22 research outputs found
Multidrug-resistant Salmonella Typhimurium in Four Animal Facilities
- Author
- Angulo
- Ann Marie B. Thiessen
- Barker
- Barza
- Bohnhoff
- Ca
- Catherine Jo Gilbertson
- Centers for Disease Control and Prevention
- Centers for Disease Control and Prevention
- Cherry
- Clark
- Dale D. Hancock
- Daniel H. Rice
- Evans
- Ewart
- Frederick J. Angulo
- Hartmann
- Holmberg
- Jeff B. Bender
- Jennifer G. Wright
- John H. Grendon
- Josephson
- Ketaren
- Kirk E. Smith
- Leslie A. Tengelsen
- Low
- Lyons
- Mead
- Pitout
- Rice
- Rodney K. Frank
- Sato
- Sirinavin
- Sumathi Sivapalasingam
- Tauni
- Thomas E. Besser
- Timony
- Timothy J. Barrett
- Wall
- White
- Publication venue
- Centers for Disease Control and Prevention
- Publication date
- Field of study
Within each of 4 outbreaks of S. Typhimurium among humans and animals at companion animal care facilities, isolates were identical or nearly identical
Integrated genomic characterization of pancreatic ductal adenocarcinoma
- Author
- Adsay Volkan
- Aguirre Andrew J.
- Akbani Rehan
- Albert Monique
- Ally Adrian
- Amundadottir Laufey T.
- Auman J. Todd
- Bahary Nathan
- Bailey Peter
- Balasundaram Miruna
- Balu Saianand
- Bardeesy Nabeel
- Bartlett John
- Bathe Oliver
- Baylin Stephen B.
- Becker Karl-Friedrich
- Behera Madhusmita
- Bennett Joseph
- Bergelson Louis
- Beroukhim Rameen
- Berrios Mario
- Biankin Andrew
- Birol Inanc
- Bodenheimer Tom
- Boice Lori
- Bootwalla Moiz S.
- Bowen Jay
- Bowlby Reanne
- Breggia Anne
- Brooks Denise
- Burch Patrick
- Burks Eric
- Cancer Genome Initiative (APGI Australian Pancreatic
- Carlotti Junior Carlos Gilberto
- Carlsen Rebecca
- Chabot John
- Chaffee Kari
- Chang David
- Cherniack Andrew D.
- Chin Lynda
- Chin Lynda
- Cho Juok
- Chu Andy
- Chuah Eric
- Chudamani Sudha
- Cibulskis Carrie
- Clarke Amanda
- Collisson Eric
- Crain Daniel
- Curley Erin
- Defreitas Timothy
- Demchok John A.
- Dhalla Noreen
- Dhir Rajiv
- Dubina Michael
- Eschbacher Jennifer
- Fei Suzanne S.
- Felau Ina
- Ferguson Martin L.
- Frazer Scott
- Frick Jessica
- Furth Emma
- Gabriel Stacey B.
- Gardner Johanna
- Gastier-Foster Julie M.
- Gehlenborg Nils
- Gerken Mark
- Getz Gad
- Gibb Ewan A.
- Gill Anthony
- Gingras Marie-Claude
- Goldenberg Anna
- Grimmond Sean
- Gupta Manaswi
- Han Sung-Sik
- Hayes D. Neil
- Heiman David I.
- Hess Julian
- Hibshoosh Hanina
- Hinoue Toshinori
- Hoadley Katherine A.
- Holbrook Andrea
- Holt Robert A.
- Howard Zaren
- Hoyle Alan P.
- Hruban Ralph H.
- Huang Mei
- Huelsenbeck-Dill Lori
- Hutter Carolyn M.
- Hwang Rosa F.
- Janssen Klaus-Peter
- Jefferys Stuart R.
- Jenkins Roger
- Jennifer Smith
- Johns Amber
- Johns Amber
- Jones Corbin D.
- Jones Steven J.M.
- Judy Miller
- Kamburov Atanas
- Karpov Alexey
- Kasaian Katayoon
- Kemp Rafael
- Kench James
- Kim Hark
- Kim Jaegil
- Kim Jaegil
- Kim Paula
- Kim Seong Hoon
- Kim Yong Hoon
- Klimstra David
- Korkut Anil
- Kucherlapati Melanie
- Kucherlapati Raju
- Kwon Sun Young
- Lai Phillip H.
- Laird Peter W.
- Lander Eric
- Lau Kevin
- Lawrence Michael S.
- Lee Darlene
- Leiserson Mark D.M.
- Leraas Kristen M.
- Leshchiner Ignaty
- Lichtenberg Tara M.
- Lin Pei
- Ling Shiyun
- Liu Jia
- Liu Yuexin
- Livitz Dimitri
- Loher Phillipe
- Lolla Laxmi
- Londin Eric R.
- Lu Yiling
- Lyadov Vladimir
- Ma Yussanne
- Maglinte Dennis T.
- Mahurkar Swapna
- Maithel Shishir
- Mallery David
- Manikhas Georgy
- Marra Marco A.
- Mayo Michael
- McWilliams Robert
- Meier Sam
- Meng Shaowu
- Meyerson Matthew
- Mezlini Aziz M.
- Mieczkowski Piotr A.
- Mills Shaw Kenna R.
- Mills Gordon B.
- Moffitt Richard A.
- Montgomery Eric
- Moore Richard A.
- Morris Scott
- Mose Lisle E.
- Mungall Andrew J.
- Mungall Karen L.
- Murray Bradley A.
- Naresh Rashi
- Noble Michael S.
- Noushmehr Houtan
- Oberg Ann
- Osunkoya Adeboye
- Owonikoko Taofeek
- Paklina Oxana
- Pantazi Angeliki
- Park Peter
- Park Sang-Jae
- Parker Joel S.
- Paul Drwiega
- Paulauskis Joseph
- Penny Robert
- Perou Amy H.
- Perou Charles M.
- Petersen Gloria
- Pihl Todd
- Postier Russell
- Potapova Olga
- Pretti da Cunha Tirapelli Daniela
- Radenbaugh Amie
- Ramalingam Suresh
- Ramirez Nilsa C.
- Raphael Benjamin J.
- Rathmell W. Kimryn
- Reardon Brendan
- Renkel Jeremy
- Rieger-Christ Kimberly
- Rigoutsos Isidore
- Roach Jeffrey
- Robertson A. Gordon
- Roggin Kevin
- Rosenberg Mara
- Sadeghi Sara
- Saksena Gordon
- Saksena Gordon
- Saller Charles
- Sander Chris
- Schein Jacqueline E.
- Schumacher Steven E.
- Sebastião dos Santos Jose
- Sekhon Harman
- Senbabaoglu Yasin
- Sepulveda Antonia
- Setdikova Galiya
- Shabunin Alexey
- Shelton Candace
- Shelton Troy
- Shen Hui
- Sherman Mark
- Sheth Margi
- Shi Yan
- Shih Juliann
- Shroff Rachna T.
- Sica Gabriel
- Sicotte Hugues
- Simons Janae V.
- Singhi Aatur D.
- Sipahimalani Payal
- Skelly Tara
- Slotta-Huspenina Julia
- Smyrk Thomas
- Sofia Heidi J.
- Soloway Matthew G.
- Spellman Paul T.
- Stephen Yeager
- Stewart Chip
- Su Tao
- Sullivan Travis
- Sun Qiang
- Swanson Pat
- Tam Angela
- Tan Donghui
- Tarnuzzer Roy
- Tarvin Katherine
- Tavobilov Michael
- Telonis Aristeidis G.
- Tempero Margaret
- Tepper Joel
- Thiessen Nina
- Thorne Leigh B.
- Tiao Grace
- Triche Timothy J.
- Tse Kane
- Urbanski Stefan
- Van Allen Eliezer
- Van Den Berg David J.
- Veluvolu Umadevi
- Voet Doug
- Voronina Olga
- Wan Yunhu
- Wang Timothy
- Wang Zhining
- Weinstein John N.
- Weisenberger Daniel J.
- Wheeler David A.
- Wilkerson Matthew D.
- Wise Lisa
- Wong Tina
- Wu Ye
- Xi Liu
- Yang Liming
- Yeh Jen Jen
- Yena Peggy
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Jiashan (Julia)
- Zhang Lizhi
- Zhang Wei
- Zmuda Erik
- Zuna Rosemary
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/08/2017
- Field of study
We performed integrated genomic, transcriptomic, and proteomic profiling of 150 pancreatic ductal adenocarcinoma (PDAC) specimens, including samples with characteristic low neoplastic cellularity. Deep whole-exome sequencing revealed recurrent somatic mutations in KRAS, TP53, CDKN2A, SMAD4, RNF43, ARID1A, TGFβR2, GNAS, RREB1, and PBRM1. KRAS wild-type tumors harbored alterations in other oncogenic drivers, including GNAS, BRAF, CTNNB1, and additional RAS pathway genes. A subset of tumors harbored multiple KRAS mutations, with some showing evidence of biallelic mutations. Protein profiling identified a favorable prognosis subset with low epithelial-mesenchymal transition and high MTOR pathway scores. Associations of non-coding RNAs with tumor-specific mRNA subtypes were also identified. Our integrated multi-platform analysis reveals a complex molecular landscape of PDAC and provides a roadmap for precision medicine
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
- Anthony DiBiase
- Anthony J Gill
- Anthony Ng
- Anthony R Green
- Antonia L Pritchard
- Antonio Pea
- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
- Arindam Maitra
- Armando Lopez-Guillermo
- Arndt Borkhardt
- Arnoud Boot
- Asger Hobolth
- Ashley Williams
- Ashton A Connor
- Atul J Butte
- Aurélien Chateigner
- Austin J Hepperla
- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Bailey Matthew H
- Barbara Hutter
- Barbara Hutter
- Barbara Kremeyer
- Bartha M Knoppers
- Beifang Niu
- Beifang Niu
- Beifang Niu
- Benedikt Brors
- Benita Kiat Tee Tan
- Benjamin J Raphael
- Benjamin P Berman
- Benjamin Raeder
- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
- Bin Tean Teh
- Bin Zhu
- Birgit Burkhardt
- Bishoy M Faltas
- Bodil Bjerkehagen
- Bogdan Czerniak
- Boris Winterhoff
- Borislav C Rusev
- Bradly G Wouters
- Brandi N Davis-Dusenbery
- Brian Craft
- Brian D O'Connor
- Brian Patrick O'Neill
- Brice Aminou
- Calvin Wing Yiu Chan
- Cameron M Soulette
- Carl Herrmann
- Carl Morrison
- Carlo Gambacorti-Passerini
- Carlos Caldas
- Carlos D Bustamante
- Carlos López-Otín
- Carlota Rubio-Perez
- Carmen Gomez
- Carolien H M van Deurzen
- Carolyn M Hutter
- Carolyn M Hutter
- Carrie Cibulskis
- Caterina Vicentini
- Catherine A Shang
- Catherine D Moser
- Catherine J Kennedy
- Catrina C Fronick
- Chad J Creighton
- Chandra Sekhar Pedamallu
- Chang Li
- Charles David Imbusch
- Charles M Perou
- Charles Saller
- Charles Short
- Charlie E Massie
- Chawalit Pairojkul
- Chen Hong
- Chen Ye
- Cheng-Zhong Zhang
- Chin-Lee Wu
- Chip Stewart
- Chip Stewart
- Chip Stewart
- Choon Kiat Ong
- Chris Lawerenz
- Chris Mitchell
- Chris Sander
- Christian von Mering
- Christiane Buchholz
- Christina K Yung
- Christina K Yung
- Christina Yau
- Christine A Iacobuzio-Donahue
- Christine Chomienne
- Christine Desmedt
- Christine P'ng
- Christof von Kalle
- Christoph Borst
- Christoph Plass
- Christopher A Miller
- Christopher Benz
- Christopher J Scarlett
- Christopher J Yoon
- Christopher K Wong
- Christopher M Lalansingh
- Christopher M Lalansingh
- Christopher Ogden
- Christopher S Foster
- Christopher Umbricht
- Christopher W Toon
- Christos Sotiriou
- Cindy Bell
- Cinzia Cantù
- Ciyue Shen
- Claes Wadelius
- Clare Verrill
- Clarissa Gerhauser
- Claudia Calabrese
- Claudio Bassi
- Claudio Luchini
- Claudiu Farcas
- Clemency Jolly
- Colin A Purdie
- Colin A Semple
- Colin C Collins
- Colin S Cooper
- Conrad R Leonard
- Constance H Li
- Corbin D Jones
- Craig Shriver
- Cristina López
- Cyriac Kandoth
- Cyril Fisher
- D Neil Hayes
- Dai-Ying Wu
- Daiming Fan
- Daisuke Komura
- Dale W Garsed
- Daniel A Leongamornlert
- Daniel Baumhoer
- Daniel Hübschmann
- Daniel J Turner
- Daniel J Weisenberger
- Daniel M Berney
- Daniel Rosebrock
- Daniel S Brewer
- Daniela S Gerhard
- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
- Darrin F Taylor
- Dave Larson
- David A Wheeler
- David A Wheeler
- David C Wedge
- David Craft
- David D L Bowtell
- David E Neal
- David Haan
- David Haussler
- David Haussler
- David Hedley
- David Huntsman
- David I Heiman
- David J Adams
- David J Van Den Berg
- David K Chang
- David K Miller
- David Khoo
- David Mutch
- David N Louis
- David Nicol
- David Ocana
- David R Jones
- David R Jones
- David Scott
- David T Bowen
- David T W Jones
- David Tamborero
- David Torrents
- David Torrents
- David Townend
- David Vicente
- Davide Antonello
- Declan Cahill
- Denis Larsimont
- Denis Yuen
- Denise Brooks
- Deniz Demircioğlu
- Dennis C Sgroi
- Dennis Karsch
- Dennis T Maglinte
- Dennis Wigle
- Derek W Wright
- Dianne E Chadwick
- Dido Lenze
- Dieter Kube
- Dieter Weichenhan
- Dilip D Giri
- Dimitri Livitz
- Dimitri Livitz
- Dimple Chakravarty
- Ding
- Dirk Schadendorf
- Dmitry A Gordenin
- Dominik Glodzik
- Don Chalmers
- Dong Guanlan
- Dongbing Liu
- Donghoon Lee
- Donghui Tan
- Donna M Muzny
- Dorthe Grabau
- Douglas A Levine
- Douglas F Easton
- Douglas Voet
- Duncan Beardsmore
- Dursi Lewis Jonathan
- Edward W Rowe
- Eigo Shimizu
- Ekta Khurana
- Elaine R Mardis
- Electron Kebebew
- Elena Piñeiro-Yáñez
- Elena Provenzano
- Elias Campo
- Elisabet Barrera
- Elisabetta Sereni
- Elizabeth A Musgrove
- Elizabeth L Appelbaum
- Elizabeth L Christie
- Elli Papaemmanuil
- Ellrott Kyle
- Emilie Lalonde
- Eoghan Harrington
- Eric Chuah
- Eric Green
- Eric Lander
- Eric Minwei Liu
- Eric Z Ma
- Eric Z Ma
- Erik Garrison
- Erik Larsson
- Erik Mayer
- Erik N Bergstrom
- Erin Curley
- Ermin Hodzic
- Erwin G Van Meir
- Esa Pitkänen
- Esther Rheinbay
- Esther Rheinbay
- Eun Pyo Hong
- Eunjung Alice Lee
- Eva G Alvarez
- Eva Hellstrom-Lindberg
- Ewan Birney
- F Germán Rodríguez-González
- Fabien C Lamaze
- Fabien Calvo
- Fabio C P Navarro
- Faiyaz Notta
- Fan Yang
- Fan Zhang
- Faraz Hach
- Faraz Hach
- Faridah Mbabaali
- Fatima Al-Shahrour
- Federico Abascal
- Fei-Fei Liu
- Felicity Newell
- Fenglin Liu
- Fernanda Amary
- Ferran Muiños
- Florian Markowetz
- Fouad Yousif
- Francesc Muyas
- Francesco Favero
- Francisco M De La Vega
- Francisco Sanchez-Vega
- Fraser R Duthie
- Fred Sweep
- Freddie C Hamdy
- Fruzsina Molnár-Gábor
- Fumie Hosoda
- G Petur Nielsen
- G Steven Bova
- Gad Getz
- Gad Getz
- Gad Getz
- Gaetan MacGrogan
- Gaetano Finocchiaro
- Gary D Bader
- Gavin Ha
- Gavin W Wilson
- Genta Nagae
- Geoff Macintyre
- George B Hanna
- George L Mihaiescu
- Georgia Escaramis
- Georgina V Long
- Gerd Nettekoven
- German M Demidov
- German Ott
- Gerrit K Hooijer
- Gerstein Mark B
- Gert G Van den Eynden
- Getz Gad
- Ghislaine Scelo
- Giada Bonizzato
- Giampaolo Tortora
- Gilles Romieu
- Gilles Thomas
- Giovanni Marchegiani
- Gisela Mir Arnau
- Giuseppe Malleo
- Gloria M Petersen
- Gordon B Mills
- Gordon B Mills
- Gordon Saksena
- Gordon Saksena
- Gordon Saksena
- Grace Tiao
- Grace Tiao
- Graham J Mann
- Grant Sanders
- Gu Kong
- Guanming Wu
- Guido Reifenberger
- Guido Sauter
- Guillaume Bourque
- Gulietta M Pupo
- Gun Ho Jang
- Gunes Gundem
- Gunnar Rätsch
- Gurnit Atwal
- Hailei Zhang
- Haiyan Irene Li
- Han Liang
- Hana Susak
- Hans Binder
- Hans Lehrach
- Hans-Jörg Warnatz
- Hardeep K Nahal-Bose
- Hark Kyun Kim
- HarshaVardhan Doddapaneni
- Hartmut Juhl
- Harvey Pass
- Hayley C Whitaker
- Hayley J Luxton
- Hazel Burke
- Heather K Schmidt
- Heather Thorne
- Hee Jin Lee
- Heidi J Sofia
- Heidi Sofia
- Helen Davies
- Helena Kilpinen
- Helene Kretzmer
- Heng Xiong
- Henk G Stunnenberg
- Henrik Hornshøj
- Henry Lee-Six
- Hideki Ohdan
- Hidenori Ojima
- Hidewaki Nakagawa
- Hikmat Al-Ahmadie
- Hilda A Pickett
- Hirofumi Rokutan
- Hirokazu Taniguchi
- Hiroki Yamaue
- Hiroko Tanaka
- Hiromi Nakamura
- Hiroshi Aikata
- Hiroto Katoh
- Hiroyuki Aburatani
- Hitoshi Katai
- Hitoshi Nakagama
- Hojabr Kakavand
- Holger Sültmann
- Holmfridur Hilmarsdottir
- Hong Su
- Hong Xue
- Hong Xue
- Hongtu Zhu
- Hongwei Zhang
- Hongxin Zhang
- Hsiao-Wei Chen
- Huanming Yang
- Hugh Barr
- Hui Shen
- Husen M Umer
- Huy Q Dinh
- Hyung-Lae Kim
- Hyung-Lae Kim
- Hyung-Yong Kim
- Hyunghwan Kim
- Ian J Davis
- Ian Welch
- Ignacio Vázquez-García
- Ignaty Leshchiner
- Ignaty Leshchiner
- Ignaty Leshchiner
- Iker Reyes-Salazar
- Ilinca Lungu
- Ilse Rooman
- Ilya Shmulevich
- Iman Sarrafi
- Iman Sarrafi
- Ina Felau
- Ioana Cutcutache
- Irene Papatheodorou
- Irinel Popescu
- Iris Pauporté
- Iris Selander
- Isabelle Treilleux
- Isidro Cortés-Ciriano
- Ivan Borozan
- Ivana Cataldo
- Ivica Letunic
- Ivica Letunic
- Ivo Buchhalter
- Ivo Buchhalter
- Ivo G Gut
- Ivo G Gut
- Ivon Harliwong
- Izar Villasante
- Iñigo Martincorena
- J Lynn Fink
- J Robert O'Neill
- J Todd Auman
- Jaclyn Smith
- Jacqueline Boultwood
- Jacqueline E Schein
- Jaegil Kim
- Jake June-Koo Lee
- Jakob Skou Pedersen
- Jakob Skou Pedersen
- James E Haber
- James G Kench
- James Gossage
- James S Wilmott
- Jan Komorowski
- Jan O Korbel
- Janae V Simons
- Jane E Brock
- Janet S Graham
- Janet S Rader
- Jared T Simpson
- Jared T Simpson
- Jason Huse
- Jaswinder S Samra
- Javier Bartolome
- Javier Bartolomé Rodriguez
- Javier Temes
- Jean C Zenklusen
- Jean Y Yang
- Jean-Rémi Trotta
- Jeffrey A Wintersinger
- Jeffrey Boyd
- Jeffrey E Gershenwald
- Jeffrey Marks
- Jeffrey Roach
- Jenna Eagles
- Jennifer L Jennings
- Jeong-Yeon Lee
- Jeremiah A Wala
- Jeremiah A Wala
- Jeremy Chien
- Jeremy Johns
- Jerome Myers
- Jesper Lagergren
- Jessica I Hoell
- Jessica K Miller
- Ji Wan Park
- Jia Liu
- Jian Wang
- Jianhong Hu
- Jianjiong Gao
- Jianmin Wu
- Jiashan Zhang
- Jiayin Wang
- Jiayin Wang
- Jieming Chen
- Jihoon Kim
- Jill Barnholtz-Sloan
- Jillian A Hung
- Jing Zhang
- Jingchun Zhu
- Joachim Weischenfeldt
- Joachim Weischenfeldt
- Joan Frigola
- Joana Carlevaro-Fita
- Jocelyne Jacquemier
- Joel S Parker
- Johan Staaf
- Johann S De Bono
- Johanna Bertl
- Johannes Werner
- Johannes Werner
- John A Demchok
- John A Foekens
- John Bartlett
- John Busanovich
- John D McPherson
- John F Thompson
- John Letaw
- John N Weinstein
- John N Weinstein
- John R McPherson
- John V Pearson
- John W M Martens
- Jon G Jonasson
- Jon W Teague
- Jon W Teague
- Jonas Demeulemeester
- Jonathan Barenboim
- Jonathan Cebon
- Jonathan D Kay
- Jonathan Göke
- Jonathan Hinton
- Jonathan Hinton
- Jonathan Nicholson
- Jonathan R Stretch
- Jonathan Spring
- Jonathan Warrell
- Jong K Kim
- Jongsun Jung
- Jongsun Jung
- Jongwhi H Hong
- Joong-Won Park
- Jordi Deu-Pons
- Jorge Reis-Filho
- Jorge Zamora
- Jorunn E Eyfjord
- Jos Jonkers
- Jose I Martin-Subero
- Jose M C Tubio
- Jose M G Izarzugaza
- Josep L L Gelpi
- Josep L L Gelpi
- Joshua Armenia
- Joshua M Stuart
- Joshua M Stuart
- Joshy George
- José María Heredia-Genestar
- Joy C Jayaseelan
- Juergen Eils
- Juhee Lee
- Jules N A Kerssemakers
- Julia Markowski
- Julia Richter
- Julian M Hess
- Julian M Hess
- Julian M Hess
- Juliann Shih
- Julie Livingstone
- Julie M Wilson
- Jun Li
- Jun Yu
- Jung Kyoon Choi
- Junjun Zhang
- Junjun Zhang
- Juok Cho
- Juris Viksna
- Justin P Whalley
- Jyoti Nangalia
- Jörg Tost
- Jüri Reimand
- K Vijay Raghavan
- Kadir C Akdemir
- Kai Ye
- Kai Ye
- Kai Ye
- Kaixian Yu
- Kami Chiotti
- Kamna Ramakrishnan
- Kaoru Nakano
- Karen McCune
- Karen Mungall
- Karen Smith-McCune
- Karin A Oien
- Karin S Kassahn
- Karine Jegalian
- Karolina Czajka
- Karsten Rippe
- Katalin Karaszi
- Katarzyna O Sikora
- Katayoon Kasaian
- Katayoon Kasaian
- Katherine A Hoadley
- Kathleen H Burns
- Kathleen Marchal
- Kathryn Alsop
- Katia Nones
- Kazuaki Chayama
- Kazuhiro Maejima
- Kazuhiro Ohi
- Ke Yuan
- Keiran M Raine
- Keiran M Raine
- Keith A Boroevich
- Kelso Sean
- Ken Chen
- Ken Chen
- Ken Dutton-Regester
- Kenji Tatsuno
- Kenneth Aldape
- Keren Isaev
- Kerstin Haase
- Keun Soo Ahn
- Keunchil Park
- Kevin J Dawson
- Kevin Thai
- Kiejung Park
- Kin Chan
- Kiran Kumar
- Kirsten Kübler
- Kiyo Shimizu
- Kjong-Van Lehmann
- Klev Diamanti
- Koji Arihiro
- Koo Jeong Kang
- Kortine Kleinheinz
- Kortine Kleinheinz
- Kristian Cibulskis
- Kuan-Lin Huang
- Kui Wu
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- Ping Shang
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- Sheila M Reynolds
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- Shuto Hayashi
- Sian Fereday
- Siegfried Haas
- Sietse Aukema
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- Solomon I Shorser
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- Stefan G Stark
- Stefan M Pfister
- Stefan Schreiber
- Stefania Tommasi
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- Stefano Serra
- Stephan H Bernhart
- Stephan Ossowski
- Stephan Ossowski
- Stephan Stilgenbauer
- Stephan Wolf
- Stephanie Sungalee
- Stephen B Baylin
- Stephen H Kazakoff
- Stephen J Chanock
- Stephen J Hayes
- Stephen M Cordner
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- Steve Hoffmann
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- Steven E Schumacher
- Steven Foltz
- Steven G Rozen
- Steven Gallinger
- Steven Hazell
- Steven J M Jones
- Steven J Newhouse
- Steven Van Laere
- Stian Knappskog
- Stuart Edmonds
- Stuart R Jefferys
- Su Pin Choo
- Subhajit Sengupta
- Sue Merson
- Suet-Feung Chin
- Sultan T Al-Sedairy
- Sung-Min Ahn
- Sung-Soo Yoon
- Sunghoon Cho
- Sunil R Lakhani
- Suresh Ramalingam
- Susan Bullman
- Susanna L Cooke
- Sushant Kumar
- Sushant Kumar
- Suyash S Shringarpure
- Syed Haider
- Sylvia Asa
- Søren Brunak
- Takafumi N Yamaguchi
- Takafumi N Yamaguchi
- Takanori Hasegawa
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- Takashi Yugawa
- Takuji Okusaka
- Tal Shmaya
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- Taobo Hu
- Tapio Visakorpi
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- Tatsuhiro Shibata
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- Tom Mikkelsen
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- Tomoko Urushidate
- Torill Sauer
- Toru Nakamura
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- Ultan McDermott
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- Varsha Tembe
- Vasilisa A Rudneva
- Venkata D Yellapantula
- Venkata D Yellapantula
- Vera B Kaiser
- Veronica Y Sabelnykova
- Victor Reuter
- Vikram Deshpande
- Viktoriya Korchina
- Ville Mustonen
- Vinayak Bhandari
- Vincent Ferretti
- Vincent Huang
- Vincent Huang
- Vincent J Gnanapragasam
- Vincent Khoo
- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
- Walker Hale
- Wan Choi
- Wanding Zhou
- Wang Liang-Bo
- Weerasinghe Amila
- Wei Jiao
- Wendl Michael C
- Wenyi Wang
- Wenyi Wang
- Wenyi Wang
- Wheeler David A
- William B Isaacs
- William C Faquin
- William Friedman
- William Howat
- William U Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yi Huang
- Yifei Men
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Nature Communications
- Publication date
- 01/01/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study
- Author
- A. Mohammed Kalakwa
- A. Nemer Ayoub
- Abantanga Francis A.
- Abatli Safa' Jamal
- Abbas Wisam
- Abbo Olivier
- Abdelbaqi Reem
- Abdelhady Dina Sobhy
- Abdelhafez Mohammad Omar Mohammad
- Abdelhamid Sultan S.
- Abdelmaksoud Sherif
- Abdelmoumen Roua
- Abdelmutalib Fakereldeen
- Abdul-Mumin Alhassan
- Abduljawad Fatima Mousa
- Abdullah Fizan
- Abdullah Mohd Yusof bin
- Abdulraheem Nurudeen
- Abdulrahman Alaa
- Abdulsalam Moruf Adekunle
- Abdunomonovich Dekhkonboev Avazjon
- Aboelela Ahmed
- Abouheba Mohamed
- Abrahamsson Kate
- Abrunhosa Matias Marcia
- Abu-Nejmah Fawzi
- Abuajaila Abdulsalam
- Abuattaya Adham Ashraf
- Abubakar Auwal M
- Abueideh Ahmad
- Abuhayyeh Husam Aldean
- Abuhlega Ma'aly A.
- Abukhalaf Sadi
- Abumunshar Ali Abdelhay
- Acuna Gaston
- Adams Stephen
- Adamu Sani
- Adanan Mohd Fitri Shukri bin Mohamed
- Adawi Ihda
- Adawi Samer
- Adawy Ahmad
- Ade-Ajayi Niyi
- Adegboyega Rilwan
- Ademuyiwa Adesoji
- Adesanya Opeoluwa
- Adhiwidjaja Cathline Freya
- Adofo-Ansong Nana
- Agboola Titiloye Hannah
- Agelebe Efeturi
- Aguilar Aguilar Faye
- Aguilar Gargurevich Prince Pamela
- Aguirre-Lopez Pastor
- Agulham Miguel Angelo
- Ahmad Hira
- Ahmad Zahidah Adlynee Haji
- Ahmed Hazem
- Ahmed Mahmoud Abdelfattah
- Ajai Olalekan Temitope
- Ajao Emmanuel Akinlabi
- Ajiboye Olalekan S.
- Ajrami Yara
- Ajwa Ahmad Elian Abu
- Akan M. Eren
- Akhbari Melika
- Akhter Nadeem
- Akova Fatih
- Al-Attar Hala M.
- Al-Halbouni Layana
- Al-Mamun Abdullah
- Al-Mayoof Ali Farooq
- Al-Momani Hashem M.
- Al-Mouakeh Ahmad
- Al-Rayyes Maisara
- Al-saleem Hasan Subhi Hasan Abu
- Al-Salhi Ashraf Ayman
- Al-Shwaikh Samar H.
- Al-Slaibi Ibrahim
- Al-Taher Raed Nael
- Al-Taher Raed Nael
- Al-Tammam Hiba
- Alakaloko Felix
- Alamrain Abdulwhhab Ayman Abu
- Alanguia Chipana Cathy Lee
- Alattas Khalid
- Alberto Carlos
- Albozidi Aya
- Alcántara Elvyn
- ALDIRAWI MOHAMMED A. M.
- Alebbini Mohanad Mutasem
- Alfoghi Mabroka
- Algabri Hayder Nadhim Obaid
- Alglaib Mohammed Meftah
- Alhamid Ahmad
- Alhamid Aos
- Alhassan Priscilla
- Ali Hassan
- Ali Karim Osamy
- Ali Liza
- Ali Mansour
- Alijla Sharif
- Alijla Sharif S.
- Aliwisat Ahmad Hasan
- Aljaboo Hajir
- Aljadidi Wesal Omar F. Saied
- Aljarad Ziad
- Alkareem Raghad mohammad abdu
- Almada Suad Ahmed
- Almadhoun Walaa
- Almasri Murad
- Almeida Aguiar Arthur
- Almeida Giovana
- Almengar Inas
- Almohamady Hisham
- Almosaibli Mohammad
- Almusleh Tasneem Fathi Hasan
- Alnaeri Ali
- Alnahhal Khaled
- Alonso Verónica
- Alosta Hasan Mustafa
- Alqarajeh Firas
- Alqor Mohammad Omar Ibrahim
- Alsaadi Nijmeh Nasser
- Alsaggaf Ameen
- Alsaied Amer
- Alser Mohammed
- Alser Osaid H.
- Alshaikhkhalil Haya Abdulnasser Ali
- Alshehri Abdullah
- Altaweel Ahmed
- Altın Merve
- Altokhais Tariq
- Altomi Mohamed
- Alturki Fahad
- Alvarado Zelada Jackelyne
- Alves Dutra da Silva Érika
- Alwadia Soha Marwan Salem
- Alwaggaa Nouriyah Ali
- Alzamari Ainaa Ata Mohammad
- Alzate Gallego Edgar
- Alzeer Asmahan Mohammad Suliman
- Alzerei Sulaiman T.
- Alzraikat Sayel H.
- Alzubair Afnan
- Alzughayyar Tareq Z.
- Amad Mohamed
- Amado Fernando
- Amaechi Chukwubinyelum
- Amah Christopher Chim
- Amarin Justin Z.
- Amarin Marzouq
- Ambriz-González Gabriela
- Ameh Emmanuel
- Amjad Muhammad Bin
- Amoabin Afua Amoabin
- Anatole Nzanzu
- Anatole Nzanzu Kipata
- Anaya Dominguez Marlene
- Anaya Firas
- Andrade Jerhy
- Andreussi Lorna
- Anicama Elias Rocio
- Annajjar Mohammad hasan
- Anntinea Jessmine
- Antunes Amanda
- Antunez-Mora Alexandra
- Anyomih Theophilus Teddy Kojo
- Anzelewicz Stefan
- Apaza Leon Jose Luis
- Appeadu-Mensah William
- Arabiat Esraa
- Arafa Mohamed Ahmed
- Arafat Hasan
- Aragão Liliana
- Arancibia Gutiérrez Elsa
- Aranda Sánchez Cristian Irela
- Arar Ahmad Samih
- Arauco Jenny
- Arbab Hana
- Arboleda Jenny
- Aremo Anuoluwapo
- Arnadóttir Helena
- Arnaud Alexis P
- Arnold Marion
- Arnoletto Lucia Beatriz
- Arrmali Saddam
- Arrmalli Lina Ali
- Arshad Muhammad
- Arthur Felicity
- Arul Suren
- Ashour Dina Ayman
- Ashour Yara shareef
- Aslan Yakup
- Aspirot Ann
- Assi Ahmadfateh
- Assi Muath Abdelrahem Fuad
- Astudillo Miguel
- Atatri Yazid yousef mahmoud
- Atta Ahmed
- Attia Alaa Mobarak
- Avile Romina
- Avolio Luigi
- Awad Hadeel
- Aydin Emrah
- Aykut Merve
- Ayque Rosas Fernando
- Aziz Dayang Anita Abdul
- Ba'baa' Basheer
- Badr Helmy
- Baertschiger Reto
- Bagbio Dominic
- Bah Abdoulie
- Bai Qiang
- Bai Yu Zuo
- Baistrocchi Valentina
- Bakar Ainal Huda Abu
- Baker Wisam
- Ballouhey Quentin
- Balousha Abrar ghassan
- Bamanga Ahmed
- Baniowda Muath A. M.
- Bao Xiaozhou
- Barauskas Vidmantas
- Barbosa Patricia Reis
- Baseggio Natalia
- Bashir Fatma
- Bashir Muhammad Kashif
- Bassan Gonçalves Paulo César
- Bataineh Ziad A.
- Batal Mohammad Mohannad
- Bazozi Hana Milad
- Beasley Spencer
- Becker Karin
- Belmino Gadelha Aluísio Augusto
- Benaskeur Yousra-Imane
- Beres Alana
- Berková Klára
- Bernaus Marianela
- Berrocal Anaya Waldo
- Berzanskis Mindaugas
- Beshtawi Doha mustafa saleh
- Beşir Ahmet
- Bianchin Ezequiel
- Bibas Fatma
- Biber Elna
- Bischoff Cristiano
- Bismarck Sylvester von
- Blain Otilia Eva
- Blanc Thomas
- Blazquez-Gomez Eva
- Bobadilla Morales Lucina
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- Sherzad Ajmal
- Shiha Eman Abu
- Shikha Anas
- Shinondo Patricia
- Shnishah Aya Essam
- Shokri Hajer Ali
- Shonubi Amo
- Shoubaki Ali
- Shu Qiang
- Shyaka Gashugi Ian
- Siddiqui Sabina M
- Sidler Daniel
- Sigalet David
- Sihem Brahimi
- Sikwete Guigui
- Siles Hinojosa Alexander
- Silva Beltrán Nathalia
- Silva dos Santos Carla
- Silva Ferreira dos Santos Marília
- Silva Elisângela
- Silva Julian
- Silva Karina Ilheu da
- Silva Yanina
- Sim Marcus
- Simeon Turatsinze
- Simon Soledad
- Sindi Omar
- Singer Georg
- Singh Michael
- Sivaraj Jayaram
- Sivasubramaniam Mithila
- Siyotula Thozama
- Slavkovi Andjelka
- Slavkovic Milan
- Smith Emily Rose
- Soares de Fraga José Carlos
- Sobrero Helena
- Soccorso Giampiero
- Sokolovic Emir
- Sola Juan
- Solanki Meghna
- Soliman Nourhan Akram
- Son Joonhyuk
- Song Eung song
- Soomro Aqil
- Sotelo Sanchez Jennifer
- Souhem Touabti
- Soula Enas
- Souza Barros Beatriz
- Souza Machado Ana Beatriz
- Sowe Babucarr
- Sriniworn Anan
- St-Louis Etienne
- St-Vil Dickens
- Stark Domitille
- Stojanovic Miona
- Stringer Mark
- Strumila Arunas
- Sueiras Ines
- Sulca Cruzado Gladys Johana
- Suleiman Faruk
- Sultana Sadia
- Suradi Haya H.
- Sutcliffe Jonathan
- Suzana Trein Cristine
- Suzen Alev
- Svensson Emma
- Svirsky Alexander
- Swessi Hisham
- Syed Shahnoor
- Syovata Francisa
- Szklarz Maria Tatiana
- Sánchez Paredes Vicente
- Sönmez Kaan
- T Shajin
- T. Sambo Yusuf
- Tababa Osama
- Tabari Ahmad Khaleghnejad
- Tabiri Stephen
- Tadesse Amezene
- Tahyneh Abdulraheem Adnan Abdulraheem
- Takrouney Mohammed Hamada
- Talat Nabila
- Tallaa Mohamed Anwer El
- Tamada Horácio
- Tamaddun Hafatin Fairos bt
- Tang Weibing
- Tanimola Adebayo Gbenga
- Tanming Patchareeporn
- Tanny Sharman Tan
- Tantush Sara Abobaker
- Tarabishi Ahmad Sankari
- Tarek Ahmed
- Tarmohamed Murad
- Tarniba Sara Ali
- Tarrado Xavier
- Tasker David
- Teague Warwick
- Telles Leila
- Temilade Bolarinwa Bolanle
- Teo Rufinah
- Teran Araceli
- Terzic Sabina
- Testoni Daniela
- Thaiwatcharamas Kanokrat
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- Thomas Gordon
- Thomas Mark C
- Thompson Hannah
- Till Holger
- Tillig Bernd
- Tinoco Guzmán Nestor Julien
- Tobor Szymon
- Toczewski Krystian
- Tom Alan
- Toplicic Djordje
- Toral Eliana
- Torres Miranda Cesar
- Torres Picón Cintya Maria de Jesus
- Torres-Canchala Laura
- Toselli Luzia
- Touabti Souhem
- Toufik Iaiche Achour
- Tovar Gutierrez Natalia
- Trainba Sara
- Trigoso Mori Fernando
- Trindade Deyl Rafael
- Trojanová Barbora
- Trypens Agata
- Tumi Mohamed
- Tuyishime Eugene
- Türkyılmaz Canan
- Türkyılmaz Zafer
- Ubhi Harmony
- Ugwu Jideofor O
- Ugwunne Chuka A
- Ulasi Ikechukwu
- Ullrich Sarah
- Vacek Jonathan
- Vaitkiene Agota
- Valencia Santiago
- Valeria Pelussi
- Valerio-Vazquez Rafael
- Vanis Nedim
- Vaquila Justo
- Varela Maria Florencia
- Vasquez Matos Juan Pedro
- Vatta Fabrizio
- Vega Centen Stephany
- Velaña Junior
- Vellusamy V Muthualhagi M
- Venant Ntakarutimana
- Venkatraman Soundappan Sannappa
- Verdeata Roxana
- Verduga Ivan
- Verduga Leonardo
- Vergara Carolina
- Verkauskas Gilvydas
- Veronica Sofficci
- Vervoort Dominique
- Vianney Butoyi Jean Marie
- Vida Lucian
- Vidal Cristian R. Zalles
- Vierboom Liam
- Villalba Villalba Araceli
- Villegas Silva Raúl
- Vinskaite Asta
- Vos Corné de
- Vosoughi Armin
- Wafa Tamer
- Walker Gregor
- Wang Jinhu
- Wang Peng
- Waseem Basma
- Weeratunga Naveen
- Weiszewsk Alicja
- Wen Gang
- Werneck Raposo Juliana
- Wester Tomas
- Wijekoon Naveen
- Wilke Alexandra
- Williams Isabelle
- Williams Omolara
- Williams Regan
- Win Win Sabai Phyu
- Wishah Bisan D. M.
- Wishah Nidal
- Wissanji Hussein
- Wolak Przemyslaw
- Wolny Agnieszka
- Wong Janice
- Wong Marilyn
- Wright Naomi Jane
- Wu Guowei
- Wyrzykowski Dariusz
- Xiaodong Guo
- Xie Hua
- Yacoub Mina A.
- Yaghi Bashar
- Yaghi Dua Hasan
- Yalcinkaya Ali
- Yang Hee-Beom
- Yanis Ahmad H.
- Yanowsky Reyes Guillermo
- Yao Yang
- Yapo Benjamin
- Yarza Fernández Jessica
- Yeniay Aslı Öztürk
- Yola Mariya Mukhtar
- Yong Feng
- Youn Joong Kee
- Yousuf Hina
- Yu Mengnan
- Yu Raisa
- Yuen Quah Soong
- Yuldashev Rustam Z.
- Yunus Aayenah
- Za'nouneh Faris J. Abu
- Zaghlol Louay Y.
- Zahari Dato' Dr Zakaria bin
- Zain Mostafa
- Zaman Azrina SK
- Zanellato Josiane Bernartt
- Zarwawi Ahmad Zulhisyam bin
- Zea-Salazar Luis Enrique
- Zeinelabdeen Ali
- Zhao Xiaoxia
- Zhu Jianming
- Zhu Libin
- Zidan Mazen
- Zivanovic Dragoljub
- Zottis Barcelos Fabricio
- Zreeg Dafer abdulhakim . S.
- Zurikat Rajai O.
- Zvizdic Nada
- Zvizdic Zlatan
- Çekiç Bahanur
- Çelik Müge
- Özçelik Zerrin
- Şeref Kıvanç
- Šafus Antonín
- Škvařil Jan
- Štichhauer Radek
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2021
- Field of study
Summary
Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally.
Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies
have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of
the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income
countries globally, and identified factors associated with mortality.
Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to
hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis,
exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a
minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical
status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary
intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause,
in-hospital mortality for all conditions combined and each condition individually, stratified by country income status.
We did a complete case analysis.
Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital
diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal
malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome
countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male.
Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3).
Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income
countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups).
Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome
countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries;
p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients
combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11],
p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20
[1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention
(ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety
checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed
(ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of
parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65
[0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality.
Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome,
middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will
be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger
than 5 years by 2030
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
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- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
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- Anthony J Gill
- Anthony Ng
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- Antonia L Pritchard
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- Aparna Prasad
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- Darlene Lee
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- Dave Larson
- David A Wheeler
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- Edward W Rowe
- Eigo Shimizu
- Ekta Khurana
- Elaine R Mardis
- Electron Kebebew
- Elena Piñeiro-Yáñez
- Elena Provenzano
- Elias Campo
- Elisabet Barrera
- Elisabetta Sereni
- Elizabeth A Musgrove
- Elizabeth L Appelbaum
- Elizabeth L Christie
- Elli Papaemmanuil
- Ellrott Kyle
- Emilie Lalonde
- Eoghan Harrington
- Eric Chuah
- Eric Green
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- Fabien C Lamaze
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- Fan Yang
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- Faraz Hach
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- Faridah Mbabaali
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- Federico Abascal
- Fei-Fei Liu
- Felicity Newell
- Fenglin Liu
- Fernanda Amary
- Ferran Muiños
- Florian Markowetz
- Fouad Yousif
- Francesc Muyas
- Francesco Favero
- Francisco M De La Vega
- Francisco Sanchez-Vega
- Fraser R Duthie
- Fred Sweep
- Freddie C Hamdy
- Fruzsina Molnár-Gábor
- Fumie Hosoda
- G Petur Nielsen
- G Steven Bova
- Gad Getz
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- Gaetan MacGrogan
- Gaetano Finocchiaro
- Gary D Bader
- Gavin Ha
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- Genta Nagae
- Geoff Macintyre
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- Georgia Escaramis
- Georgina V Long
- Gerd Nettekoven
- German M Demidov
- German Ott
- Gerrit K Hooijer
- Gerstein Mark B
- Gert G Van den Eynden
- Getz Gad
- Ghislaine Scelo
- Giada Bonizzato
- Giampaolo Tortora
- Gilles Romieu
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- Giovanni Marchegiani
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- Giuseppe Malleo
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- Hirofumi Rokutan
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- Yogesh Kumar
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- Yong Hou
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- Yongzhan Nie
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- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Publication date
- 01/01/2020
- Field of study
The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts.The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that -80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAFPeer reviewe
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- Author
- Aaltonen Lauri A.
- Abascal Federico
- Abeshouse Adam
- Aburatani Hiroyuki
- Adams David J.
- Agrawal Nishant
- Ahn Keun Soo
- Ahn Sung-Min
- Aikata Hiroshi
- Akbani Rehan
- Akdemir Kadir C.
- Al-Ahmadie Hikmat
- Al-Sedairy Sultan T.
- Al-Shahrour Fatima
- Alawi Malik
- Albert Monique
- Aldape Kenneth
- Alexandrov Ludmil B.
- Ally Adrian
- Alsop Kathryn
- Alvarez Eva G.
- Amary Fernanda
- Amin Samirkumar B.
- Aminou Brice
- Ammerpohl Ole
- Anderson Matthew J.
- Ang Yeng
- Antonello Davide
- Anur Pavana
- Aparicio Samuel
- Appelbaum Elizabeth L.
- Arai Yasuhito
- Aretz Axel
- Arihiro Koji
- Ariizumi Shun-ichi
- Armenia Joshua
- Arnau Gisela Mir
- Arnould Laurent
- Asa Sylvia
- Assenov Yassen
- Atwal Gurnit
- Aukema Sietse
- Auman J. Todd
- Aure Miriam R.
- Awadalla Philip
- Aymerich Marta
- Bader Gary D.
- Baez-Ortega Adrian
- Bailey Matthew H.
- Bailey Peter J.
- Balasundaram Miruna
- Balu Saianand
- Bandopadhayay Pratiti
- Banks Rosamonde E.
- Barbi Stefano
- Barbour Andrew P.
- Barenboim Jonathan
- Barnholtz-Sloan Jill
- Barr Hugh
- Barrera Elisabet
- Bartlett John
- Bartolome Javier
- Bassi Claudio
- Bathe Oliver F.
- Baumhoer Daniel
- Bavi Prashant
- Baylin Stephen B.
- Bazant Wojciech
- Beardsmore Duncan
- Beck Timothy A.
- Behjati Sam
- Behren Andreas
- Bell Cindy
- Beltran Sergi
- Benz Christopher
- Berchuck Andrew
- Bergmann Anke K.
- Bergstrom Erik N.
- Berman Benjamin P.
- Berney Daniel M.
- Bernhart Stephan H.
- Beroukhim Rameen
- Berrios Mario
- Bersani Samantha
- Bertl Johanna
- Betancourt Miguel
- Bhandari Vinayak
- Bhosle Shriram G.
- Biankin Andrew V.
- Bieg Matthias
- Bigner Darell
- Binder Hans
- Birney Ewan
- Birrer Michael
- Biswas Nidhan K.
- Bjerkehagen Bodil
- Bodenheimer Tom
- Boice Lori
- Bonizzato Giada
- Boot Arnoud
- Bootwalla Moiz S.
- Borg Ake
- Borkhardt Arndt
- Boroevich Keith A.
- Borozan Ivan
- Borst Christoph
- Bosenberg Marcus
- Bosio Mattia
- Boultwood Jacqueline
- Bourque Guillaume
- Boutros Paul C.
- Bova G. Steven
- Bowen David T.
- Bowlby Reanne
- Bowtell David D. L.
- Boyault Sandrine
- Boyce Rich
- Boyd Jeffrey
- Brazma Alvis
- Brennan Paul
- Brewer Daniel S.
- Brinkman Arie B.
- Bristow Robert G.
- Broaddus Russell R.
- Brock Jane E.
- Brock Malcolm
- Broeks Annegien
- Brooks Angela N.
- Brooks Denise
- Brors Benedikt
- Brunak Søren
- Bruxner Timothy J. C.
- Bruzos Alicia L.
- Buchanan Alex
- Buchhalter Ivo
- Buchholz Christiane
- Bullman Susan
- Burke Hazel
- Burkhardt Birgit
- Burns Kathleen H.
- Busanovich John
- Bustamante Carlos D.
- Butler Adam P.
- Butte Atul J.
- Byrne Niall J.
- Børresen-Dale Anne-Lise
- Caesar-Johnson Samantha J.
- Cafferkey Andy
- Cahill Declan
- Calabrese Claudia
- Caldas Carlos
- Calvo Fabien
- Camacho Niedzica
- Campbell Peter J.
- Campo Elias
- Cantù Cinzia
- Cao Shaolong
- Carey Thomas E.
- Carlevaro-Fita Joana
- Carlsen Rebecca
- Cataldo Ivana
- Cazzola Mario
- Cebon Jonathan
- Cerfolio Robert
- Chadwick Dianne E.
- Chakravarty Dimple
- Chalmers Don
- Chan Calvin Wing Yiu
- Chan Kin
- Chan-Seng-Yue Michelle
- Chandan Vishal S.
- Chang David K.
- Chanock Stephen J.
- Chantrill Lorraine A.
- Chateigner Aurélien
- Chatterjee Nilanjan
- Chayama Kazuaki
- Chen Hsiao-Wei
- Chen Jieming
- Chen Ken
- Chen Yiwen
- Chen Zhaohong
- Cherniack Andrew D.
- Chien Jeremy
- Chiew Yoke-Eng
- Chin Suet-Feung
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- Cho Sunghoon
- Choi Jung Kyoon
- Choi Wan
- Chomienne Christine
- Chong Zechen
- Choo Su Pin
- Chou Angela
- Christ Angelika N.
- Christie Elizabeth L.
- Chuah Eric
- Cibulskis Carrie
- Cibulskis Kristian
- Cingarlini Sara
- Clapham Peter
- Claviez Alexander
- Cleary Sean
- Cloonan Nicole
- Cmero Marek
- Collins Colin C.
- Connor Ashton A.
- Cooke Susanna L.
- Cooper Colin S.
- Cope Leslie
- Corbo Vincenzo
- Cordes Matthew G.
- Cordner Stephen M.
- Cortés-Ciriano Isidro
- Covington Kyle
- Cowin Prue A.
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- Wright Adam J.
- Wright Derek W.
- Wright Mark H.
- Wu Chin-Lee
- Wu Dai-Ying
- Wu Guanming
- Wu Jianmin
- Wu Kui
- Wu Yang
- Wu Zhenggang
- Xi Liu
- Xia Tian
- Xiang Qian
- Xiao Xiao
- Xing Rui
- Xiong Heng
- Xu Qinying
- Xu Yanxun
- Xue Hong
- Yachida Shinichi
- Yakneen Sergei
- Yamaguchi Rui
- Yamaguchi Takafumi N.
- Yamamoto Masakazu
- Yamamoto Shogo
- Yamaue Hiroki
- Yang Fan
- Yang Huanming
- Yang Jean Y.
- Yang Liming
- Yang Lixing
- Yang Shanlin
- Yang Tsun-Po
- Yang Yang
- Yao Xiaotong
- Yaspo Marie-Laure
- Yates Lucy
- Yau Christina
- Ye Chen
- Ye Kai
- Yellapantula Venkata D.
- Yoon Christopher J.
- Yoon Sung-Soo
- Yousif Fouad
- Yu Jun
- Yu Kaixian
- Yu Willie
- Yu Yingyan
- Yuan Ke
- Yuan Yuan
- Yuen Denis
- Yugawa Takashi
- Yung Christina K.
- Zaikova Olga
- Zamora Jorge
- Zapatka Marc
- Zenklusen Jean C.
- Zenz Thorsten
- Zeps Nikolajs
- Zhang Cheng-Zhong
- Zhang Fan
- Zhang Hailei
- Zhang Hongwei
- Zhang Hongxin
- Zhang Jiashan
- Zhang Jing
- Zhang Junjun
- Zhang Xiuqing
- Zhang Xuanping
- Zhang Yan
- Zhang Zemin
- Zhao Zhongming
- Zheng Liangtao
- Zheng Xiuqing
- Zhou Wanding
- Zhou Yong
- Zhu Bin
- Zhu Hongtu
- Zhu Jingchun
- Zhu Shida
- Zou Lihua
- Zou Xueqing
- Publication venue
- Nature Communications
- Publication date
- 28/08/2020
- Field of study
Funder: Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada (NSERC Canadian Network for Research and Innovation in Machining Technology); doi: https://doi.org/10.13039/501100002790Funder: Genome Canada (Génome Canada); doi: https://doi.org/10.13039/100008762Funder: Canada Foundation for Innovation (Fondation canadienne pour l'innovation); doi: https://doi.org/10.13039/501100000196Funder: Terry Fox Research Institute (Institut de Recherche Terry Fox); doi: https://doi.org/10.13039/501100004376Abstract: Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research
Recommended from our members
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- Aaltonen Lauri A.
- Abascal Federico
- Abeshouse Adam
- Aburatani Hiroyuki
- Adams David J.
- Agrawal Nishant
- Ahn Keun Soo
- Ahn Sung-Min
- Aikata Hiroshi
- Akbani Rehan
- Akdemir Kadir C.
- Al-Ahmadie Hikmat
- Al-Sedairy Sultan T.
- Al-Shahrour Fatima
- Alawi Malik
- Albert Monique
- Aldape Kenneth
- Alexandrov Ludmil B.
- Ally Adrian
- Alsop Kathryn
- Alvarez Eva G.
- Amary Fernanda
- Amin Samirkumar B.
- Aminou Brice
- Ammerpohl Ole
- Anderson Matthew J.
- Ang Yeng
- Antonello Davide
- Anur Pavana
- Aparicio Samuel
- Appelbaum Elizabeth L.
- Arai Yasuhito
- Aretz Axel
- Arihiro Koji
- Ariizumi Shun-ichi
- Armenia Joshua
- Arnau Gisela Mir
- Arnould Laurent
- Asa Sylvia
- Assenov Yassen
- Atwal Gurnit
- Aukema Sietse
- Auman J. Todd
- Aure Miriam R.
- Awadalla Philip
- Aymerich Marta
- Bader Gary D.
- Baez-Ortega Adrian
- Bailey Matthew H.
- Bailey Peter J.
- Balasundaram Miruna
- Balu Saianand
- Bandopadhayay Pratiti
- Banks Rosamonde E.
- Barbi Stefano
- Barbour Andrew P.
- Barenboim Jonathan
- Barnholtz-Sloan Jill
- Barr Hugh
- Barrera Elisabet
- Bartlett John
- Bartolome Javier
- Bassi Claudio
- Bathe Oliver F.
- Baumhoer Daniel
- Bavi Prashant
- Baylin Stephen B.
- Bazant Wojciech
- Beardsmore Duncan
- Beck Timothy A.
- Behjati Sam
- Behren Andreas
- Bell Cindy
- Beltran Sergi
- Benz Christopher
- Berchuck Andrew
- Bergmann Anke K.
- Bergstrom Erik N.
- Berman Benjamin P.
- Berney Daniel M.
- Bernhart Stephan H.
- Beroukhim Rameen
- Berrios Mario
- Bersani Samantha
- Bertl Johanna
- Betancourt Miguel
- Bhandari Vinayak
- Bhosle Shriram G.
- Biankin Andrew V.
- Bieg Matthias
- Bigner Darell
- Bin Zhu
- Binder Hans
- Birney Ewan
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- Boice Lori
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- Boot Arnoud
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- Xiao Xiao
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- Yachida Shinichi
- Yakneen Sergei
- Yamaguchi Rui
- Yamaguchi Takafumi N.
- Yamamoto Masakazu
- Yamamoto Shogo
- Yamaue Hiroki
- Yang Fan
- Yang Huanming
- Yang Jean Y.
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- Yang Lixing
- Yang Shanlin
- Yang Tsun-Po
- Yang Yang
- Yao Xiaotong
- Yaspo Marie-Laure
- Yates Lucy
- Yau Christina
- Ye Chen
- Ye Kai
- Yellapantula Venkata D.
- Yoon Christopher J.
- Yoon Sung-Soo
- Yousif Fouad
- Yu Jun
- Yu Kaixian
- Yu Willie
- Yu Yingyan
- Yuan Ke
- Yuan Yuan
- Yuen Denis
- Yugawa Takashi
- Yung Christina K.
- Zaikova Olga
- Zamora Jorge
- Zapatka Marc
- Zenklusen Jean C.
- Zenz Thorsten
- Zeps Nikolajs
- Zhang Cheng-Zhong
- Zhang Fan
- Zhang Hailei
- Zhang Hongwei
- Zhang Hongxin
- Zhang Jiashan
- Zhang Jing
- Zhang Junjun
- Zhang Xiuqing
- Zhang Xuanping
- Zhang Yan
- Zhang Zemin
- Zhao Zhongming
- Zheng Liangtao
- Zheng Xiuqing
- Zhou Wanding
- Zhou Yong
- Zhu Hongtu
- Zhu Jingchun
- Zhu Shida
- Zou Lihua
- Zou Xueqing
- Publication venue
- Nature Communications
- Publication date
- 21/09/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
Sex differences in oncogenic mutational processes
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam Margolin
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
- Anthony DiBiase
- Anthony J Gill
- Anthony Ng
- Anthony R Green
- Antonia L Pritchard
- Antonio Pea
- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
- Arindam Maitra
- Armando Lopez-Guillermo
- Arndt Borkhardt
- Arnoud Boot
- Asger Hobolth
- Ashley Williams
- Ashton A Connor
- Atul J Butte
- Aurélien Chateigner
- Austin J Hepperla
- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Barbara Hutter
- Barbara Kremeyer
- Bartha M Knoppers
- Beifang Niu
- Benedikt Brors
- Benita Kiat Tee Tan
- Benjamin J Raphael
- Benjamin P Berman
- Benjamin Raeder
- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
- Bin Tean Teh
- Bin Zhu
- Birgit Burkhardt
- Bishoy M Faltas
- Bishoy M Faltas
- Bodil Bjerkehagen
- Bogdan Czerniak
- Boris Winterhoff
- Borislav C Rusev
- Boutros
- Bradly G Wouters
- Brandi N Davis-Dusenbery
- Brian Craft
- Brian D O'Connor
- Brian Patrick O'Neill
- Brice Aminou
- Calvin Wing Yiu Chan
- Cameron M Soulette
- Carl Herrmann
- Carl Morrison
- Carlo Gambacorti-Passerini
- Carlos Caldas
- Carlos D Bustamante
- Carlos López-Otín
- Carlota Rubio-Perez
- Carmen Gomez
- Carolien H M van Deurzen
- Carolyn M Hutter
- Carrie Cibulskis
- Caterina Vicentini
- Catherine A Shang
- Catherine D Moser
- Catherine J Kennedy
- Catrina C Fronick
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- Chang Li
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- Charles Saller
- Charles Short
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- Chawalit Pairojkul
- Chen Hong
- Chen Ye
- Cheng-Zhong Zhang
- Chin-Lee Wu
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- Chip Stewart
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- Christina K Yung
- Christina Yau
- Christine A Iacobuzio-Donahue
- Christine Chomienne
- Christine Desmedt
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- Christoph Plass
- Christopher A Miller
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- Christopher J Scarlett
- Christopher J Yoon
- Christopher M Lalansingh
- Christopher Ogden
- Christopher S Foster
- Christopher Umbricht
- Christopher W Toon
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- Cindy Bell
- Cinzia Cantù
- Ciyue Shen
- Claes Wadelius
- Clare Verrill
- Clarissa Gerhauser
- Claudia Calabrese
- Claudio Bassi
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- Claudiu Farcas
- Clemency Jolly
- Colin A Purdie
- Colin A Semple
- Colin A Semple
- Colin C Collins
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- Conrad R Leonard
- Constance H Li
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- Corbin D Jones
- Craig Shriver
- Cristina López
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- D Neil Hayes
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- Daisuke Komura
- Dale W Garsed
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- Daniel Baumhoer
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- Daniel J Weisenberger
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- Daniel Rosebrock
- Daniel S Brewer
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- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
- Darrin F Taylor
- David A Wheeler
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- Dennis C Sgroi
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- Dennis Karsch
- Dennis T Maglinte
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- Derek W Wright
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- Dieter Kube
- Dieter Weichenhan
- Dilip D Giri
- Dimitri Livitz
- Dimple Chakravarty
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- Dominik Glodzik
- Don Chalmers
- Dongbing Liu
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- Dorthe Grabau
- Douglas A Levine
- Douglas F Easton
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- Eigo Shimizu
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- Elena Piñeiro-Yáñez
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- Elli Papaemmanuil
- Emilie Lalonde
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- Fan Yang
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- Faridah Mbabaali
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- Felicity Newell
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- Florian Markowetz
- Francesc Muyas
- Francesco Favero
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- Francisco Sanchez-Vega
- Fraser R Duthie
- Fred Sweep
- Freddie C Hamdy
- Fruzsina Molnár-Gábor
- Fumie Hosoda
- G Petur Nielsen
- G Petur Nielsen
- G Steven Bova
- Gad Getz
- Gad Getz
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- Gaetano Finocchiaro
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- Gavin Ha
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- Genta Nagae
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- Georgia Escaramis
- Georgina V Long
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- German Ott
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- Gurnit Atwal
- Hailei Zhang
- Haiyan Irene Li
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- Hugh Barr
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- Ian Welch
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- Ivica Letunic
- Ivo Buchhalter
- Ivo G Gut
- Ivon Harliwong
- Izar Villasante
- Iñigo Martincorena
- J Lynn Fink
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- J Todd Auman
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- Jaclyn Smith
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- Jane E Brock
- Janet S Graham
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- Jason Huse
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- Javier Bartolomé Rodriguez
- Javier Temes
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- Vikram Deshpande
- Vikram Deshpande
- Viktoriya Korchina
- Ville Mustonen
- Vinayak Bhandari
- Vincent Ferretti
- Vincent Huang
- Vincent J Gnanapragasam
- Vincent Khoo
- Vincenzo Corbo
- Vishal S Chandan
- Volker Hovestadt
- W Kimryn Rathmell
- W M Linehan
- Wan Choi
- Wanding Zhou
- Wei Jiao
- Wei Jiao
- Wenyi Wang
- William B Isaacs
- William C Faquin
- William C Faquin
- William Friedman
- William Howat
- William Meyerson
- Willie Yu
- Winghing Wong
- Wojciech Bazant
- Wolfgang Huber
- Wolfram Klapper
- Xavier Estivill
- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Yousif Fouad
- Youyong Lu
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Publication date
- 01/01/2020
- Field of study
Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Peer reviewe
Comprehensive genomic characterization of head and neck squamous cell carcinomas
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- Agrawal Nishant
- Agrawal Nishant
- Ahn Julie
- Akbani Rehan
- Aksoy B. Arman
- Ally Adrian
- Auman J. Todd
- Baboud Julien
- Balasundaram Miruna
- Balu Saianand
- Baylin Stephen B.
- Beard Christina
- Benz Christopher
- Benz Stephen
- Beroukhim Rameen
- Biroi Inanc
- Bishop Justin
- Bishop Justin
- Black Aaron D.
- Bodenheimer Thomas
- Boice Lori
- Bollag Roni
- Bootwalla Moiz
- Boutros Paul C.
- Boutros Paul C.
- Bowen Jay
- Bowlby Reanne
- Bradford Carol R.
- Bristow Christopher A.
- Brooks Denise
- Brown Brandee T.
- Bruce Jeff P.
- Bruce Jeff P.
- Buda Elizabeth
- Burnett Ken
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- Burton Robert A.
- Butterfield Yaron S. N.
- Byers Lauren Averett
- Califano Joseph
- Califano Joseph
- Carey Thomas E.
- Carey Thomas E.
- Carlsen Rebecca
- Carter Scott L.
- Casasent Tod
- Chan Timothy A.
- Chang Kyle
- Chao Hsu
- Chen Chu
- Chen Zhong
- Cheng Dean
- Cheng Hui
- Chepeha Douglas B.
- Chera Bhishamjit S.
- Cherniack Andrew D.
- Chin Lynda
- Chin Lynda
- Chiosea Simion I.
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- Ciriello Giovanni
- Cohen Ezra
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- Dhalla Noreen
- Diao Lixia
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- Jung Joonil
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- Kovar Christie
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- Ladanyi Marc
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- Maglinte Dennis T.
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- Meng Shaowu
- Meyerson Matthew
- Mieczkowski Piotr A.
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- Mose Lisle E.
- Motter Thomas
- Moyer Jeffrey S.
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- Muzny Donna
- Myers Jeff
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- Ozenberger Bradley A.
- Pantazi Angeliki
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- Pedamallu Chandra Sekhar
- Penny Robert
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- Perez-Ordonez Bayardo
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- Pham Michelle
- Pickering Curtis R.
- Pihl Todd D.
- Pot David A.
- Prince Mark E.
- Prins Jan F.
- Protopopov Alexei
- Prystowsky Michael
- Ramirez Nilsa C.
- Ramirez Ricardo
- Rathmell W. Kimryn
- Reid Jeff
- Ren Xiaojia
- Reva Boris
- Roach Jeffrey
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- Romkes Marjorie
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- Rozek Laura S.
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- Sandusky George
- Santoso Netty
- Sartor Maureen A.
- Sartor Maureen A.
- Schein Jacqueline E.
- Schultz Nikolaus
- Schumacher Steven E.
- Seethala Raja
- Seethala Raja
- Seidman Jonathan
- Seiwert Tanguy Y.
- Seth Sahil
- Shaw Kenna R. Mills
- Shelton Candace
- Shelton Troy
- Shelton Troy
- Shen Ronglai
- Sherman Mark
- Sheth Margi
- Shi Yan
- Shockley William W.
- Shores Carol G.
- Si Han
- Simons Janae V.
- Singh Darshan
- Sinhal Rileen
- Sipahimalan Payal
- Sofia Heidi J.
- Soloway Matthew G.
- Song Xingzhi
- Sougnez Carrie
- Sougnez Carrie
- Srinivasan Deepak
- Stojanov Petar
- Stuart Joshua
- Suchorska Wiktoria
- Sumer S. Onur
- Sun Yichao
- Szybiak Bartosz
- Tam Angela
- Tan Donghui
- Tang Jiabin
- Tarnuzzer Roy
- Tarvi Katherine
- Taylor Barry S.
- Taylor Evan G.
- Thiessen Nina
- Thorne Leigh
- Triche Timothy, Jr.
- Tward Aaron D.
- Tward Aaron D.
- Van den Berg David J.
- Van Waes Carter
- Veluvolu Umadevi
- Voet Doug
- Waggott Daryl M.
- Waggott Daryl M.
- Waldron John
- Walline Heather M.
- Walter Vonn
- Walton Jessica S.
- Wan Yunhu
- Wang Jing
- Wang Kai
- Wang Zhining
- Waring Scot
- Weinberger Paul
- Weinhold Nils
- Weinstein John
- Weisenberger Daniel J.
- Weissler Mark C.
- Wheeler David
- Wilkerson Matthew D.
- William William N., Jr.
- Wise Lisa
- Wiznerowicz Maciej
- Wiznerowicz Maciej
- Wolf Gregory T.
- Wong Tina
- Wrenn Sylvia
- Wu Junyuan
- Xi Liu
- Xu Andrew W.
- Yang Liming
- Yang Lixing
- Yarbrough Wendell G.
- Yarbrough Wendell G.
- Yau Christina
- Yena Peggy
- Yena Peggy
- Zack Travis I.
- Zanation Adam M.
- Zeng Dong
- Zenklusen Jean Claude
- Zhang Hailei
- Zhang Jianhua
- Zhang Jiexin
- Zhao Ni
- Zmuda Erik
- Zou Lihua
- Zuo Zhixiang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 28/03/2016
- Field of study
The Cancer Genome Atlas profiled 279 head and neck squamous cell carcinomas (HNSCCs) to provide a comprehensive landscape of somatic genomic alterations. Here we show that human-papillomavirus-associated tumours are dominated by helical domain mutations of the oncogene PIK3CA, novel alterations involving loss of TRAF3, and amplification of the cell cycle gene E2F1. Smoking-related HNSCCs demonstrate near universal loss-of-function TP53 mutations and CDKN2A inactivation with frequent copy number alterations including amplification of 3q26/28 and 11q13/22. A subgroup of oral cavity tumours with favourable clinical outcomes displayed infrequent copy number alterations in conjunction with activating mutations of HRAS or PIK3CA, coupled with inactivating mutations of CASP8, NOTCH1 and TP53. Other distinct subgroups contained loss-of-function alterations of the chromatin modifier NSD1, WNT pathway genes AJUBA and FAT1, and activation of oxidative stress factor NFE2L2, mainly in laryngeal tumours. Therapeutic candidate alterations were identified in most HNSCCsclose9