Imperial College London
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Erik Mayer

Faculty of Medicine, Department of Surgery & Cancer

Clinical Reader in Urology
 
 
 
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e.mayer Website

 
 
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Location

 

1020Queen Elizabeth the Queen Mother Wing (QEQM)St Mary's Campus

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Summary

 

Publications

Citation

BibTex format

@article{Campbell:2020:10.1038/s41586-020-1969-6,
author = {Campbell, PJ and Getz, G and Korbel, JO and Stuart, JM and Jennings, JL and Stein, LD and Perry, MD and Nahal-Bose, HK and Ouellette, BFF and Li, CH and Rheinbay, E and Nielsen, GP and Sgroi, DC and Wu, C-L and Faquin, WC and Deshpande, V and Boutros, PC and Lazar, AJ and Hoadley, KA and Louis, DN and Dursi, LJ and Yung, CK and Bailey, MH and Saksena, G and Raine, KM and Buchhalter, I and Kleinheinz, K and Schlesner, M and Zhang, J and Wang, W and Wheeler, DA and Ding, L and Simpson, JT and O'Connor, BD and Yakneen, S and Ellrott, K and Miyoshi, N and Butler, AP and Royo, R and Shorser, S and Vazquez, M and Rausch, T and Tiao, G and Waszak, SM and Rodriguez-Martin, B and Shringarpure, S and Wu, D-Y and Demidov, GM and Delaneau, O and Hayashi, S and Imoto, S and Habermann, N and Segre, A and Garrison, E and Cafferkey, A and Alvarez, EG and Maria, Heredia-Genestar J and Muyas, F and Drechsel, O and Bruzos, AL and Temes, J and Zamora, J and Baez-Ortega, A and Kim, H-L and Mashl, RJ and Ye},
doi = {10.1038/s41586-020-1969-6},
journal = {Nature},
pages = {82--93},
title = {Pan-cancer analysis of whole genomes},
url = {http://dx.doi.org/10.1038/s41586-020-1969-6},
volume = {578},
year = {2020}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1,2,3. 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 promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10,11,12,13,14,15,16,17,18.
AU  - Campbell,PJ
AU  - Getz,G
AU  - Korbel,JO
AU  - Stuart,JM
AU  - Jennings,JL
AU  - Stein,LD
AU  - Perry,MD
AU  - Nahal-Bose,HK
AU  - Ouellette,BFF
AU  - Li,CH
AU  - Rheinbay,E
AU  - Nielsen,GP
AU  - Sgroi,DC
AU  - Wu,C-L
AU  - Faquin,WC
AU  - Deshpande,V
AU  - Boutros,PC
AU  - Lazar,AJ
AU  - Hoadley,KA
AU  - Louis,DN
AU  - Dursi,LJ
AU  - Yung,CK
AU  - Bailey,MH
AU  - Saksena,G
AU  - Raine,KM
AU  - Buchhalter,I
AU  - Kleinheinz,K
AU  - Schlesner,M
AU  - Zhang,J
AU  - Wang,W
AU  - Wheeler,DA
AU  - Ding,L
AU  - Simpson,JT
AU  - O'Connor,BD
AU  - Yakneen,S
AU  - Ellrott,K
AU  - Miyoshi,N
AU  - Butler,AP
AU  - Royo,R
AU  - Shorser,S
AU  - Vazquez,M
AU  - Rausch,T
AU  - Tiao,G
AU  - Waszak,SM
AU  - Rodriguez-Martin,B
AU  - Shringarpure,S
AU  - Wu,D-Y
AU  - Demidov,GM
AU  - Delaneau,O
AU  - Hayashi,S
AU  - Imoto,S
AU  - Habermann,N
AU  - Segre,A
AU  - Garrison,E
AU  - Cafferkey,A
AU  - Alvarez,EG
AU  - Maria,Heredia-Genestar J
AU  - Muyas,F
AU  - Drechsel,O
AU  - Bruzos,AL
AU  - Temes,J
AU  - Zamora,J
AU  - Baez-Ortega,A
AU  - Kim,H-L
AU  - Mashl,RJ
AU  - Ye,K
AU  - DiBiase,A
AU  - Huang,K-L
AU  - Letunic,I
AU  - McLellan,MD
AU  - Newhouse,SJ
AU  - Shmaya,T
AU  - Kumar,S
AU  - Wedge,DC
AU  - Wright,MH
AU  - Yellapantula,VD
AU  - Gerstein,M
AU  - Khurana,E
AU  - Marques-Bonet,T
AU  - Navarro,A
AU  - Bustamante,CD
AU  - Siebert,R
AU  - Nakagawa,H
AU  - Easton,DF
AU  - Ossowski,S
AU  - Tubio,JMC
AU  - De,La Vega FM
AU  - Estivill,X
AU  - Yuen,D
AU  - Mihaiescu,GL
AU  - Omberg,L
AU  - Ferretti,V
AU  - Sabarinathan,R
AU  - Pich,O
AU  - Gonzalez-Perez,A
AU  - Weiner,AT
AU  - Fittall,MW
AU  - Demeulemeester,J
AU  - Tarabichi,M
AU  - Roberts,ND
AU  - Van,Loo P
AU  - Cortes-Ciriano,I
AU  - Urban,L
AU  - Park,P
AU  - Bin,Z
AU  - Pitkaenen,E
AU  - Li,Y
AU  - Saini,N
AU  - Klimczak,LJ
AU  - Weischenfeldt,J
AU  - Sidiropoulos,N
AU  - Alexandrov,LB
AU  - Rabionet,R
AU  - Escaramis,G
AU  - Bosio,M
AU  - Holik,AZ
AU  - Susak,H
AU  - Prasad,A
AU  - Erkek,S
AU  - Calabrese,C
AU  - Raeder,B
AU  - Harrington,E
AU  - Mayes,S
AU  - Turner,D
AU  - Juul,S
AU  - Roberts,SA
AU  - Song,L
AU  - Koster,R
AU  - Mirabello,L
AU  - Hua,X
AU  - Tanskanen,TJ
AU  - Tojo,M
AU  - Chen,J
AU  - Aaltonen,LA
AU  - Ratsch,G
AU  - Schwarz,RF
AU  - Butte,AJ
AU  - Brazma,A
AU  - Chanock,SJ
AU  - Chatterjee,N
AU  - Stegle,O
AU  - Harismendy,O
AU  - Bova,GS
AU  - Gordenin,DA
AU  - Haan,D
AU  - Sieverling,L
AU  - Feuerbach,L
AU  - Chalmers,D
AU  - Joly,Y
AU  - Knoppers,B
AU  - Molnar-Gabor,F
AU  - Phillips,M
AU  - Thorogood,A
AU  - Townend,D
AU  - Goldman,M
AU  - Fonseca,NA
AU  - Xiang,Q
AU  - Craft,B
AU  - Pineiro-Yanez,E
AU  - Munoz,A
AU  - Petryszak,R
AU  - Fullgrabe,A
AU  - Al-Shahrour,F
AU  - Keays,M
AU  - Haussler,D
AU  - Weinstein,J
AU  - Huber,W
AU  - Valencia,A
AU  - Papatheodorou,I
AU  - Zhu,J
AU  - Fan,Y
AU  - Torrents,D
AU  - Bieg,M
AU  - Chen,K
AU  - Chong,Z
AU  - Cib
DO  - 10.1038/s41586-020-1969-6
EP  - 93
PY  - 2020///
SN  - 0028-0836
SP  - 82
TI  - Pan-cancer analysis of whole genomes
T2  - Nature
UR  - http://dx.doi.org/10.1038/s41586-020-1969-6
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000529097800007&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://www.nature.com/articles/s41586-020-1969-6
UR  - http://hdl.handle.net/10044/1/82741
VL  - 578
ER  -
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