Journal of Clinical Oncology  
Search for:
Limit by:
  Browse by Subject or Issue
Home Search or Browse JCO My JCO Subscriptions Customer Service Site Map

Originally published as JCO Early Release 10.1200/JCO.2012.45.2011 on January 21 2014

Journal of Clinical Oncology, Vol 32, No 6 (February 20), 2014: pp. 579-586
© 2014 American Society of Clinical Oncology.

This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Purchase Article
Right arrow View Shopping Cart
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Email this article to a colleague
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Save to my personal folders
Right arrow Download to citation manager
Right arrowRights & Permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Diaz, L. A.
Right arrow Articles by Bardelli, A.
Right arrow Search for Related Content
Right arrow PubMed Citation
Right arrow Articles by Diaz, L. A., Jr
Right arrow Articles by Bardelli, A.
Social Bookmarking
 Add to CiteULike   Add to Complore   Add to Connotea   Add to Delicious   Add to Digg   Add to Facebook   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?


Liquid Biopsies: Genotyping Circulating Tumor DNA

Luis A. Diaz, Jr, Alberto Bardelli

Luis A. Diaz Jr, Swim Across America Laboratory and Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins University School of Medicine, Baltimore, MD; and Alberto Bardelli, Institute for Cancer Research and Treatment at Candiolo, University of Torino, Candiolo, and the Fondazione Italiana per la Ricerca sul Cancro Institute of Molecular Oncology, Milan, Italy.

Corresponding author: Alberto Bardelli, PhD, Laboratory of Molecular Genetics, Institute for Cancer Research and Treatment, Department of Oncology, University of Torino, Medical School, Str prov 142 Km 3.95, 10060 Candiolo, Torino, Italy; e-mail: a.bardelli{at}

Genotyping tumor tissue in search of somatic genetic alterations for actionable information has become routine practice in clinical oncology. Although these sequence alterations are highly informative, sampling tumor tissue has significant inherent limitations; tumor tissue is a single snapshot in time, is subject to selection bias resulting from tumor heterogeneity, and can be difficult to obtain. Cell-free fragments of DNA are shed into the bloodstream by cells undergoing apoptosis or necrosis, and the load of circulating cell-free DNA (cfDNA) correlates with tumor staging and prognosis. Moreover, recent advances in the sensitivity and accuracy of DNA analysis have allowed for genotyping of cfDNA for somatic genomic alterations found in tumors. The ability to detect and quantify tumor mutations has proven effective in tracking tumor dynamics in real time as well as serving as a liquid biopsy that can be used for a variety of clinical and investigational applications not previously possible.

Supported by the European Union Seventh Framework Programme of the Colon Therapy Research Consortium (Grant No. 259015); by the Associazione Italiana per la Ricerca sul Cancro (AIRC) Investigator Grant No. 12812; by AIRC 2010 Special Program Molecular Clinical Oncology 5 per mille, Project No. 9970; by Fondazione Piemontese per la Ricerca sul Cancro 5 per mille 2010 Ministero della Salute; Ministero dell'Istruzione, dell'Università e della Ricerca (Progetti di Ricerca di Interesse Nazionale), and by Swim Across America.

Authors' disclosures of potential conflicts of interest and author contributions are found at the end of this article.

Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Delicious Delicious   Add to Digg Digg   Add to Facebook Facebook   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?

This article has been cited by other articles:

Home page
Nucleic Acids ResHome page
T. R. Pisanic II, P. Athamanolap, W. Poh, C. Chen, A. Hulbert, M. V. Brock, J. G. Herman, and T.-H. Wang
DREAMing: a simple and ultrasensitive method for assessing intratumor epigenetic heterogeneity directly from liquid biopsies
Nucleic Acids Res., August 24, 2015; (2015) gkv795v1.
[Abstract] [Full Text] [PDF]

Home page
Ann OncolHome page
C. Montagut, G. Siravegna, and A. Bardelli
Liquid biopsies to evaluate early therapeutic response in colorectal cancer
Ann. Onc., August 1, 2015; 26(8): 1525 - 1527.
[Full Text] [PDF]

Home page
EMBO Mol Med.Home page
A. W. Wyatt and M. E. Gleave
Targeting the adaptive molecular landscape of castration-resistant prostate cancer
EMBO Mol Med., July 1, 2015; 7(7): 878 - 894.
[Abstract] [Full Text] [PDF]

Home page
haematolHome page
E. Bohers, P. J. Viailly, S. Dubois, P. Bertrand, C. Maingonnat, S. Mareschal, P. Ruminy, J.-M. Picquenot, C. Bastard, F. Desmots, et al.
Somatic mutations of cell-free circulating DNA detected by next-generation sequencing reflect the genetic changes in both germinal center B-cell-like and activated B-cell-like diffuse large B-cell lymphomas at the time of diagnosis
Haematologica, July 1, 2015; 100(7): e280 - e284.
[Full Text] [PDF]

Home page
Proc. Natl. Acad. Sci. USAHome page
F. Mouliere and N. Rosenfeld
Circulating tumor-derived DNA is shorter than somatic DNA in plasma
PNAS, March 17, 2015; 112(11): 3178 - 3179.
[Full Text] [PDF]

Home page
Clin. Cancer Res.Home page
M. Jamal-Hanjani, S. A. Quezada, J. Larkin, and C. Swanton
Translational Implications of Tumor Heterogeneity
Clin. Cancer Res., March 15, 2015; 21(6): 1258 - 1266.
[Abstract] [Full Text] [PDF]

Home page
Neuro OncolHome page
J. M. Kros, D. M. Mustafa, L. J. M. Dekker, P. A. E. Sillevis Smitt, T. M. Luider, and P.-P. Zheng
Circulating glioma biomarkers
Neuro Oncology, March 1, 2015; 17(3): 343 - 360.
[Abstract] [Full Text] [PDF]

Home page
JCOHome page
T. Kawaguchi, M. Ando, and A. Kubo
Reply to G. Spitzer and M.A. Socinski, F. Zhou et al, and B. Biswas
J. Clin. Oncol., February 10, 2015; 33(5): 526 - 527.
[Full Text] [PDF]

Home page
Cancer Epidemiol. Biomarkers Prev.Home page
M. Qiu, J. Wang, Y. Xu, X. Ding, M. Li, F. Jiang, L. Xu, and R. Yin
Circulating Tumor DNA Is Effective for the Detection of EGFR Mutation in Non-Small Cell Lung Cancer: A Meta-analysis
Cancer Epidemiol. Biomarkers Prev., January 1, 2015; 24(1): 206 - 212.
[Abstract] [Full Text] [PDF]

Home page
Clin. Chem.Home page
E. Schutz, M. R. Akbari, J. Beck, H. Urnovitz, W. W. Zhang, K. Bornemann-Kolatzki, W. M. Mitchell, R. K. Nam, and S. A. Narod
Chromosomal Instability in Cell-Free DNA Is a Serum Biomarker for Prostate Cancer
Clin. Chem., January 1, 2015; 61(1): 239 - 248.
[Abstract] [Full Text] [PDF]

Home page
Ann OncolHome page
C. Yoo, M.- H. Ryu, Y. S. Na, B.- Y. Ryoo, S. R. Park, and Y.- K. Kang
Analysis of serum protein biomarkers, circulating tumor DNA, and dovitinib activity in patients with tyrosine kinase inhibitor-refractory gastrointestinal stromal tumors
Ann. Onc., November 1, 2014; 25(11): 2272 - 2277.
[Abstract] [Full Text] [PDF]

Home page
Cancer Prev ResHome page
M.-A. D. Smit, E. M. Jaffee, and E. R. Lutz
Cancer Immunoprevention--The Next Frontier
Cancer Prevention Research, November 1, 2014; 7(11): 1072 - 1080.
[Abstract] [Full Text] [PDF]

Home page
Ann OncolHome page
F. Rothe, J.- F. Laes, D. Lambrechts, D. Smeets, D. Vincent, M. Maetens, D. Fumagalli, S. Michiels, S. Drisis, C. Moerman, et al.
Plasma circulating tumor DNA as an alternative to metastatic biopsies for mutational analysis in breast cancer
Ann. Onc., October 1, 2014; 25(10): 1959 - 1965.
[Abstract] [Full Text] [PDF]

Home page
Physiol. GenomicsHome page
T. N. Beck, A. J. Chikwem, N. R. Solanki, and E. A. Golemis
Bioinformatic approaches to augment study of epithelial-to-mesenchymal transition in lung cancer
Physiol Genomics, October 1, 2014; 46(19): 699 - 724.
[Abstract] [Full Text] [PDF]

Home page
JNCI J Natl Cancer InstHome page
J. J. Luke, G. R. Oxnard, C. P. Paweletz, D. R. Camidge, J. V. Heymach, D. B. Solit, B. E. Johnson, and for the Cell Free DNA Working Group
Realizing the Potential of Plasma Genotyping in an Age of Genotype-Directed Therapies
J Natl Cancer Inst, August 1, 2014; 106(8): dju214 - dju214.
[Abstract] [Full Text] [PDF]

Home page
Clin. Cancer Res.Home page
W. D. Figg and D. R. Newell
Pharmacologic Biomarkers in the Development of Stratified Cancer Medicine
Clin. Cancer Res., May 15, 2014; 20(10): 2525 - 2529.
[Abstract] [Full Text] [PDF]

Home page
Clin. Cancer Res.Home page
J. F. Gainor, D. L. Longo, and B. A. Chabner
Pharmacodynamic Biomarkers: Falling Short of the Mark?
Clin. Cancer Res., May 15, 2014; 20(10): 2587 - 2594.
[Abstract] [Full Text] [PDF]

 Librarians &
 Rights &
 PDA Services

Copyright © 2014 by the American Society of Clinical Oncology, Online ISSN: 1527-7755. Print ISSN: 0732-183X
Terms and Conditions of Use
  HighWire Press HighWire Press™ assists in the publication of JCO Online