Liquid biopsy: monitoring cancer-genetics in the blood
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Diamantis, A., Magiorkinis, E. & Koutselini, H. Fine-needle aspiration (FNA) biopsy: historical aspects. Folia Histochem. Cytobiol. 47, 191–197 (2009).
Gerlinger, M. et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N. Engl. J. Med. 366, 883–892 (2012).
Robertson, E. G. & Baxter, G. Tumour seeding following percutaneous needle biopsy: the real story! Clin. Radiol. 66, 1007–1014 (2011).
Hompes, D. & Ruers, T. Review: incidence and clinical significance of bevacizumab-related non-surgical and surgical serious adverse events in metastatic colorectal cancer. Eur. J. Surg. Oncol. 37, 737–746 (2011).
Mandel, P. & Metais, P. Les acides nucleiques du plasma sanguin chez l'homme. C. R. Seances Soc. Biol. Fil. 142, 241–243 (1948).
Koffler, D., Agnello, V., Winchester, R. & Kunkel, H. G. The occurrence of single-stranded DNA in the serum of patients with systemic lupus erythematosus and other diseases. J. Clin. Invest. 52, 198–204 (1973).
Diaz, L. A. Jr et al. The molecular evolution of acquired resistance to targeted EGFR blockade in colorectal cancers. Nature 486, 537–540 (2012).
Misale, S. et al. Emergence of KRAS mutations and acquired resistance to anti-EGFR therapy in colorectal cancer. Nature 486, 532–536 (2012).
Chan, K. C. et al. Cancer genome scanning in plasma: detection of tumor-associated copy number aberrations, single-nucleotide variants, and tumoral heterogeneity by massively parallel sequencing. Clin. Chem. 59, 211–224 (2013).
Jung, K., Fleischhacker, M. & Rabien, A. Cell-free DNA in the blood as a solid tumor biomarker--a critical appraisal of the literature. Clin. Chim. Acta 411, 1611–1624 (2010).
Gormally, E., Caboux, E., Vineis, P. & Hainaut, P. Circulating free DNA in plasma or serum as biomarker of carcinogenesis: practical aspects and biological significance. Mutat. Res. 635, 105–117 (2007).
Schwarzenbach, H., Hoon, D. S. & Pantel, K. Cell-free nucleic acids as biomarkers in cancer patients. Nat. Rev. Cancer 11, 426–437 (2011).
Pisetsky, D. S. & Fairhurst, A. M. The origin of extracellular DNA during the clearance of dead and dying cells. Autoimmunity 40, 281–284 (2007).
Mantovani, A., Sozzani, S., Locati, M., Allavena, P. & Sica, A. Macrophage polarization: tumor-associated macrophages as a paradigm for polarized M2 mononuclear phagocytes. Trends Immunol. 23, 549–555 (2002).
Viorritto, I. C., Nikolov, N. P. & Siegel, R. M. Autoimmunity versus tolerance: can dying cells tip the balance? Clin. Immunol. 122, 125–134 (2007).
Stroun, M. & Anker, P. Nucleic acids spontaneously released by living frog auricles. Biochem. J. 128, 100P–101P (1972).
Anker, P., Stroun, M. & Maurice, P. A. Spontaneous release of DNA by human blood lymphocytes as shown in an in vitro system. Cancer Res. 35, 2375–2382 (1975).
Stroun, M., Lyautey, J., Lederrey, C., Olson-Sand, A. & Anker, P. About the possible origin and mechanism of circulating DNA apoptosis and active DNA release. Clin. Chim. Acta 313, 139–142 (2001).
Rogers, J. C., Boldt, D., Kornfeld, S., Skinner, A. & Valeri, C. R. Excretion of deoxyribonucleic acid by lymphocytes stimulated with phytohemagglutinin or antigen. Proc. Natl Acad. Sci. USA 69, 1685–1689 (1972).
Garcia-Olmo, D. C. et al. Cell-free nucleic acids circulating in the plasma of colorectal cancer patients induce the oncogenic transformation of susceptible cultured cells. Cancer Res. 70, 560–567 (2010).
Trejo-Becerril, C. et al. Cancer progression mediated by horizontal gene transfer in an in vivo model. PLoS ONE 7, e52754 (2012).
Zhou, J., Shi, Y. H. & Fan, J. Circulating cell-free nucleic acids: promising biomarkers of hepatocellular carcinoma. Semin. Oncol. 39, 440–448 (2012).
Akca, H. et al. Utility of serum DNA and pyrosequencing for the detection of EGFR mutations in non-small cell lung cancer. Cancer Genet. 206, 73–80 (2013).
Perkins, G. et al. Multi-purpose utility of circulating plasma DNA testing in patients with advanced cancers. PLoS ONE 7, e47020 (2012).
Punnoose, E. A. et al. Evaluation of circulating tumor cells and circulating tumor DNA in non-small cell lung cancer: association with clinical endpoints in a phase II clinical trial of pertuzumab and erlotinib. Clin. Cancer Res. 18, 2391–2401 (2012).
Wang, J. Y. et al. Molecular detection of APC, K-ras, and p53 mutations in the serum of colorectal cancer patients as circulating biomarkers. World J. Surg. 28, 721–726 (2004).
Dawson, S. J. et al. Analysis of circulating tumor DNA to monitor metastatic breast cancer. N. Engl. J. Med. 368, 1199–1209 (2013).
Sorenson, G. D. Detection of mutated KRAS2 sequences as tumor markers in plasma/serum of patients with gastrointestinal cancer. Clin. Cancer Res. 6, 2129–2137 (2000).
Sorenson, G. D. A review of studies on the detection of mutated KRAS2 sequences as tumor markers in plasma/serum of patients with gastrointestinal cancer. Ann. NY Acad. Sci. 906, 13–16 (2000).
Mouliere, F. et al. High fragmentation characterizes tumour-derived circulating DNA. PLoS ONE 6, e23418 (2011).
Thierry, A. R. et al. Origin and quantification of circulating DNA in mice with human colorectal cancer xenografts. Nucleic Acids Res. 38, 6159–6175 (2010).
Frattini, M. et al. Quantitative and qualitative characterization of plasma DNA identifies primary and recurrent colorectal cancer. Cancer Lett. 263, 170–181 (2008).
Chen, X. Q. et al. Microsatellite alterations in plasma DNA of small cell lung cancer patients. Nat. Med. 2, 1033–1035 (1996).
Diehl, F. et al. Detection and quantification of mutations in the plasma of patients with colorectal tumors. Proc. Natl Acad. Sci. USA 102, 16368–16373 (2005).
Leary, R. J. et al. Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing. Sci. Transl. Med. 4, 162ra154 (2012).
Forshew, T. et al. Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA. Sci. Transl. Med. 4, 136ra168 (2012).
Jahr, S. et al. DNA fragments in the blood plasma of cancer patients: quantitations and evidence for their origin from apoptotic and necrotic cells. Cancer Res. 61, 1659–1665 (2001).
Board, R. E. et al. Detection of PIK3CA mutations in circulating free DNA in patients with breast cancer. Breast Cancer Res. Treat. 120, 461–467 (2010).
Mead, R., Duku, M., Bhandari, P. & Cree, I. A. Circulating tumour markers can define patients with normal colons, benign polyps, and cancers. Br. J. Cancer 105, 239–245 (2011).
Higgins, M. J. et al. Detection of tumor PIK3CA status in metastatic breast cancer using peripheral blood. Clin. Cancer Res. 18, 3462–3469 (2012).
Brooks, J. D. Translational genomics: the challenge of developing cancer biomarkers. Genome Res. 22, 183–187 (2012).
Wang, Y. et al. High quality copy number and genotype data from FFPE samples using Molecular Inversion Probe (MIP) microarrays. BMC Med. Genomics 2, 8 (2009).
Srinivasan, M., Sedmak, D. & Jewell, S. Effect of fixatives and tissue processing on the content and integrity of nucleic acids. Am. J. Pathol. 161, 1961–1971 (2002).
Silva, J. M. et al. Persistence of tumor DNA in plasma of breast cancer patients after mastectomy. Ann. Surg. Oncol. 9, 71–76 (2002).
Silva, J. M. et al. Tumor DNA in plasma at diagnosis of breast cancer patients is a valuable predictor of disease-free survival. Clin. Cancer Res. 8, 3761–3766 (2002).
Schwarzenbach, H. et al. Loss of heterozygosity at tumor suppressor genes detectable on fractionated circulating cell-free tumor DNA as indicator of breast cancer progression. Clin. Cancer Res. 18, 5719–5730 (2012).
Frattini, M. et al. Quantitative analysis of plasma DNA in colorectal cancer patients: a novel prognostic tool. Ann. NY Acad. Sci. 1075, 185–190 (2006).
Hamana, K. et al. Monitoring of circulating tumour-associated DNA as a prognostic tool for oral squamous cell carcinoma. Br. J. Cancer 92, 2181–2184 (2005).
Hsieh, J. S. et al. APC, K-ras, and p53 gene mutations in colorectal cancer patients: correlation to clinicopathologic features and postoperative surveillance. Am. Surg. 71, 336–343 (2005).
Kuhlmann, J. D. et al. LOH at 6q and 10q in fractionated circulating DNA of ovarian cancer patients is predictive for tumor cell spread and overall survival. BMC Cancer 12, 325 (2012).
Castells, A. et al. K-ras mutations in DNA extracted from the plasma of patients with pancreatic carcinoma: diagnostic utility and prognostic significance. J. Clin. Oncol. 17, 578–584 (1999).
Yamada, T. et al. Detection of K-ras gene mutations in plasma DNA of patients with pancreatic adenocarcinoma: correlation with clinicopathological features. Clin. Cancer Res. 4, 1527–1532 (1998).
Salazar, R. et al. Gene expression signature to improve prognosis prediction of stage II and III colorectal cancer. J. Clin. Oncol. 29, 17–24 (2011).
Paik, S. et al. A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. N. Engl. J. Med. 351, 2817–2826 (2004).
Maak, M. et al. Independent validation of a prognostic genomic signature (ColoPrint) for patients with stage II colon cancer. Ann. Surg. 257, 1053–1058 (2013).
van 't Veer, L. J. et al. Gene expression profiling predicts clinical outcome of breast cancer. Nature 415, 530–536 (2002).
Nygaard, A. D., Garm Spindler, K. L., Pallisgaard, N., Andersen, R. F. & Jakobsen, A. The prognostic value of KRAS mutated plasma DNA in advanced non-small cell lung cancer. Lung Cancer 79, 312–317 (2013).
Camps, C. et al. The identification of KRAS mutations at codon 12 in plasma DNA is not a prognostic factor in advanced non-small cell lung cancer patients. Lung Cancer 72, 365–369 (2011).
Shinozaki, M. et al. Utility of circulating B-RAF DNA mutation in serum for monitoring melanoma patients receiving biochemotherapy. Clin. Cancer Res. 13, 2068–2074 (2007).
Cohn, S. L. et al. The International Neuroblastoma Risk Group (INRG) classification system: an INRG Task Force report. J. Clin. Oncol. 27, 289–297 (2009).
Brodeur, G. M. Neuroblastoma: biological insights into a clinical enigma. Nat. Rev. Cancer 3, 203–216 (2003).
Yu, A. L. et al. Anti-GD2 antibody with GM-CSF, interleukin-2, and isotretinoin for neuroblastoma. N. Engl. J. Med. 363, 1324–1334 (2010).
Matthay, K. K. et al. Long-term results for children with high-risk neuroblastoma treated on a randomized trial of myeloablative therapy followed by 13-cis-retinoic acid: a children's oncology group study. J. Clin. Oncol. 27, 1007–1013 (2009).
Matthay, K. K. et al. Treatment of high-risk neuroblastoma with intensive chemotherapy, radiotherapy, autologous bone marrow transplantation, and 13-cis-retinoic acid. Children's Cancer Group. N. Engl. J. Med. 341, 1165–1173 (1999).
Ambros, P. F. et al. International consensus for neuroblastoma molecular diagnostics: report from the International Neuroblastoma Risk Group (INRG) Biology Committee. Br. J. Cancer 100, 1471–1482 (2009).
Schneiderman, J. et al. Clinical significance of MYCN amplification and ploidy in favorable-stage neuroblastoma: a report from the Children's Oncology Group. J. Clin. Oncol. 26, 913–918 (2008).
Combaret, V. et al. Influence of neuroblastoma stage on serum-based detection of MYCN amplification. Pediatr. Blood Cancer 53, 329–331 (2009).
Combaret, V. et al. Circulating MYCN DNA as a tumor-specific marker in neuroblastoma patients. Cancer Res. 62, 3646–3648 (2002).
Combaret, V., Bergeron, C., Noguera, R., Iacono, I. & Puisieux, A. Circulating MYCN DNA predicts MYCN-amplification in neuroblastoma. J. Clin. Oncol. 23, 8919–8920 (2005).
Daniotti, M. et al. Detection of mutated BRAFV600E variant in circulating DNA of stage III-IV melanoma patients. Int. J. Cancer 120, 2439–2444 (2007).
Van Cutsem, E., Oliveira, J. & ESMO Guidelines Working Group. Primary colon cancer: ESMO clinical recommendations for diagnosis, adjuvant treatment and follow-up. Ann. Oncol. 20 (Suppl. 4), 49–50 (2009).
Kataja, V., Castiglione, M. & ESMO Guidelines Working Group. Primary breast cancer: ESMO clinical recommendations for diagnosis, treatment and follow-up. Ann. Oncol. 20 (Suppl. 4), 10–14 (2009).
D'Addario, G., Felip, E. & ESMO Guidelines Working Group. Non-small-cell lung cancer: ESMO clinical recommendations for diagnosis, treatment and follow-up. Ann. Oncol. 20 (Suppl. 4), 68–70 (2009).
Jeffery, M., Hickey, B. E. & Hider, P. N. Follow-up strategies for patients treated for non-metastatic colorectal cancer. Cochrane Database of Systematic Reviews 2007, Issue 1. Art. No.: CD002200. http://dx.doi.org/10.1002/14651858.CD002200.pub2 .
Srikantharajah, D., Ghuman, A., Nagendran, M. & Maruthappu, M. Is computed tomography follow-up of patients after lobectomy for non-small cell lung cancer of benefit in terms of survival? Interact. Cardiovasc. Thorac. Surg. 15, 893–898 (2012).
Sozzi, G. et al. Analysis of circulating tumor DNA in plasma at diagnosis and during follow-up of lung cancer patients. Cancer Res. 61, 4675–4678 (2001).
Uhr, J. W. & Pantel, K. Controversies in clinical cancer dormancy. Proc. Natl Acad. Sci. USA 108, 12396–12400 (2011).
Shaw, J. A. et al. Genomic analysis of circulating cell-free DNA infers breast cancer dormancy. Genome Res. 22, 220–231 (2012).
Tsumita, T. & Iwanaga, M. Fate of injected deoxyribonucleic acid in mice. Nature 198, 1088–1089 (1963).
Jiao, L. et al. K-ras mutation and p16 and preproenkephalin promoter hypermethylation in plasma DNA of pancreatic cancer patients: in relation to cigarette smoking. Pancreas 34, 55–62 (2007).
Magistrelli, P. et al. K-ras mutations in circulating DNA from pancreatic and lung cancers: bridging methodology for a common validation of the molecular diagnosis value. Pancreas 37, 101–102 (2008).
Huang, X. H. et al. Codon 249 mutation in exon 7 of p53 gene in plasma DNA: maybe a new early diagnostic marker of hepatocellular carcinoma in Qidong risk area, China. World J. Gastroenterol. 9, 692–695 (2003).
Bai, H. et al. Influence of chemotherapy on EGFR mutation status among patients with non-small-cell lung cancer. J. Clin. Oncol. 30, 3077–3083 (2012).
Kreso, A. et al. Variable clonal repopulation dynamics influence chemotherapy response in colorectal cancer. Science 339, 543–548 (2013).
di Magliano, M. P. & Logsdon, C. D. Roles for KRAS in pancreatic tumor development and progression. Gastroenterology 144, 1220–1229 (2013).
Powell, S. M. et al. APC mutations occur early during colorectal tumorigenesis. Nature 359, 235–237 (1992).
Nickerson, M. L. et al. Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors. Clin. Cancer Res. 14, 4726–4734 (2008).
Rechsteiner, M. P. et al. VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. Cancer Res. 71, 5500–5511 (2011).
Bardelli, A. et al. Mutational analysis of the tyrosine kinome in colorectal cancers. Science 300, 949 (2003).
National Cancer Institute. The Cancer Genome Atlas [online] , (2013).
International Cancer Genome Consortium. ICGC Cancer Genome Projects [online] , (2013).
Allegra, C. J. et al. American Society of Clinical Oncology provisional clinical opinion: testing for KRAS gene mutations in patients with metastatic colorectal carcinoma to predict response to anti-epidermal growth factor receptor monoclonal antibody therapy. J. Clin. Oncol. 27, 2091–2096 (2009).
Shaw, A. T. & Engelman, J. A. ALK in lung cancer: past, present, and future. J. Clin. Oncol. 31, 1105–1111 (2013).
Gonzalez, D. et al. BRAF mutation testing algorithm for vemurafenib treatment in melanoma: recommendations from an expert panel. Br. J. Dermatol. 168, 700–707 (2013).
Simon, R. & Roychowdhury, S. Implementing personalized cancer genomics in clinical trials. Nat. Rev. Drug Discov. 12, 358–369 (2013).
Gevensleben, H. et al. Non-invasive detection of HER2 amplification with plasma DNA digital PCR. Clin. Cancer Res. 19, 3276–3284 (2013).
Shah, S. S. et al. Impact of American Society of Clinical Oncology/College of American Pathologists guideline recommendations on HER2 interpretation in breast cancer. Hum. Pathol. 41, 103–106 (2010).
Bean, J. et al. MET amplification occurs with or without T790M mutations in EGFR mutant lung tumors with acquired resistance to gefitinib or erlotinib. Proc. Natl Acad. Sci. USA 104, 20932–20937 (2007).
Spindler, K. L., Pallisgaard, N., Vogelius, I. & Jakobsen, A. Quantitative cell-free DNA, KRAS, and BRAF mutations in plasma from patients with metastatic colorectal cancer during treatment with cetuximab and irinotecan. Clin. Cancer Res. 18, 1177–1185 (2012).
Spindler, K. L. et al. Phase II trial of temsirolimus alone and in combination with irinotecan for KRAS mutant metastatic colorectal cancer: outcome and results of KRAS mutational analysis in plasma. Acta Oncol. 52, 963–970 (2013).
Weber, B. et al. Complete pathologic response in lung tumors in two patients with metastatic non-small cell lung cancer treated with erlotinib. J. Thorac. Oncol. 6, 1946–1949 (2011).
Martini, M., Vecchione, L., Siena, S., Tejpar, S. & Bardelli, A. Targeted therapies: how personal should we go? Nat. Rev. Clin. Oncol. 9, 87–97 (2011).
Murtaza, M. et al. Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature 497, 108–112 (2013).
Kosaka, T. et al. Analysis of epidermal growth factor receptor gene mutation in patients with non-small cell lung cancer and acquired resistance to gefitinib. Clin. Cancer Res. 12, 5764–5769 (2006).
Balak, M. N. et al. Novel D761Y and common secondary T790M mutations in epidermal growth factor receptor-mutant lung adenocarcinomas with acquired resistance to kinase inhibitors. Clin. Cancer Res. 12, 6494–6501 (2006).
Zhang, Z. et al. Activation of the AXL kinase causes resistance to EGFR-targeted therapy in lung cancer. Nat. Genet. 44, 852–860 (2012).
Pao, W. et al. Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain. PLoS Med. 2, e73 (2005).
Kobayashi, S. et al. EGFR mutation and resistance of non-small-cell lung cancer to gefitinib. N. Engl. J. Med. 352, 786–792 (2005).
Nakamura, T. et al. Application of a highly sensitive detection system for epidermal growth factor receptor mutations in plasma DNA. J. Thorac. Oncol. 7, 1369–1381 (2012).
Taniguchi, K. et al. Quantitative detection of EGFR mutations in circulating tumor DNA derived from lung adenocarcinomas. Clin. Cancer Res. 17, 7808–7815 (2011).
Yun, C. H. et al. The T790M mutation in EGFR kinase causes drug resistance by increasing the affinity for ATP. Proc. Natl Acad. Sci. USA 105, 2070–2075 (2008).
Zhou, W. et al. Novel mutant-selective EGFR kinase inhibitors against EGFR T790M. Nature 462, 1070–1074 (2009).
Li, D. et al. BIBW2992, an irreversible EGFR/HER2 inhibitor highly effective in preclinical lung cancer models. Oncogene 27, 4702–4711 (2008).
Engelman, J. A. et al. PF00299804, an irreversible pan-ERBB inhibitor, is effective in lung cancer models with EGFR and ERBB2 mutations that are resistant to gefitinib. Cancer Res. 67, 11924–11932 (2007).
Cortot, A. B. et al. Resistance to irreversible EGF receptor tyrosine kinase inhibitors through a multistep mechanism involving the IGF1R pathway. Cancer Res. 73, 834–843 (2013).
Brevet, M., Johnson, M. L., Azzoli, C. G. & Ladanyi, M. Detection of EGFR mutations in plasma DNA from lung cancer patients by mass spectrometry genotyping is predictive of tumor EGFR status and response to EGFR inhibitors. Lung Cancer 73, 96–102 (2011).
Yung, T. K. et al. Single-molecule detection of epidermal growth factor receptor mutations in plasma by microfluidics digital PCR in non-small cell lung cancer patients. Clin. Cancer Res. 15, 2076–2084 (2009).
Johannessen, C. M. et al. COT drives resistance to RAF inhibition through MAP kinase pathway reactivation. Nature 468, 968–972 (2010).
Villanueva, J. et al. Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K. Cancer Cell 18, 683–695 (2010).
Poulikakos, P. I. et al. RAF inhibitor resistance is mediated by dimerization of aberrantly spliced BRAFV600E. Nature 480, 387–390 (2011).
Shi, H. et al. Melanoma whole-exome sequencing identifies (V600E)B-RAF amplification-mediated acquired B-RAF inhibitor resistance. Nat. Commun. 3, 724 (2012).
Nazarian, R. et al. Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. Nature 468, 973–977 (2010).
Page, K. et al. Detection of HER2 amplification in circulating free DNA in patients with breast cancer. Br. J. Cancer 104, 1342–1348 (2011).
Flaherty, K. T. et al. Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. N. Engl. J. Med. 367, 1694–1703 (2012).
Das Thakur, M. et al. Modelling vemurafenib resistance in melanoma reveals a strategy to forestall drug resistance. Nature 494, 251–255 (2013).
Wagle, N. et al. Dissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling. J. Clin. Oncol. 29, 3085–3096 (2011).
Nagalingam, A. et al. Med1 plays a critical role in the development of tamoxifen resistance. Carcinogenesis 33, 918–930 (2012).
Cui, J. et al. Cross-talk between HER2 and MED1 regulates tamoxifen resistance of human breast cancer cells. Cancer Res. 72, 5625–5634 (2012).
Isakoff, S. J. et al. Breast cancer-associated PIK3CA mutations are oncogenic in mammary epithelial cells. Cancer Res. 65, 10992–11000 (2005).
Knudsen, E. S. & Knudsen, K. E. Tailoring to RB: tumour suppressor status and therapeutic response. Nat. Rev. Cancer 8, 714–724 (2008).
Wu, C. C., Yu, C. T., Chang, G. C., Lai, J. M. & Hsu, S. L. Aurora-A promotes gefitinib resistance via a NF-κB signaling pathway in p53 knockdown lung cancer cells. Biochem. Biophys. Res. Commun. 405, 168–172 (2011).
Sequist, L. V. et al. Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors. Sci. Transl. Med. 3, 75ra26 (2011).
Watanabe, S. et al. Clinical responses to EGFR-tyrosine kinase inhibitor retreatment in non-small cell lung cancer patients who benefited from prior effective gefitinib therapy: a retrospective analysis. BMC Cancer 11, 1 (2011).
Turke, A. B. et al. Preexistence and clonal selection of MET amplification in EGFR mutant NSCLC. Cancer Cell 17, 77–88 (2010).
Board, R. E. et al. Isolation and extraction of circulating tumor DNA from patients with small cell lung cancer. Ann. NY Acad. Sci. 1137, 98–107 (2008).
Chen, X. et al. Detecting tumor-related alterations in plasma or serum DNA of patients diagnosed with breast cancer. Clin. Cancer Res. 5, 2297–2303 (1999).
Wang, M., Block, T. M., Steel, L., Brenner, D. E. & Su, Y. H. Preferential isolation of fragmented DNA enhances the detection of circulating mutated k-ras DNA. Clin. Chem. 50, 211–213 (2004).
Page, K. et al. The importance of careful blood processing in isolation of cell-free DNA. Ann. NY Acad. Sci. 1075, 313–317 (2006).
Guadalajara, H. et al. The concentration of deoxyribonucleic acid in plasma from 73 patients with colorectal cancer and apparent clinical correlations. Cancer Detect. Prev. 32, 39–44 (2008).
Thijssen, M. A., Swinkels, D. W., Ruers, T. J. & de Kok, J. B. Difference between free circulating plasma and serum DNA in patients with colorectal liver metastases. Anticancer Res. 22, 421–425 (2002).
Andersen, R. F., Spindler, K. G., Jakobsen, A., Pallisgaard, N. Plasma is superior to serum for cfDNA mutation detection and monitoring [abstract 479]. Eur. J. Cancer 48 (Suppl. 6), 148–149 (2012).
Morgan, S. R. et al. Comparison of KRAS mutation assessment in tumor DNA and circulating free DNA in plasma and serum samples. Clin. Med. Insights Pathol. 5, 15–22 (2012).
Müller, I. et al. Identification of loss of heterozygosity on circulating free DNA in peripheral blood of prostate cancer patients: potential and technical improvements. Clin. Chem. 54, 688–696 (2008).
Liu, P. et al. Potential clinical significance of plasma-based KRAS mutation analysis using the COLD-PCR/TaqMan®–MGB probe genotyping method. Exp. Ther. Med. 4, 109–112 (2012).
Chen, Z. et al. Analysis of cancer mutation signatures in blood by a novel ultra-sensitive assay: monitoring of therapy or recurrence in non-metastatic breast cancer. PLoS ONE 4, e7220 (2009).
Heitzer, E. et al. Tumor associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing. Genome Med. 5, 30 (2013).
Li, C. N. et al. Cell-free DNA is released from tumor cells upon cell death: a study of tissue cultures of tumor cell lines. J. Clin. Lab. Anal. 17, 103–107 (2003).
Haas, J., Katus, H. A. & Meder, B. Next-generation sequencing entering the clinical arena. Mol. Cell. Probes 25, 206–211 (2011).
Santarpia, L. et al. Mutation profiling identifies numerous rare drug targets and distinct mutation patterns in different clinical subtypes of breast cancers. Breast Cancer Res. Treat. 134, 333–343 (2012).
Press, M. F. et al. Diagnostic evaluation of HER-2 as a molecular target: an assessment of accuracy and reproducibility of laboratory testing in large, prospective, randomized clinical trials. Clin. Cancer Res. 11, 6598–6607 (2005).
McBride, D. J. et al. Use of cancer-specific genomic rearrangements to quantify disease burden in plasma from patients with solid tumors. Genes Chromosomes Cancer 49, 1062–1069 (2010).
Tamborini, E. et al. Functional analyses and molecular modeling of two c-Kit mutations responsible for imatinib secondary resistance in GIST patients. Oncogene 25, 6140–6146 (2006).
Choi, Y. L. et al. EML4-ALK mutations in lung cancer that confer resistance to ALK inhibitors. N. Engl. J. Med. 363, 1734–1739 (2010).
Kakimoto, Y., Yamamoto, N. & Shibahara, T. Microsatellite analysis of serum DNA in patients with oral squamous cell carcinoma. Oncol. Rep. 20, 1195–1200 (2008).