Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer
作者： Muhammed Murtaza , Sarah-Jane Dawson , Katherine Pogrebniak , Oscar M Rueda , Elena Provenzano
DOI: 10.1038/NCOMMS9760
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摘要: Circulating tumour DNA analysis can be used to track burden and analyse cancer genomes non-invasively but the extent which it represents metastatic heterogeneity is unknown. Here we follow a patient with ER-positive HER2-positive breast receiving two lines of targeted therapy over 3 years. We characterize genomic architecture infer clonal evolution in eight biopsies nine plasma samples collected 1,193 days clinical follow-up using exome amplicon sequencing. Mutation levels reflect hierarchy inferred from sequencing biopsies. Serial changes circulating sub-clonal private mutations correlate different treatment responses between sites. This comparison biopsy single shows that allow real-time sampling multifocal evolution.
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Ali Bashashati, Gavin Ha, Alicia Tone, Jiarui Ding, Leah M Prentice, Andrew Roth, Jamie Rosner, Karey Shumansky, Steve Kalloger, Janine Senz, Winnie Yang, Melissa McConechy, Nataliya Melnyk, Michael Anglesio, Margaret TY Luk, Kane Tse, Thomas Zeng, Richard Moore, Yongjun Zhao, Marco A Marra, Blake Gilks, Stephen Yip, David G Huntsman, Jessica N McAlpine, Sohrab P Shah, None, Distinct evolutionary trajectories of primary high-grade serous ovarian cancers revealed through spatial mutational profiling The Journal of Pathology. ,vol. 231, pp. 21- 34 ,(2013) , 10.1002/PATH.4230
Aaron M Newman, Scott V Bratman, Jacqueline To, Jacob F Wynne, Neville C W Eclov, Leslie A Modlin, Chih Long Liu, Joel W Neal, Heather A Wakelee, Robert E Merritt, Joseph B Shrager, Billy W Loo, Ash A Alizadeh, Maximilian Diehn, An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage Nature Medicine. ,vol. 20, pp. 548- 554 ,(2014) , 10.1038/NM.3519
K. Wang, M. Li, H. Hakonarson, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Research. ,vol. 38, ,(2010) , 10.1093/NAR/GKQ603
Samuel Aparicio, Carlos Caldas, None, The Implications of Clonal Genome Evolution for Cancer Medicine The New England Journal of Medicine. ,vol. 368, pp. 842- 851 ,(2013) , 10.1056/NEJMRA1204892
Andrew Roth, Jaswinder Khattra, Damian Yap, Adrian Wan, Emma Laks, Justina Biele, Gavin Ha, Samuel Aparicio, Alexandre Bouchard-Côté, Sohrab P Shah, None, PyClone: statistical inference of clonal population structure in cancer Nature Methods. ,vol. 11, pp. 396- 398 ,(2014) , 10.1038/NMETH.2883
Katrien Berns, Hugo M. Horlings, Bryan T. Hennessy, Mandy Madiredjo, E. Marielle Hijmans, Karin Beelen, Sabine C. Linn, Ana Maria Gonzalez-Angulo, Katherine Stemke-Hale, Michael Hauptmann, Roderick L. Beijersbergen, Gordon B. Mills, Marc J. van de Vijver, René Bernards, A functional genetic approach identifies the PI3K pathway as a major determinant of trastuzumab resistance in breast cancer. Cancer Cell. ,vol. 12, pp. 395- 402 ,(2007) , 10.1016/J.CCR.2007.08.030
Frank Diehl, Kerstin Schmidt, Michael A Choti, Katharine Romans, Steven Goodman, Meng Li, Katherine Thornton, Nishant Agrawal, Lori Sokoll, Steve A Szabo, Kenneth W Kinzler, Bert Vogelstein, Luis A Diaz Jr, Circulating mutant DNA to assess tumor dynamics Nature Medicine. ,vol. 14, pp. 985- 990 ,(2008) , 10.1038/NM.1789
Peter Eirew, Adi Steif, Jaswinder Khattra, Gavin Ha, Damian Yap, Hossein Farahani, Karen Gelmon, Stephen Chia, Colin Mar, Adrian Wan, Emma Laks, Justina Biele, Karey Shumansky, Jamie Rosner, Andrew McPherson, Cydney Nielsen, Andrew JL Roth, Calvin Lefebvre, Ali Bashashati, Camila de Souza, Celia Siu, Radhouane Aniba, Jazmine Brimhall, Arusha Oloumi, Tomo Osako, Alejandra Bruna, Jose L Sandoval, Teresa Algara, Wendy Greenwood, Kaston Leung, Hongwei Cheng, Hui Xue, Yuzhuo Wang, Dong Lin, Andrew J Mungall, Richard Moore, Yongjun Zhao, Julie Lorette, Long Nguyen, David Huntsman, Connie J Eaves, Carl Hansen, Marco A Marra, Carlos Caldas, Sohrab P Shah, Samuel Aparicio, None, Dynamics of genomic clones in breast cancer patient xenografts at single-cell resolution Nature. ,vol. 518, pp. 422- 426 ,(2015) , 10.1038/NATURE13952
Sohrab P Shah, Andrew Roth, Rodrigo Goya, Arusha Oloumi, Gavin Ha, Yongjun Zhao, Gulisa Turashvili, Jiarui Ding, Kane Tse, Gholamreza Haffari, Ali Bashashati, Leah M Prentice, Jaswinder Khattra, Angela Burleigh, Damian Yap, Virginie Bernard, Andrew McPherson, Karey Shumansky, Anamaria Crisan, Ryan Giuliany, Alireza Heravi-Moussavi, Jamie Rosner, Daniel Lai, Inanc Birol, Richard Varhol, Angela Tam, Noreen Dhalla, Thomas Zeng, Kevin Ma, Simon K Chan, Malachi Griffith, Annie Moradian, S-W Grace Cheng, Gregg B Morin, Peter Watson, Karen Gelmon, Stephen Chia, Suet-Feung Chin, Christina Curtis, Oscar M Rueda, Paul D Pharoah, Sambasivarao Damaraju, John Mackey, Kelly Hoon, Timothy Harkins, Vasisht Tadigotla, Mahvash Sigaroudinia, Philippe Gascard, Thea Tlsty, Joseph F Costello, Irmtraud M Meyer, Connie J Eaves, Wyeth W Wasserman, Steven Jones, David Huntsman, Martin Hirst, Carlos Caldas, Marco A Marra, Samuel Aparicio, None, The clonal and mutational evolution spectrum of primary triple-negative breast cancers Nature. ,vol. 486, pp. 395- 399 ,(2012) , 10.1038/NATURE10933
Muhammed Murtaza, Sarah-Jane Dawson, Dana WY Tsui, Davina Gale, Tim Forshew, Anna M Piskorz, Christine Parkinson, Suet-Feung Chin, Zoya Kingsbury, Alvin SC Wong, Francesco Marass, Sean Humphray, James Hadfield, David Bentley, Tan Min Chin, James D Brenton, Carlos Caldas, Nitzan Rosenfeld, None, Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA Nature. ,vol. 497, pp. 108- 112 ,(2013) , 10.1038/NATURE12065