54, Francesc Muyas47,48,49, Oliver Drechsel47,49, Alicia L. Bruzos42,43,44, Javier Temes42,43, Jorge Zamora1,42,43,44, Adrian Baez-Ortega55, Hyung-Lae Kim56, R. Jay Mashl27,57, Kai Ye58,59, Anthony DiBiase60, Kuan-lin Huang27,61, Ivica Letunic62, Michael D. McLellan26,27,35, Steven J. Newhouse7, Tal Shmaya46, Sushant Kumar63,64, David C. Wedge1,65,66, Mark H. Wright45, Venkata D. Yellapantula67,68, Mark Gerstein63,64,69, Ekta Khurana70,71,72,73, Tomas Marques-Bonet74,75,76,77, Arcadi Navarro74,75,76, Carlos D. Bustamante45,78, Reiner Siebert79,80, Hidewaki Nakagawa81, Douglas F. Easton82,83, Stephan Ossowski47,48,49, Jose M. C. Tubio42,43,44, Francisco M. De La Vega45,46,78, Xavier Estivill47,84, Denis Yuen12, George L. Mihaiescu15, Larsson Omberg85, Vincent Ferretti15,86, Radhakrishnan Sabarinathan87,88,89, Oriol Pich87,89, Abel Gonzalez-Perez87,89, Amaro TaylorWeiner90, Matthew W. Fittall91, Jonas Demeulemeester91,92, Maxime Tarabichi1,91, Nicola D. Roberts1, Peter Van Loo91,92, Isidro Cortés-Ciriano93,94,95, Lara Urban7,8, Peter Park94,95, Bin Zhu96, Esa Pitkänen8, Yilong Li1, Natalie Saini97, Leszek J. Klimczak98, Joachim Weischenfeldt8,99,100, Nikos Sidiropoulos100, Ludmil B. Alexandrov1,101, Raquel Rabionet47,49,102, Georgia Escaramis47,103,104, Mattia Bosio40,47,49, Aliaksei Z. Holik47, Hana Susak47,49, Aparna Prasad49, Serap Erkek8, Claudia Calabrese7,8, Benjamin Raeder8, Eoghan Harrington105, Simon Mayes106, Daniel Turner106, Sissel Juul105, Steven A. Roberts107, Lei Song96, Roelof Koster108, Lisa Mirabello96, Xing Hua96, Tomas J. Tanskanen109, Marta Tojo44, Jieming Chen64,110, Lauri A. Aaltonen111, Gunnar Rätsch112,113,114,115,116,117, Roland F. Schwarz7,118,119,120, Atul J. Butte121, Alvis Brazma7, Stephen J. Chanock96, Nilanjan Chatterjee122,123, Oliver Stegle7,8,124, Olivier Harismendy125, G. Steven Bova126, Dmitry A. Gordenin97, David Haan9, Lina Sieverling127,128, Lars Feuerbach127, Don Chalmers129, Yann Joly130, Bartha Knoppers130, Fruzsina Molnár-Gábor131, Mark Phillips130, Adrian Thorogood130, David Townend130, Mary Goldman132, Nuno A. Fonseca7,133, Qian Xiang15, Brian Craft132, Elena Piñeiro-Yáñez134, Alfonso Muñoz7 , Robert Petryszak7, Anja Füllgrabe7, Fatima Al-Shahrour134, Maria Keays7 , David Haussler132,135, John Weinstein136,137, Wolfgang Huber8, Alfonso Valencia40,76, Irene Papatheodorou7, Jingchun Zhu132, Yu Fan32, David Torrents40,76, Matthias Bieg138,139, Ken Chen140, Zechen Chong141, Kristian Cibulskis3, Roland Eils28,30,142,143, Robert S. Fulton26,27,35, Josep L. Gelpi40,144, Santiago Gonzalez7,8, Ivo G. Gut49,74, Faraz Hach145,146, Michael Heinold28,30, Taobo Hu147, Vincent Huang12, Barbara Hutter139,148,149, Natalie Jäger28, Jongsun Jung150, Yogesh Kumar147, Christopher Lalansingh12, Ignaty Leshchiner3, Dimitri Livitz3, Eric Z. Ma147, Yosef E. Maruvka3,19,151, Ana Milovanovic40, Morten Muhlig Nielsen152, Nagarajan Paramasivam28,139, Jakob Skou Pedersen152,153, Montserrat Puiggròs40, S. Cenk Sahinalp146,154,155, Iman Sarrafi146,155, Chip Stewart3, Miranda D. Stobbe49,74, Jeremiah A. Wala3,6,156, Jiayin Wang27,58,157, Michael Wendl27,158,159, Johannes Werner28,160, Zhenggang Wu147, Hong Xue147, Takafumi N. Yamaguchi12, Venkata Yellapantula67,68, Brandi N. Davis-Dusenbery161, Robert L. Grossman162, Youngwook Kim163,164, Michael C. Heinold28,30, Jonathan Hinton1, David R. Jones1, Andrew Menzies1, Lucy Stebbings1, Julian M. Hess3,151, Mara Rosenberg3,19, Andrew J. Dunford3, Manaswi Gupta3, Marcin Imielinski165,166, Matthew Meyerson3,6,156, Rameen Beroukhim3,6,167, Jüri Reimand12,18, Priyanka Dhingra71,73, Francesco Favero168, Stefan Dentro1,65,91, Jeff Wintersinger169,170,171, Vasilisa Rudneva8, Ji Wan Park172, Eun Pyo Hong172, Seong Gu Heo172, André Kahles112,113,114,115,116, Kjong-Van Lehmann112,114,115,173,174, Cameron M. Soulette37, Yuichi Shiraishi39, Fenglin Liu175,176, Yao He175, Deniz Demircioğlu177,178, Natalie R. Davidson112,114,115,117,173, Liliana Greger7, Siliang Li179,180, Dongbing Liu179,180, Stefan G. Stark115,173,181,182, Fan Zhang175, Samirkumar B. Amin183,184,185, Peter Bailey186, Aurélien Chateigner15, Milana Frenkel-Morgenstern187, Yong Hou179,180, Matthew R. Huska118, Helena Kilpinen188, Fabien C. Lamaze12, Chang Li179,180, Xiaobo Li179,180, Xinyue Li179, Xingmin Liu179,180, Maximillian G. Marin37, Julia Markowski118, Tannistha Nandi189, Akinyemi I. Ojesina190,191,192, Qiang Pan-Hammarström179,193, Peter J. Park94,95, Chandra Sekhar Pedamallu3,6,167, Hong Su179,180, Patrick Tan189,194,195,196, Bin Tean Teh194,195,196,197,198, Jian Wang179, Heng Xiong179,180, Chen Ye179,180, Christina Yung15, Xiuqing Zhang179, Liangtao Zheng175, Shida Zhu179,180, Philip Awadalla12,13, Chad J. Creighton199, Kui Wu179,180, Huanming Yang179, Jonathan Göke177,200, Zemin Zhang175,201, Angela N. Brooks3,37,156, Matthew W Fittall91, Iñigo Martincorena1, Carlota Rubio-Perez87,89,202, Malene Juul152, Steven Schumacher3,203, Ofer Shapira3,156, David Tamborero87,89, Loris Mularoni87,89, Henrik Hornshøj152, Jordi Deu-Pons89,204, Ferran Muiños87,89, Johanna Bertl152,205, Qianyun Guo153, Abel Gonzalez-Perez87,89,206, Qian Xiang207, Wojciech Bazant7, Elisabet Barrera7, Sultan T. Al-Sedairy208, Axel Aretz209, Cindy Bell210, Miguel Betancourt211, Christiane Buchholz212, Fabien Calvo213, Christine Chomienne214, Michael Dunn215, Stuart Edmonds216, Eric Green217, Shailja Gupta218, Carolyn M. Hutter217, Karine Jegalian219, Nic Jones220, Youyong Lu221,222,223, Hitoshi Nakagama224, Gerd Nettekoven225, Laura Planko225, David Scott220, Tatsuhiro Shibata226,227, Kiyo Shimizu228, Michael R. Stratton1 , Takashi Yugawa228, Giampaolo Tortora229,230, K. VijayRaghavan218, Jean C. Zenklusen231, David Townend232, Bartha M. Knoppers130, Brice Aminou15, Javier Bartolome40, Keith A. Boroevich81,233, Rich Boyce7, Alex Buchanan38, Niall J. Byrne15, Zhaohong Chen234, Sunghoon Cho235, Wan Choi236, Peter Clapham1, Michelle T. Dow234, Lewis Jonathan Dursi12,25, Juergen Eils142,143, Claudiu Farcas234, Nodirjon Fayzullaev15, Paul Flicek7, Allison P. Heath237, Oliver Hofmann238, Jongwhi H. Hong239, Thomas J. Hudson240,241, Daniel Hübschmann30,120,142,242,243, Sinisa Ivkovic244, Seung-Hyup Jeon236, Wei Jiao12, Rolf Kabbe28, Andre Kahles112,113,114,115,174, Jules N. A. Kerssemakers28, Hyunghwan Kim236, Jihoon Kim245, Michael Koscher246, Antonios Koures234, Milena Kovacevic244, Chris Lawerenz143, Jia Liu247, Sanja Mijalkovic244, Ana Mijalkovic Mijalkovic-Lazic244, Satoru Miyano39, Mia Nastic244, Jonathan Nicholson1 , David Ocana7 , Kazuhiro Ohi39, Lucila Ohno-Machado234, Todd D. Pihl248, Manuel Prinz28, Petar Radovic244, Charles Short7 , Heidi J. Sofia217, Jonathan Spring162, Adam J. Struck38, Nebojsa Tijanic244, David Vicente40, Zhining Wang231, Ashley Williams234, Youngchoon Woo236, Adam J. Wright12, Liming Yang231, Mark P. Hamilton249, Todd A. Johnson233, Abdullah Kahraman250,251,252, Manolis Kellis3,253, Paz Polak3,4,6, Richard Sallari3 , Nasa Sinnott-Armstrong3,45, Christian von Mering252,254, Sergi Beltran49,74, Daniela S. Gerhard255, Marta Gut49,74, Jean-Rémi Trotta74, Justin P. Whalley74, Beifang Niu256, Shadrielle M. G. Espiritu12, Shengjie Gao179, Yi Huang157,257, Christopher M. Lalansingh12, Jon W. Teague1 , Michael C. Wendl27,158,159, Federico Abascal1 , Gary D. Bader13, Pratiti Bandopadhayay3,258,259, Jonathan Barenboim12, Søren Brunak260,261, Joana CarlevaroFita262,263,264, Dimple Chakravarty265,266, Calvin Wing Yiu Chan28,128, Jung Kyoon Choi267, Klev Diamanti268, J. Lynn Fink40,269, Joan Frigola204, Carlo Gambacorti-Passerini270, Dale W. Garsed271, Nicholas J. Haradhvala3,19, Arif O. Harmanci64,272, Mohamed Helmy170, Carl Herrmann28,30,273, Asger Hobolth153,205, Ermin Hodzic155, Chen Hong127,128, Keren Isaev12,18, Jose M. G. Izarzugaza260, Rory Johnson263,274, Randi Istrup Juul152, Jaegil Kim3 , Jong K. Kim275, Jan Komorowski268,276, Andrés Lanzós263,264,274, Erik Larsson112, Donghoon Lee64, Shantao Li64, Xiaotong Li64, Ziao Lin3,277, Eric Minwei Liu71,73,278, Lucas Lochovsky63,64,185, Shaoke Lou63,64, Tobias Madsen152, Kathleen Marchal279,280, Alexander MartinezFundichely71,72,73, Patrick D. McGillivray63, William Meyerson64,281, Marta Paczkowska12, Keunchil Park282,283, Kiejung Park284, Tirso Pons285, Sergio Pulido-Tamayo279,280, Iker ReyesSalazar87, Matthew A. Reyna286, Mark A. Rubin274,287,288,289,290, Leonidas Salichos63,64, Chris Sander112,156,291,292, Steven E. Schumacher3,203, Mark Shackleton271, Ciyue Shen292,293, Raunak Shrestha146, Shimin Shuai12,13, Tatsuhiko Tsunoda233,294,295,296, Husen M. Umer268,297, Liis Uusküla-Reimand298,299, Lieven P. C. Verbeke280,300, Claes Wadelius301, Lina Wadi12, Jonathan Warrell63,64, Guanming Wu302, Jun Yu303, Jing Zhang64, Xuanping Zhang157,304, Yan Zhang64,305,306, Zhongming Zhao307, Lihua Zou308, Michael S. Lawrence3,19,233, Benjamin J. Raphael286, Peter J. Bailey186, David Craft3,309, Mary J. Goldman132, Hiroyuki Aburatani310, Hans Binder311,312, Huy Q. Dinh313, Simon C. Heath49,74, Steve Hoffmann311,312,314,315, Charles David Imbusch127, Helene Kretzmer312,315, Peter W. Laird316, Jose I. Martin-Subero76,317, Genta Nagae310,318, Hui Shen319, Qi Wang246, Dieter Weichenhan320, Wanding Zhou319, Benjamin P. Berman313,321,322, Benedikt Brors127,149,323, Christoph Plass320, Kadir C. Akdemir140, David D. L. Bowtell271, Kathleen H. Burns324,325, John Busanovich3,326, Kin Chan327, Ana Dueso-Barroso40, Paul A. Edwards328,329, Dariush Etemadmoghadam271, James E. Haber330, David T. W. Jones331,332, Young Seok Ju1,267, Marat D. Kazanov333,334,335, Youngil Koh336,337, Kiran Kumar3 , Eunjung Alice Lee338, Jake June-Koo Lee94,95, Andy G. Lynch328,329,339, Geoff Macintyre328, Florian Markowetz328,329, Fabio C. P. Navarro63, John V. Pearson340,341, Karsten Rippe120, Ralph Scully342, Izar Villasante40, Nicola Waddell340,341, Lixing Yang343, Xiaotong Yao165,344, Sung-Soo Yoon337, Cheng-Zhong Zhang3,6,156, Erik N. Bergstrom345, Arnoud Boot195,346, Kyle Covington34, Akihiro Fujimoto81, Mi Ni Huang195,346, S. M. Ashiqul Islam101, John R. 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Drews328, Moritz Gerstung7,8, Gavin Ha3 , Kerstin Haase91, Lara Jerman8,375, Yuan Ji376,377, Clemency Jolly91, Juhee Lee378, Henry Lee-Six1 , Salem Malikic146,155, Thomas J. Mitchell1,329,379, Quaid D. Morris171,380, Layla Oesper381, Martin Peifer373, Myron Peto382, Daniel Rosebrock3 , Yulia Rubanova36,171, Adriana Salcedo12, Subhajit Sengupta383, Ruian Shi380, Seung Jun Shin182, Oliver Spiro3 , Shankar Vembu380,384, Jeffrey A. Wintersinger169,170,171, Tsun-Po Yang373, Kaixian Yu385, Hongtu Zhu386,387, Paul T. Spellman388, John N. Weinstein136,137, Yiwen Chen32, Masashi Fujita81, Leng Han304, Takanori Hasegawa39, Mitsuhiro Komura39, Jun Li32, Shinichi Mizuno389, Eigo Shimizu39, Yumeng Wang32,390, Yanxun Xu391, Rui Yamaguchi39, Fan Yang380, Yang Yang304, Christopher J. Yoon267, Yuan Yuan32, Han Liang32, Malik Alawi392,393, Ivan Borozan12, Daniel S. Brewer394,395, Colin S. Cooper395,396,397, Nikita Desai15, Adam Grundhoff392,398, Murat Iskar399, Xiaoping Su400, Marc Zapatka399, Peter Lichter148,399, Kathryn Alsop271, Timothy J. C. Bruxner269, Angelika N. Christ269, Stephen M. Cordner401, Prue A. Cowin402, Ronny Drapkin403, Sian Fereday402, Joshy George185, Anne Hamilton402, Oliver Holmes340,341, Jillian A. Hung404,405, Karin S. Kassahn269,406, Stephen H. Kazakoff340,341, Catherine J. Kennedy407,408, Conrad R. Leonard340,341, Linda Mileshkin271, David K. Miller269,355,409, Gisela Mir Arnau402, Chris Mitchell402, Felicity Newell340,341, Katia Nones340,341, Ann-Marie Patch340,341, Michael C. Quinn340,341, Darrin F. Taylor269, Heather Thorne402, Nadia Traficante402, Ravikiran Vedururu402, Nick M. Waddell341, Paul M. Waring410, Scott Wood340,341, Qinying Xu340,341, Anna deFazio411,412,413, Matthew J. Anderson269, Davide Antonello414, Andrew P. Barbour415,416, Claudio Bassi414, Samantha Bersani417, Ivana Cataldo417,418, Lorraine A. Chantrill355,419, Yoke-Eng Chiew411, Angela Chou355,420, Sara Cingarlini229, Nicole Cloonan421, Vincenzo Corbo418,422, Maria Vittoria Davi423, Fraser R. Duthie186,424, Anthony J. Gill355,420, Janet S. Graham186,425, Ivon Harliwong269, Nigel B. Jamieson186,367,426, Amber L. Johns355,409, James G. Kench355,420,427, Luca Landoni414, Rita T. Lawlor418, Andrea Mafficini418, Neil D. Merrett414,428, Marco Miotto414, Elizabeth A. Musgrove186, Adnan M. Nagrial355, Karin A. Oien410,429, Marina Pajic355, Mark Pinese430, Alan J. Robertson269, Ilse Rooman355, Borislav C. Rusev418, Jaswinder S. Samra414,420, Maria Scardoni417, Christopher J. Scarlett355,431, Aldo Scarpa418, Elisabetta Sereni414, Katarzyna O. Sikora418, Michele Simbolo422, Morgan L. Taschuk15, Christopher W. Toon355, Caterina Vicentini418, Jianmin Wu355, Nikolajs Zeps432,433, Andreas Behren434, Hazel Burke435, Jonathan Cebon434, Rebecca A. Dagg436, Ricardo De Paoli-Iseppi437, Ken Dutton-Regester340, Matthew A. Field438, Anna Fitzgerald439, Peter Hersey435, Valerie Jakrot435, Peter A. Johansson340, Hojabr Kakavand437, Richard F. Kefford440, Loretta M. S. Lau441, Georgina V. Long442, Hilda A. Pickett441, Antonia L. Pritchard340, Gulietta M. Pupo443, Robyn P. M. Saw442, Sarah-Jane Schramm444, Catherine A. Shang439, Ping Shang442, Andrew J. Spillane442, Jonathan R. Stretch442, Varsha Tembe411,444, John F. Thompson442, Ricardo E. Vilain445, James S. Wilmott442, Jean Y. Yang446, Nicholas K. Hayward340,435, Graham J. Mann411,447, Richard A. Scolyer412,442,445,448, John Bartlett449,450, Prashant Bavi451, Dianne E. Chadwick452, Michelle Chan-Seng-Yue451, Sean Cleary451,453, Ashton A. Connor453,454, Karolina Czajka241, Robert E. Denroche451, Neesha C. Dhani455, Jenna Eagles241, Steven Gallinger451,453,454, Robert C. Grant451,454, David Hedley455, Michael A. Hollingsworth456, Gun Ho Jang451, Jeremy Johns241, Sangeetha Kalimuthu451, Sheng-Ben Liang457, Ilinca Lungu451,458, Xuemei Luo12, Faridah Mbabaali241, Treasa A. McPherson454, Jessica K. Miller241, Malcolm J. Moore455, Faiyaz Notta451,459, Danielle Pasternack241, Gloria M. Petersen460, Michael H. A. Roehrl18,451,461,462,463, Michelle Sam241, Iris Selander454, Stefano Serra410, Sagedeh Shahabi457, Sarah P. Thayer456, Lee E. Timms241, Gavin W. Wilson12,451, Julie M. Wilson451, Bradly G. Wouters464, John D. McPherson241,451,465, Timothy A. Beck15,466, Vinayak Bhandari12, Colin C. Collins146, Neil E. Fleshner467, Natalie S. Fox12, Michael Fraser12, Lawrence E. Heisler468, Emilie Lalonde12, Julie Livingstone12, Alice Meng469, Veronica Y. Sabelnykova12, Yu-Jia Shiah12, Theodorus Van der Kwast470, Robert G. Bristow18,471,472,473,474, Shuai Ding475, Daiming Fan476, Lin Li179, Yongzhan Nie476,477, Xiao Xiao157, Rui Xing222,478, Shanlin Yang475, Yingyan Yu479, Yong Zhou179, Rosamonde E. Banks480, Guillaume Bourque481,482, Paul Brennan483, Louis Letourneau484, Yasser Riazalhosseini482, Ghislaine Scelo483, Naveen Vasudev480,485, Juris Viksna486, Mark Lathrop482, Jörg Tost487, Sung-Min Ahn488, Samuel Aparicio489, Laurent Arnould490, M. R. Aure491, Shriram G. Bhosle1 , Ewan Birney7 , Ake Borg492, Sandrine Boyault493, Arie B. Brinkman494, Jane E. Brock495, Annegien Broeks496, Anne-Lise Børresen-Dale491, Carlos Caldas497,498, Suet-Feung Chin497,498, Helen Davies1,360,361, Christine Desmedt499,500, Luc Dirix501, Serge Dronov1 , Anna Ehinger502, Jorunn E. Eyfjord503, Aquila Fatima203, John A. Foekens504, P. Andrew Futreal505, Øystein Garred506,507, Dilip D. Giri508, Dominik Glodzik1 , Dorthe Grabau509, Holmfridur Hilmarsdottir503, Gerrit K. Hooijer510, Jocelyne Jacquemier511, Se Jin Jang512, Jon G. Jonasson503, Jos Jonkers513, Hyung-Yong Kim511, Tari A. King514,515, Stian Knappskog1,516, Gu Kong511, Savitri Krishnamurthy517, Sunil R. Lakhani518, Anita Langerød491, Denis Larsimont519, Hee Jin Lee512, Jeong-Yeon Lee520, Ming Ta Michael Lee505, Ole Christian Lingjærde521, Gaetan MacGrogan522, John W. M. Martens504, Sarah O’Meara1 , Iris Pauporté214, Sarah Pinder523, Xavier Pivot524, Elena Provenzano525, Colin A. Purdie526, Manasa Ramakrishna1 , Kamna Ramakrishnan1 , Jorge Reis-Filho508, Andrea L. Richardson203, Markus Ringnér492, Javier Bartolomé Rodriguez40, F. Germán Rodríguez-González261, Gilles Romieu527, Roberto Salgado410, Torill Sauer521, Rebecca Shepherd1 , Anieta M. Sieuwerts504, Peter T. Simpson518, Marcel Smid504, Christos Sotiriou234, Paul N. Span528, Ólafur Andri Stefánsson529, Alasdair Stenhouse530, Henk G. Stunnenberg180,531, Fred Sweep532, Benita Kiat Tee Tan533, Gilles Thomas534, Alastair M. Thompson530, Stefania Tommasi535, Isabelle Treilleux536,537, Andrew Tutt203, Naoto T. Ueno387, Steven Van Laere501, Gert G. Van den Eynden501, Peter Vermeulen501, Alain Viari418, Anne Vincent-Salomon531, Bernice H. Wong538, Lucy Yates1 , Xueqing Zou1 , Carolien H. M. van Deurzen539, Marc J. van de Vijver410, Laura van’t Veer540, Ole Ammerpohl541,542,543, Sietse Aukema542,543,544, Anke K. Bergmann545, Stephan H. Bernhart311,312,315, Arndt Borkhardt546, Christoph Borst547, Birgit Burkhardt548, Alexander Claviez549, Maria Elisabeth Goebler550, Andrea Haake541, Siegfried Haas547, Martin Hansmann551, Jessica I. Hoell546, Michael Hummel552, Dennis Karsch553, Wolfram Klapper544, Michael Kneba553, Markus Kreuz554, Dieter Kube555, Ralf Küppers556, Dido Lenze552, Markus Loeffler554, Cristina López80,541, Luisa Mantovani-Löffler557, Peter Möller558, German Ott559, Bernhard Radlwimmer399, Julia Richter541,544, Marius Rohde560, Philip C. Rosenstiel561, Andreas Rosenwald562, Markus B. Schilhabel561, Stefan Schreiber563, Peter F. Stadler311,312,315, Peter Staib564, Stephan Stilgenbauer565, Stephanie Sungalee8 , Monika Szczepanowski544, Umut H. Toprak30,566, Lorenz H. P. Trümper555, Rabea Wagener80,541, Thorsten Zenz149, Volker Hovestadt399, Christof von Kalle120, Marcel Kool246,331, Andrey Korshunov246, Pablo Landgraf567,568, Hans Lehrach569, Paul A. Northcott570, Stefan M. Pfister246,331,571, Guido Reifenberger568, Hans-Jörg Warnatz569, Stephan Wolf572, Marie-Laure Yaspo569, Yassen Assenov573, Clarissa Gerhauser320, Sarah Minner574, Thorsten Schlomm99,575, Ronald Simon576, Guido Sauter576, Holger Sültmann149,577, Nidhan K. Biswas578, Arindam Maitra578, Partha P. Majumder578, Rajiv Sarin579, Stefano Barbi422, Giada Bonizzato418, Cinzia Cantù418, Angelo P. Dei Tos580, Matteo Fassan581, Sonia Grimaldi418, Claudio Luchini417, Giuseppe Malleo414, Giovanni Marchegiani414, Michele Milella229, Salvatore Paiella414, Antonio Pea414, Paolo Pederzoli414, Andrea Ruzzenente414, Roberto Salvia414, Nicola Sperandio418, Yasuhito Arai226, Natsuko Hama226, Nobuyoshi Hiraoka582, Fumie Hosoda226, Hiromi Nakamura226, Hidenori Ojima583, Takuji Okusaka584, Yasushi Totoki226, Tomoko Urushidate227, Masashi Fukayama585, Shumpei Ishikawa586, Hitoshi Katai587, Hiroto Katoh586, Daisuke Komura586, Hirofumi Rokutan358, Mihoko Saito-Adachi358, Akihiro Suzuki310,588, Hirokazu Taniguchi589, Kenji Tatsuno310, Tetsuo Ushiku585, Shinichi Yachida226,590, Shogo Yamamoto310, Hiroshi Aikata591, Koji Arihiro591, Shun-ichi Ariizumi592, Kazuaki Chayama591, Mayuko Furuta81, Kunihito Gotoh593, Shinya Hayami594, Satoshi Hirano595, Yoshiiku Kawakami591, Kazuhiro Maejima81, Toru Nakamura595, Kaoru Nakano81, Hideki Ohdan591, Aya Sasaki-Oku81, Hiroko Tanaka39, Masaki Ueno594, Masakazu Yamamoto592, Hiroki Yamaue594, Su Pin Choo596, Ioana Cutcutache195,346, Narong Khuntikeo414,597, Choon Kiat Ong598, Chawalit Pairojkul410, Irinel Popescu599, Keun Soo Ahn600, Marta Aymerich601, Armando Lopez-Guillermo602, Carlos López-Otín603, Xose S. Puente603, Elias Campo604,605, Fernanda Amary606, Daniel Baumhoer607, Sam Behjati1 , Bodil Bjerkehagen607,608, P. A. Futreal505, Ola Myklebost516, Nischalan Pillay609, Patrick Tarpey610, Roberto Tirabosco611, Olga Zaikova612, Adrienne M. Flanagan613, Jacqueline Boultwood614, David T. Bowen1 , Mario Cazzola615, Anthony R. Green329, Eva Hellstrom-Lindberg616, Luca Malcovati615, Jyoti Nangalia617, Elli Papaemmanuil1 , Paresh Vyas340,618, Yeng Ang619, Hugh Barr620, Duncan Beardsmore621, Matthew Eldridge328, James Gossage622, Nicola Grehan361, George B. Hanna623, Stephen J. Hayes624,625, Ted R. Hupp626, David Khoo627, Jesper Lagergren616,628, Laurence B. Lovat188, Shona MacRae136, Maria O’Donovan361, J. Robert O’Neill629, Simon L. Parsons630, Shaun R. Preston631, Sonia Puig632, Tom Roques633, Grant Sanders24, Sharmila Sothi634, Simon Tavaré328, Olga Tucker635, Richard Turkington636, Timothy J. Underwood637, Ian Welch638, Rebecca C. Fitzgerald361, Daniel M. Berney639, Johann S. De Bono396, Declan Cahill640, Niedzica Camacho396, Nening M. Dennis640, Tim Dudderidge640,641, Sandra E. Edwards396, Cyril Fisher640, Christopher S. Foster642,643, Mohammed Ghori1 , Pelvender Gill618, Vincent J. Gnanapragasam379,644, Gunes Gundem278, Freddie C. Hamdy645, Steve Hawkins328, Steven Hazell640, William Howat379, William B. Isaacs646, Katalin Karaszi618, Jonathan D. Kay188, Vincent Khoo640, Zsofia Kote-Jarai396, Barbara Kremeyer1 , Pardeep Kumar640, Adam Lambert618, Daniel A. Leongamornlert1,396, Naomi Livni640, Yong-Jie Lu639,647, Hayley J. Luxton188, Luke Marsden618, Charlie E. Massie328, Lucy Matthews396, Erik Mayer640,648, Ultan McDermott1 , Sue Merson396, David E. Neal328,379, Anthony Ng649, David Nicol640, Christopher Ogden640, Edward W. Rowe640, Nimish C. Shah379, Sarah Thomas640, Alan Thompson640, Clare Verrill618,650, Tapio Visakorpi126, Anne Y. Warren379,651, Hayley C. Whitaker188, Hongwei Zhang647, Nicholas van As640, Rosalind A. Eeles396,640, Adam Abeshouse278, Nishant Agrawal162, Rehan Akbani361,652, Hikmat AlAhmadie278, Monique Albert450, Kenneth Aldape400,653, Adrian Ally654, Elizabeth L. Appelbaum27,188, Joshua Armenia655, Sylvia Asa630,656, J. Todd Auman657, Miruna Balasundaram654, Saianand Balu24, Jill Barnholtz-Sloan658,659, Oliver F. Bathe660,661, Stephen B. Baylin123,641, Christopher Benz662, Andrew Berchuck663, Mario Berrios664, Darell Bigner665, Michael Birrer19, Tom Bodenheimer24, Lori Boice632, Moiz S. Bootwalla664, Marcus Bosenberg666, Reanne Bowlby654, Jeffrey Boyd667, Russell R. Broaddus400, Malcolm Brock668, Denise Brooks654, Susan Bullman3,167, Samantha J. Caesar-Johnson231, Thomas E. Carey669, Rebecca Carlsen654, Robert Cerfolio670, Vishal S. Chandan671, Hsiao-Wei Chen619,655, Andrew D. Cherniack3,156,167, Jeremy Chien672, Juok Cho3 , Eric Chuah654, Carrie Cibulskis3 , Leslie Cope673, Matthew G. Cordes27,633, Erin Curley674, Bogdan Czerniak400,627, Ludmila Danilova673, Ian J. Davis675, Timothy Defreitas3 , John A. Demchok231, Noreen Dhalla654, Rajiv Dhir676, HarshaVardhan Doddapaneni34, Adel El-Naggar400,627, Ina Felau231, Martin L. Ferguson677, Gaetano Finocchiaro678, Kwun M. Fong679, Scott Frazer3 , William Friedman680, Catrina C. Fronick27,633, Lucinda A. Fulton27, Stacey B. Gabriel3 , Jianjiong Gao655, Nils Gehlenborg3,681, Jeffrey E. Gershenwald682,683, Ronald Ghossein508, Nasra H. Giama684, Richard A. Gibbs34, Carmen Gomez685, Ramaswamy Govindan26, D. Neil Hayes24,686,687, Apurva M. Hegde136,137, David I. Heiman3 , Zachary Heins278, Austin J. Hepperla24, Andrea Holbrook664, Robert A. Holt654, Alan P. Hoyle24, Ralph H. Hruban673, Jianhong Hu34, Mei Huang632, David Huntsman688, Jason Huse278, Christine A. IacobuzioDonahue508, Michael Ittmann689,690, Joy C. Jayaseelan34, Stuart R. Jefferys24, Corbin D. Jones691, Steven J. M. Jones692, Hartmut Juhl693, Koo Jeong Kang694, Beth Karlan695, Katayoon Kasaian692, Electron Kebebew696,697, Hark Kyun Kim698, Viktoriya Korchina34, Ritika Kundra619,655, Phillip H. Lai664, Eric Lander3 , Xuan Le699, Darlene Lee654, Douglas A. Levine278,700, Lora Lewis34, Tim Ley701, Haiyan Irene Li654, Pei Lin3 , W. M. Linehan702, Fei Fei Liu380, Yiling Lu137, Lisa Lype703, Yussanne Ma654, Dennis T. Maglinte664,704, Elaine R. Mardis27,667,705, Jeffrey Marks414,706, Marco A. Marra654, Thomas J. Matthew37, Michael Mayo654, Karen McCune707, Samuel R. Meier3 , Shaowu Meng24, Piotr A. Mieczkowski23, Tom Mikkelsen708, Christopher A. Miller27, Gordon B. Mills709, Richard A. Moore654, Carl Morrison410,710, Lisle E. Mose24, Catherine D. Moser684, Andrew J. Mungall654, Karen Mungall654, David Mutch711, Donna M. Muzny712, Jerome Myers713, Yulia Newton37, Michael S. Noble3 , Peter O’Donnell714, Brian Patrick O’Neill715, Angelica Ochoa278, Joong-Won Park716, Joel S. Parker717, Harvey Pass718, Alessandro Pastore112, Nathan A. Pennell719, Charles M. Perou720, Nicholas Petrelli721, Olga Potapova722, Janet S. Rader723, Suresh Ramalingam724, W. Kimryn Rathmell725, Victor Reuter508, Sheila M. Reynolds703, Matthew Ringel726, Jeffrey Roach727, Lewis R. Roberts684, A. Gordon Robertson654, Sara Sadeghi654, Charles Saller728, Francisco Sanchez-Vega619,655, Dirk Schadendorf148,729, Jacqueline E. Schein654, Heather K. Schmidt27, Nikolaus Schultz655, Raja Seethala730, Yasin Senbabaoglu112, Troy Shelton674, Yan Shi24, Juliann Shih3,167, Ilya Shmulevich703, Craig Shriver731, Sabina Signoretti167,263,732, Janae V. Simons24, Samuel Singer414,733, Payal Sipahimalani654, Tara J. Skelly23, Karen SmithMcCune707, Nicholas D. Socci112, Matthew G. Soloway717, Anil K. Sood734, Angela Tam654, Donghui Tan23, Roy Tarnuzzer231, Nina Thiessen654, R. Houston Thompson735, Leigh B. Thorne632, Ming Tsao630,656, Christopher Umbricht324,621,736, David J. Van Den Berg664, Erwin G. Van Meir737, Umadevi Veluvolu23, Douglas Voet3 , Linghua Wang34, Paul Weinberger738, Daniel J. Weisenberger664, Dennis Wigle739, Matthew D. Wilkerson23, Richard K. Wilson27,740, Boris Winterhoff741, Maciej Wiznerowicz742,743, Tina Wong27,654, Winghing Wong744, Liu Xi34, Christina Yau662, Hailei Zhang3 , Hongxin Zhang655 & Jiashan Zhang231
Publisher version (URL)http://dx.doi.org/10.1038/s41586-020-1969-6
URIhttp://hdl.handle.net/10261/236863
Identifiersdoi: 10.1038/s41586-020-1969-6
e-issn: 1476-4687
issn: 0028-0836
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