DNA copy number motifs are strong and independent predictors of survival in breast cancer

作者: Arne V Pladsen , Gro Nilsen , Oscar M Rueda , Miriam R Aure , Ørnulf Borgan

DOI: 10.1038/S42003-020-0884-6

关键词:

摘要: Somatic copy number alterations are a frequent sign of genome instability in cancer. A precise characterization the architecture would reveal underlying mechanisms and provide an instrument for outcome prediction treatment guidance. Here we show that local spatial behavior profiles conveys important information about this architecture. Six filters were defined to characterize regional traits profiles, resulting Copy Aberration Regional Mapping Analysis (CARMA) algorithm was applied tumors four breast cancer cohorts (n = 2919). The derived motifs represent layer complements established molecular classifications score reflecting presence or absence provided highly significant independent prognostic predictor. Results consistent between cohorts. nonsite-specific occurrence detected patterns suggests CARMA captures replication repair defects could have future potential stratification. Pladsen et al. develop (CARMA), derives cancers by integrating several features, predict prognosis stratifications. Their can detect be used personalized medicine.

参考文章(39)
Barbara McClintock, The Stability of Broken Ends of Chromosomes in Zea Mays. Genetics. ,vol. 26, pp. 234- 282 ,(1941)
Christina Curtis, Sohrab P Shah, Suet-Feung Chin, Gulisa Turashvili, Oscar M Rueda, Mark J Dunning, Doug Speed, Andy G Lynch, Shamith Samarajiwa, Yinyin Yuan, Stefan Gräf, Gavin Ha, Gholamreza Haffari, Ali Bashashati, Roslin Russell, Steven McKinney, METABRIC Group Co-chairs Caldas Carlos Aparicio Samuel saparicio@ bccrc. ca 17 18 c, Writing committee Curtis† Christina 15 16 Shah Sohrab P. 17 18 Caldas Carlos Aparicio Samuel saparicio@ bccrc. ca 17 18 e, Steering committee Brenton James D. 15 16 Ellis Ian 19 Huntsman David 17 18 Pinder Sarah 20 Purushotham Arnie 20 Murphy Leigh 21 Caldas Carlos Aparicio Samuel saparicio@ bccrc. ca 17 18 j, British Columbia Cancer Agency Aparicio Samuel saparicio@ bccrc. ca 17 18 b Chia Steven 18 Gelmon Karen 18 Huntsman David 17 18 McKinney Steven 17 18 Speers Caroline 18 Turashvili Gulisa 17 18 Watson Peter 17 18 21, University of Nottingham Ellis Ian 19 Blamey Roger 19 Green Andrew 19 Macmillan Douglas 19 Rakha Emad 19, King’s College London Purushotham Arnie 20 Gillett Cheryl 20 Grigoriadis Anita 20 Pinder Sarah 20 de Rinaldis Emanuele 20 Tutt Andy 20, Manitoba Institute of Cell Biology Murphy Leigh 21 Parisien Michelle 21 Troup Sandra 21, British Columbia Cancer Agency Aparicio Samuel saparicio@ bccrc. ca 17 18 b Turashvili Gulisa 17 18 Bell Lynda 18 Chow Katie 18 Gale Nadia 18 Huntsman David 17 18 Kovalik Maria 18 Ng Ying 18 Prentice Leah 18, British Columbia Cancer Agency Aparicio Samuel saparicio@ bccrc. ca 17 18 b Shah Sohrab P. 17 18 Bashashati Ali 17 Ha Gavin 17 Haffari Gholamreza 17 McKinney Steven 17 18, None, The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups Nature. ,vol. 486, pp. 346- 352 ,(2012) , 10.1038/NATURE10983
P. Van Loo, S. H. Nordgard, O. C. Lingjaerde, H. G. Russnes, I. H. Rye, W. Sun, V. J. Weigman, P. Marynen, A. Zetterberg, B. Naume, C. M. Perou, A.-L. Borresen-Dale, V. N. Kristensen, Allele-specific copy number analysis of tumors Proceedings of the National Academy of Sciences of the United States of America. ,vol. 107, pp. 16910- 16915 ,(2010) , 10.1073/PNAS.1009843107
Gro Nilsen, Knut Liestøl, Peter Van Loo, Hans Kristian Moen Vollan, Marianne B Eide, Oscar M Rueda, Suet-Feung Chin, Roslin Russell, Lars O Baumbusch, Carlos Caldas, Anne-Lise Børresen-Dale, Ole Christian Lingjærde, None, Copynumber: Efficient algorithms for single- and multi-track copy number segmentation BMC Genomics. ,vol. 13, pp. 591- 591 ,(2012) , 10.1186/1471-2164-13-591
Sylvan C. Baca, Davide Prandi, Michael S. Lawrence, Juan Miguel Mosquera, Alessandro Romanel, Yotam Drier, Kyung Park, Naoki Kitabayashi, Theresa Y. MacDonald, Mahmoud Ghandi, Eliezer Van Allen, Gregory V. Kryukov, Andrea Sboner, Jean-Philippe Theurillat, T. David Soong, Elizabeth Nickerson, Daniel Auclair, Ashutosh Tewari, Himisha Beltran, Robert C. Onofrio, Gunther Boysen, Candace Guiducci, Christopher E. Barbieri, Kristian Cibulskis, Andrey Sivachenko, Scott L. Carter, Gordon Saksena, Douglas Voet, Alex H. Ramos, Wendy Winckler, Michelle Cipicchio, Kristin Ardlie, Philip W. Kantoff, Michael F. Berger, Stacey B. Gabriel, Todd R. Golub, Matthew Meyerson, Eric S. Lander, Olivier Elemento, Gad Getz, Francesca Demichelis, Mark A. Rubin, Levi A. Garraway, Punctuated Evolution of Prostate Cancer Genomes Cell. ,vol. 153, pp. 666- 677 ,(2013) , 10.1016/J.CELL.2013.03.021
Miriam Ragle Aure, , Sandra Jernström, Marit Krohn, Hans Kristian Moen Vollan, Eldri U Due, Einar Rødland, Rolf Kåresen, Prahlad Ram, Yiling Lu, Gordon B Mills, Kristine Kleivi Sahlberg, Anne-Lise Børresen-Dale, Ole Christian Lingjærde, Vessela N Kristensen, Integrated analysis reveals microRNA networks coordinately expressed with key proteins in breast cancer Genome Medicine. ,vol. 7, pp. 21- 21 ,(2015) , 10.1186/S13073-015-0135-5
Travis I Zack, Steven E Schumacher, Scott L Carter, Andrew D Cherniack, Gordon Saksena, Barbara Tabak, Michael S Lawrence, Cheng-Zhong Zhang, Jeremiah Wala, Craig H Mermel, Carrie Sougnez, Stacey B Gabriel, Bryan Hernandez, Hui Shen, Peter W Laird, Gad Getz, Matthew Meyerson, Rameen Beroukhim, Pan-cancer patterns of somatic copy number alteration Nature Genetics. ,vol. 45, pp. 1134- 1140 ,(2013) , 10.1038/NG.2760
TIH Project, None, The International HapMap Project Nature. ,vol. 426, pp. 789- 796 ,(2003) , 10.1038/NATURE02168
Charles M. Perou, Therese Sørlie, Michael B. Eisen, Matt van de Rijn, Stefanie S. Jeffrey, Christian A. Rees, Jonathan R. Pollack, Douglas T. Ross, Hilde Johnsen, Lars A. Akslen, Øystein Fluge, Alexander Pergamenschikov, Cheryl Williams, Shirley X. Zhu, Per E. Lønning, Anne-Lise Børresen-Dale, Patrick O. Brown, David Botstein, Molecular portraits of human breast tumours Nature. ,vol. 406, pp. 747- 752 ,(2000) , 10.1038/35021093
Jerome Friedman, Trevor Hastie, Robert Tibshirani, Regularization Paths for Generalized Linear Models via Coordinate Descent Journal of Statistical Software. ,vol. 33, pp. 1- 22 ,(2010) , 10.18637/JSS.V033.I01