Patterns of somatic structural variation in human cancer genomes
Creators: name: Li, Yilong
name: Roberts, Nicola D
name: Wala, Jeremiah A
name: Shapira, Ofer
name: Schumacher, Steven E
name: Kumar, Kiran
name: Khurana, Ekta
name: Waszak, Sebastian
name: Korbel, Jan O
name: Haber, James E
name: Imielinski, Marcin
name: Akdemir, Kadir C
name: Alvarez, Eva G
name: Baez-Ortega, Adrian
name: Beroukhim, Rameen
name: Boutros, Paul C
name: Bowtell, David DL
name: Brors, Benedikt
name: Burns, Kathleen H
name: Campbell, Peter J
name: Chan, Kin
name: Chen, Ken
name: Cortés-Ciriano, Isidro
name: Dueso-Barroso, Ana
name: Dunford, Andrew J
name: Edwards, Paul A
name: Estivill, Xavier
name: Etemadmoghadam, Dariush
name: Feuerbach, Lars
name: Fink, J Lynn
name: Frenkel-Morgenstern, Milana
name: Garsed, Dale W
name: Gerstein, Mark
name: Gordenin, Dmitry A
name: Haan, David
name: Hess, Julian M
name: Hutter, Barbara
name: Jones, David TW
name: Ju, Young Seok
name: Kazanov, Marat D
name: Klimczak, Leszek J
name: Koh, Youngil
name: Lee, Eunjung Alice
name: Lee, Jake June-Koo
name: Lynch, Andy G
name: Macintyre, Geoff
name: Markowetz, Florian
name: Martincorena, Iñigo
name: Martinez-Fundichely, Alexander
name: Meyerson, Matthew
name: Miyano, Satoru
name: Nakagawa, Hidewaki
name: Navarro, Fabio CP
name: Ossowski, Stephan
name: Park, Peter J
name: Pearson, John V
name: Puiggròs, Montserrat
name: Rippe, Karsten
name: Roberts, Steven A
name: Rodriguez-Martin, Bernardo
name: Scully, Ralph
name: Shackleton, Mark
name: Sidiropoulos, Nikos
name: Sieverling, Lina
name: Stewart, Chip
name: Torrents, David
name: MC Tubio, Jose
name: Villasante, Izar
name: Waddell, Nicola
name: Weischenfeldt, Joachim
name: Yang, Lixing
name: Yao, Xiaotong
name: Yoon, Sung-Soo
name: Zamora, Jorge
name: Zhang, Cheng-Zhong
name: Aaltonen, Lauri A
name: Abascal, Federico
name: Abeshouse, Adam
name: Aburatani, Hiroyuki
name: Adams, David J
name: Agrawal, Nishant
name: Ahn, Keun Soo
name: Ahn, Sung-Min
name: Aikata, Hiroshi
name: Akbani, Rehan
name: Al-Ahmadie, Hikmat
name: Al-Sedairy, Sultan T
name: Al-Shahrour, Fatima
name: Alawi, Malik
name: Albert, Monique
name: Aldape, Kenneth
name: Alexandrov, Ludmil B
name: Ally, Adrian
name: Alsop, Kathryn
name: Amary, Fernanda
name: Amin, Samirkumar B
name: Aminou, Brice
name: Ammerpohl, Ole
name: Anderson, Matthew J
name: Ang, Yeng
name: Antonello, Davide
name: Anur, Pavana
name: Aparicio, Samuel
name: Appelbaum, Elizabeth L
name: Arai, Yasuhito
name: Aretz, Axel
name: Arihiro, Koji
name: Ariizumi, Shun-ichi
name: Armenia, Joshua
name: Arnould, Laurent
name: Asa, Sylvia
name: Assenov, Yassen
name: Atwal, Gurnit
name: Aukema, Sietse
name: Auman, J Todd
name: Aure, Miriam RR
name: Awadalla, Philip
name: Aymerich, Marta
name: Bader, Gary D
name: Bailey, Matthew H
name: Bailey, Peter J
name: Balasundaram, Miruna
name: Balu, Saianand
name: Bandopadhayay, Pratiti
name: Banks, Rosamonde E
name: Barbi, Stefano
name: Barbour, Andrew P
name: Barenboim, Jonathan
name: Barnholtz-Sloan, Jill
name: Barr, Hugh
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name: Bartlett, John
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name: Bassi, Claudio
name: Bathe, Oliver F
name: Baumhoer, Daniel
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name: Baylin, Stephen B
name: Bazant, Wojciech
name: Beardsmore, Duncan
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name: Behjati, Sam
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name: Benz, Christopher
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name: Yates, Lucy
name: Yau, Christina
name: Ye, Chen
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name: Yoon, Christopher J
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name: Yu, Jun
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name: Zeps, Nikolajs
name: Zhang, Fan
name: Zhang, Hailei
name: Zhang, Hongwei
name: Zhang, Hongxin
name: Zhang, Jiashan
name: Zhang, Jing
name: Zhang, Junjun
name: Zhang, Xiuqing
name: Zhang, Xuanping
name: Zhang, Yan
name: Zhang, Zemin
name: Zhao, Zhongming
name: Zheng, Liangtao
name: Zheng, Xiuqing
name: Zhou, Wanding
name: Zhou, Yong
name: Zhu, Bin
name: Zhu, Hongtu
name: Zhu, Jingchun
name: Zhu, Shida
name: Zou, Lihua
name: Zou, Xueqing
name: deFazio, Anna
name: van As, Nicholas
name: van Deurzen, Carolien HM
name: van de Vijver, Marc J
name: Veer, L van’t
name: von Mering, Christian
name: Consortium, PCAWG
Publisher: name: The Francis Crick Institute
Year: 2024
Subjects: classificationCode: Tumour Biology
subject: Tumour Biology
classificationCode: Ecology,Evolution & Ethology
subject: Ecology,Evolution &amp; Ethology
classificationCode: Genetics & Genomics
subject: Genetics &amp; Genomics
classificationCode: Computational & Systems Biology
subject: Computational &amp; Systems Biology
classificationCode: Human Biology & Physiology
subject: Human Biology &amp; Physiology
classificationCode: Structural Biology & Biophysics
subject: Structural Biology &amp; Biophysics

description: AbstractA key mutational process in cancer is structural variation, in which rearrangements delete, amplify or reorder genomic segments that range in size from kilobases to whole chromosomes1–7. Here we develop methods to group, classify and describe somatic structural variants, using data from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), which aggregated whole-genome sequencing data from 2,658 cancers across 38 tumour types8. Sixteen signatures of structural variation emerged. Deletions have a multimodal size distribution, assort unevenly across tumour types and patients, are enriched in late-replicating regions and correlate with inversions. Tandem duplications also have a multimodal size distribution, but are enriched in early-replicating regions—as are unbalanced translocations. Replication-based mechanisms of rearrangement generate varied chromosomal structures with low-level copy-number gains and frequent inverted rearrangements. One prominent structure consists of 2–7 templates copied from distinct regions of the genome strung together within one locus. Such cycles of templated insertions correlate with tandem duplications, and—in liver cancer—frequently activate the telomerase gene TERT. A wide variety of rearrangement processes are active in cancer, which generate complex configurations of the genome upon which selection can act.