Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer

作者: Sarah-Jane Dawson , Dana WY Tsui , Muhammed Murtaza , Heather Biggs , Oscar M Rueda

DOI: 10.1056/NEJMOA1213261

关键词: Circulating Cell-Free DNACA 15-3MedicineCA15-3Metastatic breast cancerCirculating tumor cellTumor M2-PKBreast cancerNeoplasmCancer researchPathology

摘要: Background The management of metastatic breast cancer requires monitoring the tumor burden to determine response treatment, and improved biomarkers are needed. Biomarkers such as antigen 15-3 (CA 15-3) circulating cells have been widely studied. However, cell-free DNA carrying tumor-specific alterations (circulating DNA) has not extensively investigated or compared with other in cancer. Methods We radiographic imaging tumors assay DNA, CA 15-3, 30 women who were receiving systemic therapy. used targeted whole-genome sequencing identify somatic genomic designed personalized assays quantify serially collected plasma specimens. levels numbers measured at identical time points. Results Circulating was successfully detected 29 (97%) whom identified; 21 27 (78%) 26 (87%), respectively. showed a greater dynamic range, correlation changes burden, than did cells. Among measures tested, provided earliest measure treatment 10 19 (53%). Conclusions This proof-of-concept analysis that is an informative, inherently specific, highly sensitive biomarker (Funded by Cancer Research UK others.)

参考文章(41)
A. Vecchione, A Gelibter, F Bordin, Emilio Bria, L Trasatti, S Lauro, G Lanzetta, Mg Reale, Comparison of CEA, MCA, CA 15-3 and CA 27-29 in follow-up and monitoring therapeutic response in breast cancer patients. Anticancer Research. ,vol. 19, pp. 3511- 3515 ,(1999)
Heidi Schwarzenbach, Dave S. B. Hoon, Klaus Pantel, Cell-free nucleic acids as biomarkers in cancer patients Nature Reviews Cancer. ,vol. 11, pp. 426- 437 ,(2011) , 10.1038/NRC3066
J. Otsuka, T. Okuda, A. Sekizawa, S. Amemiya, H. Saito, T. Okai, M. Kushima, Detection of p53 mutations in the plasma DNA of patients with ovarian cancer. International Journal of Gynecological Cancer. ,vol. 14, pp. 459- 464 ,(2004) , 10.1111/J.1048-891X.2004.014305.X
Philip J Stephens, Patrick S Tarpey, Helen Davies, Peter Van Loo, Chris Greenman, David C Wedge, Serena Nik-Zainal, Sancha Martin, Ignacio Varela, Graham R Bignell, Lucy R Yates, Elli Papaemmanuil, David Beare, Adam Butler, Angela Cheverton, John Gamble, Jonathan Hinton, Mingming Jia, Alagu Jayakumar, David Jones, Calli Latimer, King Wai Lau, Stuart McLaren, David J McBride, Andrew Menzies, Laura Mudie, Keiran Raine, Roland Rad, Michael Spencer Chapman, Jon Teague, Douglas Easton, Anita Langerød, Oslo Breast Cancer Consortium (OSBREAC) Karesen Rolf 34 35 Schlichting Ellen 34 Naume Bjorn 35 36 Sauer Torill 35 37 Ottestad Lars 36, Ming Ta Michael Lee, Chen-Yang Shen, Benita Tan Kiat Tee, Bernice Wong Huimin, Annegien Broeks, Ana Cristina Vargas, Gulisa Turashvili, John Martens, Aquila Fatima, Penelope Miron, Suet-Feung Chin, Gilles Thomas, Sandrine Boyault, Odette Mariani, Sunil R Lakhani, Marc van de Vijver, Laura van ‘t Veer, John Foekens, Christine Desmedt, Christos Sotiriou, Andrew Tutt, Carlos Caldas, Jorge S Reis-Filho, Samuel AJR Aparicio, Anne Vincent Salomon, Anne-Lise Børresen-Dale, Andrea L Richardson, Peter J Campbell, P Andrew Futreal, Michael R Stratton, None, The landscape of cancer genes and mutational processes in breast cancer Nature. ,vol. 486, pp. 400- 404 ,(2012) , 10.1038/NATURE11017
Jacques Ferlay, Hai-Rim Shin, Freddie Bray, David Forman, Colin Mathers, Donald Maxwell Parkin, Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. International Journal of Cancer. ,vol. 127, pp. 2893- 2917 ,(2010) , 10.1002/IJC.25516
P. K. Andersen, R. D. Gill, Cox's Regression Model for Counting Processes: A Large Sample Study Annals of Statistics. ,vol. 10, pp. 1100- 1120 ,(1982) , 10.1214/AOS/1176345976
S. A. Forbes, N. Bindal, S. Bamford, C. Cole, C. Y. Kok, D. Beare, M. Jia, R. Shepherd, K. Leung, A. Menzies, J. W. Teague, P. J. Campbell, M. R. Stratton, P. A. Futreal, COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Research. ,vol. 39, pp. 945- 950 ,(2011) , 10.1093/NAR/GKQ929
Robert J Tibshirani, Bradley Efron, An introduction to the bootstrap ,(1993)
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
E.A. Eisenhauer, P. Therasse, J. Bogaerts, L.H. Schwartz, D. Sargent, R. Ford, J. Dancey, S. Arbuck, S. Gwyther, M. Mooney, L. Rubinstein, L. Shankar, L. Dodd, R. Kaplan, D. Lacombe, J. Verweij, New response evaluation criteria in solid tumours: Revised RECIST guideline (version 1.1) European Journal of Cancer. ,vol. 45, pp. 228- 247 ,(2009) , 10.1016/J.EJCA.2008.10.026