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IRIS
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). 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(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).
Pan-cancer analysis of whole genomes
Peter J Campbell;Gad Getz;Jan O Korbel;Joshua M Stuart;Jennifer L Jennings;Lincoln D Stein;Marc D Perry;Hardeep K Nahal-Bose;B F Francis Ouellette;Constance H Li;Esther Rheinbay;G Petur Nielsen;Dennis C Sgroi;Chin-Lee Wu;William C Faquin;Vikram Deshpande;Paul C Boutros;Alexander J Lazar;Katherine A Hoadley;David N Louis;L Jonathan Dursi;Christina K Yung;Matthew H Bailey;Gordon Saksena;Keiran M Raine;Ivo Buchhalter;Kortine Kleinheinz;Matthias Schlesner;Junjun Zhang;Wenyi Wang;David A Wheeler;Li Ding;Jared T Simpson;Brian D O'Connor;Sergei Yakneen;Kyle Ellrott;Naoki Miyoshi;Adam P Butler;Romina Royo;Solomon I Shorser;Miguel Vazquez;Tobias Rausch;Grace Tiao;Sebastian M Waszak;Bernardo Rodriguez-Martin;Suyash Shringarpure;Dai-Ying Wu;German M Demidov;Olivier Delaneau;Shuto Hayashi;Seiya Imoto;Nina Habermann;Ayellet V Segre;Erik Garrison;Andy Cafferkey;Eva G Alvarez;José María Heredia-Genestar;Francesc Muyas;Oliver Drechsel;Alicia L Bruzos;Javier Temes;Jorge Zamora;Adrian Baez-Ortega;Hyung-Lae Kim;R Jay Mashl;Kai Ye;Anthony DiBiase;Kuan-Lin Huang;Ivica Letunic;Michael D McLellan;Steven J Newhouse;Tal Shmaya;Sushant Kumar;David C Wedge;Mark H Wright;Venkata D Yellapantula;Mark Gerstein;Ekta Khurana;Tomas Marques-Bonet;Arcadi Navarro;Carlos D Bustamante;Reiner Siebert;Hidewaki Nakagawa;Douglas F Easton;Stephan Ossowski;Jose M C Tubio;Francisco M De La Vega;Xavier Estivill;Denis Yuen;George L Mihaiescu;Larsson Omberg;Vincent Ferretti;Radhakrishnan Sabarinathan;Oriol Pich;Abel Gonzalez-Perez;Amaro Taylor-Weiner;Matthew W Fittall;Jonas Demeulemeester;Maxime Tarabichi;Nicola D Roberts;Peter Van Loo;Isidro Cortés-Ciriano;Lara Urban;Peter Park;Bin Zhu;Esa Pitkänen;Yilong Li;Natalie Saini;Leszek J Klimczak;Joachim Weischenfeldt;Nikos Sidiropoulos;Ludmil B Alexandrov;Raquel Rabionet;Georgia Escaramis;Mattia Bosio;Aliaksei Z Holik;Hana Susak;Aparna Prasad;Serap Erkek;Claudia Calabrese;Benjamin Raeder;Eoghan Harrington;Simon Mayes;Daniel Turner;Sissel Juul;Steven A Roberts;Lei Song;Roelof Koster;Lisa Mirabello;Xing Hua;Tomas J Tanskanen;Marta Tojo;Jieming Chen;Lauri A Aaltonen;Gunnar Rätsch;Roland F Schwarz;Atul J Butte;Alvis Brazma;Stephen J Chanock;Nilanjan Chatterjee;Oliver Stegle;Olivier Harismendy;G Steven Bova;Dmitry A Gordenin;David Haan;Lina Sieverling;Lars Feuerbach;Don Chalmers;Yann Joly;Bartha Knoppers;Fruzsina Molnár-Gábor;Mark Phillips;Adrian Thorogood;David Townend;Mary Goldman;Nuno A Fonseca;Qian Xiang;Brian Craft;Elena Piñeiro-Yáñez;Alfonso Muñoz;Robert Petryszak;Anja Füllgrabe;Fatima Al-Shahrour;Maria Keays;David Haussler;John Weinstein;Wolfgang Huber;Alfonso Valencia;Irene Papatheodorou;Jingchun Zhu;Yu Fan;David Torrents;Matthias Bieg;Ken Chen;Zechen Chong;Kristian Cibulskis;Roland Eils;Robert S Fulton;Josep L Gelpi;Santiago Gonzalez;Ivo G Gut;Faraz Hach;Michael Heinold;Taobo Hu;Vincent Huang;Barbara Hutter;Natalie Jäger;Jongsun Jung;Yogesh Kumar;Christopher Lalansingh;Ignaty Leshchiner;Dimitri Livitz;Eric Z Ma;Yosef E Maruvka;Ana Milovanovic;Morten Muhlig Nielsen;Nagarajan Paramasivam;Jakob Skou Pedersen;Montserrat Puiggròs;S Cenk Sahinalp;Iman Sarrafi;Chip Stewart;Miranda D Stobbe;Jeremiah A Wala;Jiayin Wang;Michael Wendl;Johannes Werner;Zhenggang Wu;Hong Xue;Takafumi N Yamaguchi;Venkata Yellapantula;Brandi N Davis-Dusenbery;Robert L Grossman;Youngwook Kim;Michael C Heinold;Jonathan Hinton;David R Jones;Andrew Menzies;Lucy Stebbings;Julian M Hess;Mara Rosenberg;Andrew J Dunford;Manaswi Gupta;Marcin Imielinski;Matthew Meyerson;Rameen Beroukhim;Jüri Reimand;Priyanka Dhingra;Francesco Favero;Stefan Dentro;Jeff Wintersinger;Vasilisa Rudneva;Ji Wan Park;Eun Pyo Hong;Seong Gu Heo;André Kahles;Kjong-Van Lehmann;Cameron M Soulette;Yuichi Shiraishi;Fenglin Liu;Yao He;Deniz Demircioğlu;Natalie R Davidson;Liliana Greger;Siliang Li;Dongbing Liu;Stefan G Stark;Fan Zhang;Samirkumar B Amin;Peter Bailey;Aurélien Chateigner;Milana Frenkel-Morgenstern;Yong Hou;Matthew R Huska;Helena Kilpinen;Fabien C Lamaze;Chang Li;Xiaobo Li;Xinyue Li;Xingmin Liu;Maximillian G Marin;Julia Markowski;Tannistha Nandi;Akinyemi I Ojesina;Qiang Pan-Hammarström;Peter J Park;Chandra Sekhar Pedamallu;Hong Su;Patrick Tan;Bin Tean Teh;Jian Wang;Heng Xiong;Chen Ye;Christina Yung;Xiuqing Zhang;Liangtao Zheng;Shida Zhu;Philip Awadalla;Chad J Creighton;Kui Wu;Huanming Yang;Jonathan Göke;Zemin Zhang;Angela N Brooks;Matthew W Fittall;Iñigo Martincorena;Carlota Rubio-Perez;Malene Juul;Steven Schumacher;Ofer Shapira;David Tamborero;Loris Mularoni;Henrik Hornshøj;Jordi Deu-Pons;Ferran Muiños;Johanna Bertl;Qianyun Guo;Abel Gonzalez-Perez;Qian Xiang;Wojciech Bazant;Elisabet Barrera;Sultan T Al-Sedairy;Axel Aretz;Cindy Bell;Miguel Betancourt;Christiane Buchholz;Fabien Calvo;Christine Chomienne;Michael Dunn;Stuart Edmonds;Eric Green;Shailja Gupta;Carolyn M Hutter;Karine Jegalian;Nic Jones;Youyong Lu;Hitoshi Nakagama;Gerd Nettekoven;Laura Planko;David Scott;Tatsuhiro Shibata;Kiyo Shimizu;Michael R Stratton;Takashi Yugawa;Giampaolo Tortora;K VijayRaghavan;Jean C Zenklusen;David Townend;Bartha M Knoppers;Brice Aminou;Javier Bartolome;Keith A Boroevich;Rich Boyce;Alex Buchanan;Niall J Byrne;Zhaohong Chen;Sunghoon Cho;Wan Choi;Peter Clapham;Michelle T Dow;Lewis Jonathan Dursi;Juergen Eils;Claudiu Farcas;Nodirjon Fayzullaev;Paul Flicek;Allison P Heath;Oliver Hofmann;Jongwhi H Hong;Thomas J Hudson;Daniel Hübschmann;Sinisa Ivkovic;Seung-Hyup Jeon;Wei Jiao;Rolf Kabbe;Andre Kahles;Jules N A Kerssemakers;Hyunghwan Kim;Jihoon Kim;Michael Koscher;Antonios Koures;Milena Kovacevic;Chris Lawerenz;Jia Liu;Sanja Mijalkovic;Ana Mijalkovic Mijalkovic-Lazic;Satoru Miyano;Mia Nastic;Jonathan Nicholson;David Ocana;Kazuhiro Ohi;Lucila Ohno-Machado;Todd D Pihl;Manuel Prinz;Petar Radovic;Charles Short;Heidi J Sofia;Jonathan Spring;Adam J Struck;Nebojsa Tijanic;David Vicente;Zhining Wang;Ashley Williams;Youngchoon Woo;Adam J Wright;Liming Yang;Mark P Hamilton;Todd A Johnson;Abdullah Kahraman;Manolis Kellis;Paz Polak;Richard Sallari;Nasa Sinnott-Armstrong;Christian von Mering;Sergi Beltran;Daniela S Gerhard;Marta Gut;Jean-Rémi Trotta;Justin P Whalley;Beifang Niu;Shadrielle M G Espiritu;Shengjie Gao;Yi Huang;Christopher M Lalansingh;Jon W Teague;Michael C Wendl;Federico Abascal;Gary D Bader;Pratiti Bandopadhayay;Jonathan Barenboim;Søren Brunak;Joana Carlevaro-Fita;Dimple Chakravarty;Calvin Wing Yiu Chan;Jung Kyoon Choi;Klev Diamanti;J Lynn Fink;Joan Frigola;Carlo Gambacorti-Passerini;Dale W Garsed;Nicholas J Haradhvala;Arif O Harmanci;Mohamed Helmy;Carl Herrmann;Asger Hobolth;Ermin Hodzic;Chen Hong;Keren Isaev;Jose M G Izarzugaza;Rory Johnson;Randi Istrup Juul;Jaegil Kim;Jong K Kim;Jan Komorowski;Andrés Lanzós;Erik Larsson;Donghoon Lee;Shantao Li;Xiaotong Li;Ziao Lin;Eric Minwei Liu;Lucas Lochovsky;Shaoke Lou;Tobias Madsen;Kathleen Marchal;Alexander Martinez-Fundichely;Patrick D McGillivray;William Meyerson;Marta Paczkowska;Keunchil Park;Kiejung Park;Tirso Pons;Sergio Pulido-Tamayo;Iker Reyes-Salazar;Matthew A Reyna;Mark A Rubin;Leonidas Salichos;Chris Sander;Steven E Schumacher;Mark Shackleton;Ciyue Shen;Raunak Shrestha;Shimin Shuai;Tatsuhiko Tsunoda;Husen M Umer;Liis Uusküla-Reimand;Lieven P C Verbeke;Claes Wadelius;Lina Wadi;Jonathan Warrell;Guanming Wu;Jun Yu;Jing Zhang;Xuanping Zhang;Yan Zhang;Zhongming Zhao;Lihua Zou;Michael S Lawrence;Benjamin J Raphael;Peter J Bailey;David Craft;Mary J Goldman;Hiroyuki Aburatani;Hans Binder;Huy Q Dinh;Simon C Heath;Steve Hoffmann;Charles David Imbusch;Helene Kretzmer;Peter W Laird;Jose I Martin-Subero;Genta Nagae;Hui Shen;Qi Wang;Dieter Weichenhan;Wanding Zhou;Benjamin P Berman;Benedikt Brors;Christoph Plass;Kadir C Akdemir;David D L Bowtell;Kathleen H Burns;John Busanovich;Kin Chan;Ana Dueso-Barroso;Paul A Edwards;Dariush Etemadmoghadam;James E Haber;David T W Jones;Young Seok Ju;Marat D Kazanov;Youngil Koh;Kiran Kumar;Eunjung Alice Lee;Jake June-Koo Lee;Andy G Lynch;Geoff Macintyre;Florian Markowetz;Fabio C P Navarro;John V Pearson;Karsten Rippe;Ralph Scully;Izar Villasante;Nicola Waddell;Lixing Yang;Xiaotong Yao;Sung-Soo Yoon;Cheng-Zhong Zhang;Erik N Bergstrom;Arnoud Boot;Kyle Covington;Akihiro Fujimoto;Mi Ni Huang;S M Ashiqul Islam;John R McPherson;Sandro Morganella;Ville Mustonen;Alvin Wei Tian Ng;Stephenie D Prokopec;Ignacio Vázquez-García;Yang Wu;Fouad Yousif;Willie Yu;Steven G Rozen;Vasilisa A Rudneva;Suyash S Shringarpure;Daniel J Turner;Tian Xia;Gurnit Atwal;David K Chang;Susanna L Cooke;Bishoy M Faltas;Syed Haider;Vera B Kaiser;Rosa Karlić;Mamoru Kato;Kirsten Kübler;Adam Margolin;Sancha Martin;Serena Nik-Zainal;Christine P'ng;Colin A Semple;Jaclyn Smith;Ren X Sun;Kevin Thai;Derek W Wright;Ke Yuan;Andrew V Biankin;Levi Garraway;Sean M Grimmond;David J Adams;Pavana Anur;Shaolong Cao;Elizabeth L Christie;Marek Cmero;Yupeng Cun;Kevin J Dawson;Stefan C Dentro;Amit G Deshwar;Nilgun Donmez;Ruben M Drews;Moritz Gerstung;Gavin Ha;Kerstin Haase;Lara Jerman;Yuan Ji;Clemency Jolly;Juhee Lee;Henry Lee-Six;Salem Malikic;Thomas J Mitchell;Quaid D Morris;Layla Oesper;Martin Peifer;Myron Peto;Daniel Rosebrock;Yulia Rubanova;Adriana Salcedo;Subhajit Sengupta;Ruian Shi;Seung Jun Shin;Oliver Spiro;Shankar Vembu;Jeffrey A Wintersinger;Tsun-Po Yang;Kaixian Yu;Hongtu Zhu;Paul T Spellman;John N Weinstein;Yiwen Chen;Masashi Fujita;Leng Han;Takanori Hasegawa;Mitsuhiro Komura;Jun Li;Shinichi Mizuno;Eigo Shimizu;Yumeng Wang;Yanxun Xu;Rui Yamaguchi;Fan Yang;Yang Yang;Christopher J Yoon;Yuan Yuan;Han Liang;Malik Alawi;Ivan Borozan;Daniel S Brewer;Colin S Cooper;Nikita Desai;Adam Grundhoff;Murat Iskar;Xiaoping Su;Marc Zapatka;Peter Lichter;Kathryn Alsop;Timothy J C Bruxner;Angelika N Christ;Stephen M Cordner;Prue A Cowin;Ronny Drapkin;Sian Fereday;Joshy George;Anne Hamilton;Oliver Holmes;Jillian A Hung;Karin S Kassahn;Stephen H Kazakoff;Catherine J Kennedy;Conrad R Leonard;Linda Mileshkin;David K Miller;Gisela Mir Arnau;Chris Mitchell;Felicity Newell;Katia Nones;Ann-Marie Patch;Michael C Quinn;Darrin F Taylor;Heather Thorne;Nadia Traficante;Ravikiran Vedururu;Nick M Waddell;Paul M Waring;Scott Wood;Qinying Xu;Anna deFazio;Matthew J Anderson;Davide Antonello;Andrew P Barbour;Claudio Bassi;Samantha Bersani;Ivana Cataldo;Lorraine A Chantrill;Yoke-Eng Chiew;Angela Chou;Sara Cingarlini;Nicole Cloonan;Vincenzo Corbo;Maria Vittoria Davi;Fraser R Duthie;Anthony J Gill;Janet S Graham;Ivon Harliwong;Nigel B Jamieson;Amber L Johns;James G Kench;Luca Landoni;Rita T Lawlor;Andrea Mafficini;Neil D Merrett;Marco Miotto;Elizabeth A Musgrove;Adnan M Nagrial;Karin A Oien;Marina Pajic;Mark Pinese;Alan J Robertson;Ilse Rooman;Borislav C Rusev;Jaswinder S Samra;Maria Scardoni;Christopher J Scarlett;Aldo Scarpa;Elisabetta Sereni;Katarzyna O Sikora;Michele Simbolo;Morgan L Taschuk;Christopher W Toon;Caterina Vicentini;Jianmin Wu;Nikolajs Zeps;Andreas Behren;Hazel Burke;Jonathan Cebon;Rebecca A Dagg;Ricardo De Paoli-Iseppi;Ken Dutton-Regester;Matthew A Field;Anna Fitzgerald;Peter Hersey;Valerie Jakrot;Peter A Johansson;Hojabr Kakavand;Richard F Kefford;Loretta M S Lau;Georgina V Long;Hilda A Pickett;Antonia L Pritchard;Gulietta M Pupo;Robyn P M Saw;Sarah-Jane Schramm;Catherine A Shang;Ping Shang;Andrew J Spillane;Jonathan R Stretch;Varsha Tembe;John F Thompson;Ricardo E Vilain;James S Wilmott;Jean Y Yang;Nicholas K Hayward;Graham J Mann;Richard A Scolyer;John Bartlett;Prashant Bavi;Dianne E Chadwick;Michelle Chan-Seng-Yue;Sean Cleary;Ashton A Connor;Karolina Czajka;Robert E Denroche;Neesha C Dhani;Jenna Eagles;Steven Gallinger;Robert C Grant;David Hedley;Michael A Hollingsworth;Gun Ho Jang;Jeremy Johns;Sangeetha Kalimuthu;Sheng-Ben Liang;Ilinca Lungu;Xuemei Luo;Faridah Mbabaali;Treasa A McPherson;Jessica K Miller;Malcolm J Moore;Faiyaz Notta;Danielle Pasternack;Gloria M Petersen;Michael H A Roehrl;Michelle Sam;Iris Selander;Stefano Serra;Sagedeh Shahabi;Sarah P Thayer;Lee E Timms;Gavin W Wilson;Julie M Wilson;Bradly G Wouters;John D McPherson;Timothy A Beck;Vinayak Bhandari;Colin C Collins;Neil E Fleshner;Natalie S Fox;Michael Fraser;Lawrence E Heisler;Emilie Lalonde;Julie Livingstone;Alice Meng;Veronica Y Sabelnykova;Yu-Jia Shiah;Theodorus Van der Kwast;Robert G Bristow;Shuai Ding;Daiming Fan;Lin Li;Yongzhan Nie;Xiao Xiao;Rui Xing;Shanlin Yang;Yingyan Yu;Yong Zhou;Rosamonde E Banks;Guillaume Bourque;Paul Brennan;Louis Letourneau;Yasser Riazalhosseini;Ghislaine Scelo;Naveen Vasudev;Juris Viksna;Mark Lathrop;Jörg Tost;Sung-Min Ahn;Samuel Aparicio;Laurent Arnould;M R Aure;Shriram G Bhosle;Ewan Birney;Ake Borg;Sandrine Boyault;Arie B Brinkman;Jane E Brock;Annegien Broeks;Anne-Lise Børresen-Dale;Carlos Caldas;Suet-Feung Chin;Helen Davies;Christine Desmedt;Luc Dirix;Serge Dronov;Anna Ehinger;Jorunn E Eyfjord;Aquila Fatima;John A Foekens;P Andrew Futreal;Øystein Garred;Dilip D Giri;Dominik Glodzik;Dorthe Grabau;Holmfridur Hilmarsdottir;Gerrit K Hooijer;Jocelyne Jacquemier;Se Jin Jang;Jon G Jonasson;Jos Jonkers;Hyung-Yong Kim;Tari A King;Stian Knappskog;Gu Kong;Savitri Krishnamurthy;Sunil R Lakhani;Anita Langerød;Denis Larsimont;Hee Jin Lee;Jeong-Yeon Lee;Ming Ta Michael Lee;Ole Christian Lingjærde;Gaetan MacGrogan;John W M Martens;Sarah O'Meara;Iris Pauporté;Sarah Pinder;Xavier Pivot;Elena Provenzano;Colin A Purdie;Manasa Ramakrishna;Kamna Ramakrishnan;Jorge Reis-Filho;Andrea L Richardson;Markus Ringnér;Javier Bartolomé Rodriguez;F Germán Rodríguez-González;Gilles Romieu;Roberto Salgado;Torill Sauer;Rebecca Shepherd;Anieta M Sieuwerts;Peter T Simpson;Marcel Smid;Christos Sotiriou;Paul N Span;Ólafur Andri Stefánsson;Alasdair Stenhouse;Henk G Stunnenberg;Fred Sweep;Benita Kiat Tee Tan;Gilles Thomas;Alastair M Thompson;Stefania Tommasi;Isabelle Treilleux;Andrew Tutt;Naoto T Ueno;Steven Van Laere;Gert G Van den Eynden;Peter Vermeulen;Alain Viari;Anne Vincent-Salomon;Bernice H Wong;Lucy Yates;Xueqing Zou;Carolien H M van Deurzen;Marc J van de Vijver;Laura Van't Veer;Ole Ammerpohl;Sietse Aukema;Anke K Bergmann;Stephan H Bernhart;Arndt Borkhardt;Christoph Borst;Birgit Burkhardt;Alexander Claviez;Maria Elisabeth Goebler;Andrea Haake;Siegfried Haas;Martin Hansmann;Jessica I Hoell;Michael Hummel;Dennis Karsch;Wolfram Klapper;Michael Kneba;Markus Kreuz;Dieter Kube;Ralf Küppers;Dido Lenze;Markus Loeffler;Cristina López;Luisa Mantovani-Löffler;Peter Möller;German Ott;Bernhard Radlwimmer;Julia Richter;Marius Rohde;Philip C Rosenstiel;Andreas Rosenwald;Markus B Schilhabel;Stefan Schreiber;Peter F Stadler;Peter Staib;Stephan Stilgenbauer;Stephanie Sungalee;Monika Szczepanowski;Umut H Toprak;Lorenz H P Trümper;Rabea Wagener;Thorsten Zenz;Volker Hovestadt;Christof von Kalle;Marcel Kool;Andrey Korshunov;Pablo Landgraf;Hans Lehrach;Paul A Northcott;Stefan M Pfister;Guido Reifenberger;Hans-Jörg Warnatz;Stephan Wolf;Marie-Laure Yaspo;Yassen Assenov;Clarissa Gerhauser;Sarah Minner;Thorsten Schlomm;Ronald Simon;Guido Sauter;Holger Sültmann;Nidhan K Biswas;Arindam Maitra;Partha P Majumder;Rajiv Sarin;Stefano Barbi;Giada Bonizzato;Cinzia Cantù;Angelo P Dei Tos;Matteo Fassan;Sonia Grimaldi;Claudio Luchini;Giuseppe Malleo;Giovanni Marchegiani;Michele Milella;Salvatore Paiella;Antonio Pea;Paolo Pederzoli;Andrea Ruzzenente;Roberto Salvia;Nicola Sperandio;Yasuhito Arai;Natsuko Hama;Nobuyoshi Hiraoka;Fumie Hosoda;Hiromi Nakamura;Hidenori Ojima;Takuji Okusaka;Yasushi Totoki;Tomoko Urushidate;Masashi Fukayama;Shumpei Ishikawa;Hitoshi Katai;Hiroto Katoh;Daisuke Komura;Hirofumi Rokutan;Mihoko Saito-Adachi;Akihiro Suzuki;Hirokazu Taniguchi;Kenji Tatsuno;Tetsuo Ushiku;Shinichi Yachida;Shogo Yamamoto;Hiroshi Aikata;Koji Arihiro;Shun-Ichi Ariizumi;Kazuaki Chayama;Mayuko Furuta;Kunihito Gotoh;Shinya Hayami;Satoshi Hirano;Yoshiiku Kawakami;Kazuhiro Maejima;Toru Nakamura;Kaoru Nakano;Hideki Ohdan;Aya Sasaki-Oku;Hiroko Tanaka;Masaki Ueno;Masakazu Yamamoto;Hiroki Yamaue;Su Pin Choo;Ioana Cutcutache;Narong Khuntikeo;Choon Kiat Ong;Chawalit Pairojkul;Irinel Popescu;Keun Soo Ahn;Marta Aymerich;Armando Lopez-Guillermo;Carlos López-Otín;Xose S Puente;Elias Campo;Fernanda Amary;Daniel Baumhoer;Sam Behjati;Bodil Bjerkehagen;P A Futreal;Ola Myklebost;Nischalan Pillay;Patrick Tarpey;Roberto Tirabosco;Olga Zaikova;Adrienne M Flanagan;Jacqueline Boultwood;David T Bowen;Mario Cazzola;Anthony R Green;Eva Hellstrom-Lindberg;Luca Malcovati;Jyoti Nangalia;Elli Papaemmanuil;Paresh Vyas;Yeng Ang;Hugh Barr;Duncan Beardsmore;Matthew Eldridge;James Gossage;Nicola Grehan;George B Hanna;Stephen J Hayes;Ted R Hupp;David Khoo;Jesper Lagergren;Laurence B Lovat;Shona MacRae;Maria O'Donovan;J Robert O'Neill;Simon L Parsons;Shaun R Preston;Sonia Puig;Tom Roques;Grant Sanders;Sharmila Sothi;Simon Tavaré;Olga Tucker;Richard Turkington;Timothy J Underwood;Ian Welch;Rebecca C Fitzgerald;Daniel M Berney;Johann S De Bono;Declan Cahill;Niedzica Camacho;Nening M Dennis;Tim Dudderidge;Sandra E Edwards;Cyril Fisher;Christopher S Foster;Mohammed Ghori;Pelvender Gill;Vincent J Gnanapragasam;Gunes Gundem;Freddie C Hamdy;Steve Hawkins;Steven Hazell;William Howat;William B Isaacs;Katalin Karaszi;Jonathan D Kay;Vincent Khoo;Zsofia Kote-Jarai;Barbara Kremeyer;Pardeep Kumar;Adam Lambert;Daniel A Leongamornlert;Naomi Livni;Yong-Jie Lu;Hayley J Luxton;Luke Marsden;Charlie E Massie;Lucy Matthews;Erik Mayer;Ultan McDermott;Sue Merson;David E Neal;Anthony Ng;David Nicol;Christopher Ogden;Edward W Rowe;Nimish C Shah;Sarah Thomas;Alan Thompson;Clare Verrill;Tapio Visakorpi;Anne Y Warren;Hayley C Whitaker;Hongwei Zhang;Nicholas van As;Rosalind A Eeles;Adam Abeshouse;Nishant Agrawal;Rehan Akbani;Hikmat Al-Ahmadie;Monique Albert;Kenneth Aldape;Adrian Ally;Elizabeth L Appelbaum;Joshua Armenia;Sylvia Asa;J Todd Auman;Miruna Balasundaram;Saianand Balu;Jill Barnholtz-Sloan;Oliver F Bathe;Stephen B Baylin;Christopher Benz;Andrew Berchuck;Mario Berrios;Darell Bigner;Michael Birrer;Tom Bodenheimer;Lori Boice;Moiz S Bootwalla;Marcus Bosenberg;Reanne Bowlby;Jeffrey Boyd;Russell R Broaddus;Malcolm Brock;Denise Brooks;Susan Bullman;Samantha J Caesar-Johnson;Thomas E Carey;Rebecca Carlsen;Robert Cerfolio;Vishal S Chandan;Hsiao-Wei Chen;Andrew D Cherniack;Jeremy Chien;Juok Cho;Eric Chuah;Carrie Cibulskis;Leslie Cope;Matthew G Cordes;Erin Curley;Bogdan Czerniak;Ludmila Danilova;Ian J Davis;Timothy Defreitas;John A Demchok;Noreen Dhalla;Rajiv Dhir;HarshaVardhan Doddapaneni;Adel El-Naggar;Ina Felau;Martin L Ferguson;Gaetano Finocchiaro;Kwun M Fong;Scott Frazer;William Friedman;Catrina C Fronick;Lucinda A Fulton;Stacey B Gabriel;Jianjiong Gao;Nils Gehlenborg;Jeffrey E Gershenwald;Ronald Ghossein;Nasra H Giama;Richard A Gibbs;Carmen Gomez;Ramaswamy Govindan;D Neil Hayes;Apurva M Hegde;David I Heiman;Zachary Heins;Austin J Hepperla;Andrea Holbrook;Robert A Holt;Alan P Hoyle;Ralph H Hruban;Jianhong Hu;Mei Huang;David Huntsman;Jason Huse;Christine A Iacobuzio-Donahue;Michael Ittmann;Joy C Jayaseelan;Stuart R Jefferys;Corbin D Jones;Steven J M Jones;Hartmut Juhl;Koo Jeong Kang;Beth Karlan;Katayoon Kasaian;Electron Kebebew;Hark Kyun Kim;Viktoriya Korchina;Ritika Kundra;Phillip H Lai;Eric Lander;Xuan Le;Darlene Lee;Douglas A Levine;Lora Lewis;Tim Ley;Haiyan Irene Li;Pei Lin;W M Linehan;Fei Fei Liu;Yiling Lu;Lisa Lype;Yussanne Ma;Dennis T Maglinte;Elaine R Mardis;Jeffrey Marks;Marco A Marra;Thomas J Matthew;Michael Mayo;Karen McCune;Samuel R Meier;Shaowu Meng;Piotr A Mieczkowski;Tom Mikkelsen;Christopher A Miller;Gordon B Mills;Richard A Moore;Carl Morrison;Lisle E Mose;Catherine D Moser;Andrew J Mungall;Karen Mungall;David Mutch;Donna M Muzny;Jerome Myers;Yulia Newton;Michael S Noble;Peter O'Donnell;Brian Patrick O'Neill;Angelica Ochoa;Joong-Won Park;Joel S Parker;Harvey Pass;Alessandro Pastore;Nathan A Pennell;Charles M Perou;Nicholas Petrelli;Olga Potapova;Janet S Rader;Suresh Ramalingam;W Kimryn Rathmell;Victor Reuter;Sheila M Reynolds;Matthew Ringel;Jeffrey Roach;Lewis R Roberts;A Gordon Robertson;Sara Sadeghi;Charles Saller;Francisco Sanchez-Vega;Dirk Schadendorf;Jacqueline E Schein;Heather K Schmidt;Nikolaus Schultz;Raja Seethala;Yasin Senbabaoglu;Troy Shelton;Yan Shi;Juliann Shih;Ilya Shmulevich;Craig Shriver;Sabina Signoretti;Janae V Simons;Samuel Singer;Payal Sipahimalani;Tara J Skelly;Karen Smith-McCune;Nicholas D Socci;Matthew G Soloway;Anil K Sood;Angela Tam;Donghui Tan;Roy Tarnuzzer;Nina Thiessen;R Houston Thompson;Leigh B Thorne;Ming Tsao;Christopher Umbricht;David J Van Den Berg;Erwin G Van Meir;Umadevi Veluvolu;Douglas Voet;Linghua Wang;Paul Weinberger;Daniel J Weisenberger;Dennis Wigle;Matthew D Wilkerson;Richard K Wilson;Boris Winterhoff;Maciej Wiznerowicz;Tina Wong;Winghing Wong;Liu Xi;Christina Yau;Hailei Zhang;Hongxin Zhang;Jiashan Zhang
2020-01-01
Abstract
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). 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(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1368734
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Il report seguente simula gli indicatori relativi alla propria produzione scientifica in relazione alle soglie ASN 2023-2025 del proprio SC/SSD. Si ricorda che il superamento dei valori soglia (almeno 2 su 3) è requisito necessario ma non sufficiente al conseguimento dell'abilitazione. La simulazione si basa sui dati IRIS e sugli indicatori bibliometrici alla data indicata e non tiene conto di eventuali periodi di congedo obbligatorio, che in sede di domanda ASN danno diritto a incrementi percentuali dei valori. La simulazione può differire dall'esito di un’eventuale domanda ASN sia per errori di catalogazione e/o dati mancanti in IRIS, sia per la variabilità dei dati bibliometrici nel tempo. Si consideri che Anvur calcola i valori degli indicatori all'ultima data utile per la presentazione delle domande.
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