The causes and consequences of genetic heterogeneity in cancer evolution

被引:1672
作者
Burrell, Rebecca A. [1 ]
McGranahan, Nicholas [1 ,2 ]
Bartek, Jiri [3 ,4 ]
Swanton, Charles [1 ,5 ]
机构
[1] Canc Res UK London Res Inst, Translat Canc Therapeut Lab, London WC2A 3LY, England
[2] UCL, Ctr Math & Phys Life Sci & Expt Biol CoMPLEX, London WC1E 6BT, England
[3] Danish Canc Soc, Res Ctr, DK-2100 Copenhagen, Denmark
[4] Palacky Univ, Inst Mol & Translat Med, CZ-77515 Olomouc, Czech Republic
[5] UCL Canc Inst, London WC1E 6BT, England
基金
英国医学研究理事会;
关键词
CHROMOSOME SEGREGATION ERRORS; INTRA-TUMOR HETEROGENEITY; DNA-DAMAGE RESPONSE; MUTATIONAL PROCESSES; CLONAL EVOLUTION; BREAST-CANCER; COLON-CANCER; GENOMIC INSTABILITY; COLORECTAL ADENOMAS; REPLICATION STRESS;
D O I
10.1038/nature12625
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Recent studies have revealed extensive genetic diversity both between and within tumours. This heterogeneity affects key cancer pathways, driving phenotypic variation, and poses a significant challenge to personalized cancer medicine. A major cause of genetic heterogeneity in cancer is genomic instability. This instability leads to an increased mutation rate and can shape the evolution of the cancer genome through a plethora of mechanisms. By understanding these mechanisms we can gain insight into the common pathways of tumour evolution that could support the development of future therapeutic strategies.
引用
收藏
页码:338 / 345
页数:8
相关论文
共 125 条
[21]   Absolute quantification of somatic DNA alterations in human cancer [J].
Carter, Scott L. ;
Cibulskis, Kristian ;
Helman, Elena ;
McKenna, Aaron ;
Shen, Hui ;
Zack, Travis ;
Laird, Peter W. ;
Onofrio, Robert C. ;
Winckler, Wendy ;
Weir, Barbara A. ;
Beroukhim, Rameen ;
Pellman, David ;
Levine, Douglas A. ;
Lander, Eric S. ;
Meyerson, Matthew ;
Getz, Gad .
NATURE BIOTECHNOLOGY, 2012, 30 (05) :413-+
[22]   BLM is required for faithful chromosome segregation and its localization defines a class of ultrafine anaphase bridges [J].
Chan, Kok-Lung ;
North, Phillip S. ;
Hickson, Ian D. .
EMBO JOURNAL, 2007, 26 (14) :3397-3409
[23]   EGFR Mutation Heterogeneity and the Mixed Response to EGFR Tyrosine Kinase Inhibitors of Lung Adenocarcinomas [J].
Chen, Zhi-Yong ;
Zhong, Wen-Zhao ;
Zhang, Xu-Chao ;
Su, Jian ;
Yang, Xue-Ning ;
Chen, Zhi-Hong ;
Yang, Jin-Ji ;
Zhou, Qing ;
Yan, Hong-Hong ;
An, She-Juan ;
Chen, Hua-Jun ;
Jiang, Ben-Yuan ;
Mok, Tony S. ;
Wu, Yi-Long .
ONCOLOGIST, 2012, 17 (07) :978-985
[24]   DNA breaks and chromosome pulverization from errors in mitosis [J].
Crasta, Karen ;
Ganem, Neil J. ;
Dagher, Regina ;
Lantermann, Alexandra B. ;
Ivanova, Elena V. ;
Pan, Yunfeng ;
Nezi, Luigi ;
Protopopov, Alexei ;
Chowdhury, Dipanjan ;
Pellman, David .
NATURE, 2012, 482 (7383) :53-U70
[25]   Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes [J].
Dalgliesh, Gillian L. ;
Furge, Kyle ;
Greenman, Chris ;
Chen, Lina ;
Bignell, Graham ;
Butler, Adam ;
Davies, Helen ;
Edkins, Sarah ;
Hardy, Claire ;
Latimer, Calli ;
Teague, Jon ;
Andrews, Jenny ;
Barthorpe, Syd ;
Beare, Dave ;
Buck, Gemma ;
Campbell, Peter J. ;
Forbes, Simon ;
Jia, Mingming ;
Jones, David ;
Knott, Henry ;
Kok, Chai Yin ;
Lau, King Wai ;
Leroy, Catherine ;
Lin, Meng-Lay ;
McBride, David J. ;
Maddison, Mark ;
Maguire, Simon ;
McLay, Kirsten ;
Menzies, Andrew ;
Mironenko, Tatiana ;
Mulderrig, Lee ;
Mudie, Laura ;
O'Meara, Sarah ;
Pleasance, Erin ;
Rajasingham, Arjunan ;
Shepherd, Rebecca ;
Smith, Raffaella ;
Stebbings, Lucy ;
Stephens, Philip ;
Tang, Gurpreet ;
Tarpey, Patrick S. ;
Turrell, Kelly ;
Dykema, Karl J. ;
Khoo, Sok Kean ;
Petillo, David ;
Wondergem, Bill ;
Anema, John ;
Kahnoski, Richard J. ;
Teh, Bin Tean ;
Stratton, Michael R. .
NATURE, 2010, 463 (7279) :360-363
[26]   Studies of genomic copy number changes in human cancers reveal signatures of DNA replication stress [J].
Dereli-Oez, Ayguel ;
Versini, Gwennaelle ;
Halazonetis, Thanos D. .
MOLECULAR ONCOLOGY, 2011, 5 (04) :308-314
[27]   The molecular evolution of acquired resistance to targeted EGFR blockade in colorectal cancers [J].
Diaz, Luis A., Jr. ;
Williams, Richard T. ;
Wu, Jian ;
Kinde, Isaac ;
Hecht, J. Randolph ;
Berlin, Jordan ;
Allen, Benjamin ;
Bozic, Ivana ;
Reiter, Johannes G. ;
Nowak, Martin A. ;
Kinzler, Kenneth W. ;
Oliner, Kelly S. ;
Vogelstein, Bert .
NATURE, 2012, 486 (7404) :537-540
[28]   Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing [J].
Ding, Li ;
Ley, Timothy J. ;
Larson, David E. ;
Miller, Christopher A. ;
Koboldt, Daniel C. ;
Welch, John S. ;
Ritchey, Julie K. ;
Young, Margaret A. ;
Lamprecht, Tamara ;
McLellan, Michael D. ;
McMichael, Joshua F. ;
Wallis, John W. ;
Lu, Charles ;
Shen, Dong ;
Harris, Christopher C. ;
Dooling, David J. ;
Fulton, Robert S. ;
Fulton, Lucinda L. ;
Chen, Ken ;
Schmidt, Heather ;
Kalicki-Veizer, Joelle ;
Magrini, Vincent J. ;
Cook, Lisa ;
McGrath, Sean D. ;
Vickery, Tammi L. ;
Wendl, Michael C. ;
Heath, Sharon ;
Watson, Mark A. ;
Link, Daniel C. ;
Tomasson, Michael H. ;
Shannon, William D. ;
Payton, Jacqueline E. ;
Kulkarni, Shashikant ;
Westervelt, Peter ;
Walter, Matthew J. ;
Graubert, Timothy A. ;
Mardis, Elaine R. ;
Wilson, Richard K. ;
DiPersio, John F. .
NATURE, 2012, 481 (7382) :506-510
[29]   Genome remodelling in a basal-like breast cancer metastasis and xenograft [J].
Ding, Li ;
Ellis, Matthew J. ;
Li, Shunqiang ;
Larson, David E. ;
Chen, Ken ;
Wallis, Johnw. ;
Harris, Christopher C. ;
McLellan, Michael D. ;
Fulton, Robert S. ;
Fulton, Lucinda L. ;
Abbott, Rachel M. ;
Hoog, Jeremy ;
Dooling, David J. ;
Koboldt, Daniel C. ;
Schmidt, Heather ;
Kalicki, Joelle ;
Zhang, Qunyuan ;
Chen, Lei ;
Lin, Ling ;
Wendl, Michael C. ;
McMichael, Joshua F. ;
Magrini, Vincent J. ;
Cook, Lisa ;
McGrath, Sean D. ;
Vickery, Tammi L. ;
Appelbaum, Elizabeth ;
DeSchryver, Katherine ;
Davies, Sherri ;
Guintoli, Therese ;
Lin, Li ;
Crowder, Robert ;
Tao, Yu ;
Snider, Jacqueline E. ;
Smith, Scott M. ;
Dukes, Adam F. ;
Sanderson, Gabriel E. ;
Pohl, Craig S. ;
Delehaunty, Kim D. ;
Fronick, Catrina C. ;
Pape, Kimberley A. ;
Reed, Jerry S. ;
Robinson, Jody S. ;
Hodges, Jennifer S. ;
Schierding, William ;
Dees, Nathan D. ;
Shen, Dong ;
Locke, Devin P. ;
Wiechert, Madeline E. ;
Eldred, James M. ;
Peck, Josh B. .
NATURE, 2010, 464 (7291) :999-1005
[30]   SPECIFIC UV-INDUCED MUTATION SPECTRUM IN THE P53 GENE OF SKIN TUMORS FROM DNA-REPAIR-DEFICIENT XERODERMA-PIGMENTOSUM PATIENTS [J].
DUMAZ, N ;
DROUGARD, C ;
SARASIN, A ;
DAYAGROSJEAN, L .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (22) :10529-10533