Circulating mutant DNA to assess tumor dynamics

Detection and quantification of mutations in the plasma of patients with colorectal tumors

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Emerging molecular markers of cancer

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BEAMing up for detection and quantification of rare sequence variants

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PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

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Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies

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A view on drug resistance in cancer

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Liquid biopsies come of age: Towards implementation of circulating tumour DNA

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Liquid Biopsies: Genotyping Circulating Tumor DNA

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Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer

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Emergence of KRAS mutations and acquired resistance to anti-EGFR therapy in colorectal cancer

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The molecular evolution of acquired resistance to targeted EGFR blockade in colorectal cancers

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Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA

Murtaza, M., Dawson, S.-J., Tsui, D. W. Y., Gale, D., Forshew, T., Piskorz, A. M., Parkinson, C., Chin, S.-F., Kingsbury, Z., Wong, A. S. C., et al. (2013) · Nature · doi:10.1038/nature12065 · Cited by 1,624

Circulating tumor DNA analysis detects minimal residual disease and predicts recurrence in patients with stage II colon cancer

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Genome-wide cell-free DNA fragmentation in patients with cancer

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Liquid biopsy enters the clinic — implementation issues and future challenges

Ignatiadis, M., Sledge, G. W., & Jeffrey, S. S. (2021) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-020-00457-x · Cited by 1,191

Activating ESR1 mutations in hormone-resistant metastatic breast cancer

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Circulating Tumor DNA Analysis Guiding Adjuvant Therapy in Stage II Colon Cancer

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Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Adalsteinsson, V. A., Ha, G., Freeman, S. S., Choudhury, A. D., Stover, D. G., Parsons, H. A., Gydush, G., Reed, S. C., Rotem, D., Rhoades, J., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-00965-y · Cited by 1,051

Circulating tumor DNA analysis in patients with cancer: American Society of Clinical Oncology and College of American Pathologists joint review

Merker, J. D., Oxnard, G. R., Compton, C., Diehn, M., Hurley, P., Lazar, A. J., Lindeman, N., Lockwood, C. M., Rai, A. J., Schilsky, R. L., et al. (2018) · Journal of Clinical Oncology · doi:10.1200/jco.2017.76.8671 · Cited by 959

RNA-Seq of Tumor-Educated Platelets Enables Blood-Based Pan-Cancer, Multiclass, and Molecular Pathway Cancer Diagnostics

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Origins, structures, and functions of circulating DNA in oncology

Thierry, A. R., El Messaoudi, S., Gahan, P. B., Anker, P., & Stroun, M. (2016) · Cancer and Metastasis Reviews · doi:10.1007/s10555-016-9629-x · Cited by 818

Noninvasive Detection of Response and Resistance in EGFR -Mutant Lung Cancer Using Quantitative Next-Generation Genotyping of Cell-Free Plasma DNA

Oxnard, G. R., Paweletz, C. P., Kuang, Y., Mach, S. L., O'Connell, A., Messineo, M. M., Luke, J. J., Butaney, M., Kirschmeier, P., Jackman, D. M., et al. (2014) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-13-2482 · Cited by 786

ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: A report from the ESMO Precision Medicine Working Group

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Presence of Somatic Mutations in Most Early-Stage Pancreatic Intraepithelial Neoplasia

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Role of oncogenic KRAS in the diagnosis, prognosis and treatment of pancreatic cancer

Buscail, L., Bournet, B., & Cordelier, P. (2020) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-019-0245-4 · Cited by 721

Analytical and clinical validation of a digital sequencing panel for quantitative, highly accurate evaluation of cell-free circulating tumor DNA

Lanman, R. B., Mortimer, S. A., Zill, O. A., Sebisanovic, D., Lopez, R., Blau, S., Collisson, E. A., Divers, S. G., Hoon, D. S. B., Kopetz, E. S., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0140712 · Cited by 695

Strategies for Colorectal Cancer Screening

Ladabaum, U., Dominitz, J. A., Kahi, C., & Schoen, R. E. (2020) · Gastroenterology · doi:10.1053/j.gastro.2019.06.043 · Cited by 696

Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA

Thierry, A. R., Mouliere, F., El Messaoudi, S., Mollevi, C., Lopez-Crapez, E., Rolet, F., Gillet, B., Gongora, C., Dechelotte, P., Robert, B., et al. (2014) · Nature Medicine · doi:10.1038/nm.3511 · Cited by 678

Circulating Tumor DNA Analyses as Markers of Recurrence Risk and Benefit of Adjuvant Therapy for Stage III Colon Cancer

Tie, J., Cohen, J. D., Wang, Y., Christie, M., Simons, K., Lee, M., Wong, R., Kosmider, S., Ananda, S., McKendrick, J., et al. (2019) · JAMA Oncology · doi:10.1001/jamaoncol.2019.3616 · Cited by 668

The emerging role of cell-free DNA as a molecular marker for cancer management

Bronkhorst, A. J., Ungerer, V., & Holdenrieder, S. (2019) · Biomolecular Detection and Quantification · doi:10.1016/j.bdq.2019.100087 · Cited by 566

Role of oncogenic KRAS in the prognosis, diagnosis and treatment of colorectal cancer

Zhu, G., Pei, L., Xia, H., Tang, Q., & Bi, F. (2021) · Molecular Cancer · doi:10.1186/s12943-021-01441-4 · Cited by 482

Liquid Biopsies, What We Do Not Know (Yet)

Bardelli, A., & Pantel, K. (2017) · Cancer Cell · doi:10.1016/j.ccell.2017.01.002 · Cited by 482

Systems Biology of Cancer Metastasis

Suhail, Y., Cain, M. P., Vanaja, K., Kurywchak, P. A., Levchenko, A., Kalluri, R., & Kshitiz (2019) · Cell Systems · doi:10.1016/j.cels.2019.07.003 · Cited by 452

Tumor-associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing

Heitzer, E., Ulz, P., Belic, J., Gutschi, S., Quehenberger, F., Fischereder, K., Benezeder, T., Auer, M., Pischler, C., Mannweiler, S., et al. (2013) · Genome Medicine · doi:10.1186/gm434 · Cited by 357

Circulating tumor DNA changes for early monitoring of anti-PD1 immunotherapy: a proof-of-concept study

Cabel, L., Riva, F., Servois, V., Livartowski, A., Daniel, C., Rampanou, A., Lantz, O., Romano, E., Milder, M., Buecher, B., et al. (2017) · Annals of Oncology · doi:10.1093/annonc/mdx212 · Cited by 315

Sensitive digital quantification of DNA methylation in clinical samples

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Cell-free DNA in the blood as a solid tumor biomarker–a critical appraisal of the literature

Jung, K., Fleischhacker, M., & Rabien, A. (2010) · Clinica Chimica Acta · doi:10.1016/j.cca.2010.07.032 · Cited by 337

Detecting Liquid Remnants of Solid Tumors: Circulating Tumor DNA Minimal Residual Disease

Moding, E. J., Nabet, B. Y., Alizadeh, A. A., & Diehn, M. (2021) · Cancer Discovery · doi:10.1158/2159-8290.cd-21-0634 · Cited by 325

Circulating tumour DNA — looking beyond the blood

Tivey, A., Church, M., Rothwell, D., Dive, C., & Cook, N. (2022) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-022-00660-y · Cited by 321

Quantitative Detection of EGFR Mutations in Circulating Tumor DNA Derived from Lung Adenocarcinomas

Taniguchi, K., Uchida, J., Nishino, K., Kumagai, T., Okuyama, T., Okami, J., Higashiyama, M., Kodama, K., Imamura, F., & Kato, K. (2011) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-11-1712 · Cited by 315

Circulating tumor DNA and liquid biopsy: opportunities, challenges, and recent advances in detection technologies

Gorgannezhad, L., Umer, M., Islam, M. N., Nguyen, N.-T., & Shiddiky, M. J. A. (2018) · Lab on a Chip · doi:10.1039/c8lc00100f · Cited by 312

Heterogeneity and clinical significance of ESR1 mutations in ER-positive metastatic breast cancer patients receiving fulvestrant

Spoerke, J. M., Gendreau, S., Walter, K., Qiu, J., Wilson, T. R., Savage, H., Aimi, J., Derynck, M. K., Chen, M., Chan, I. T., et al. (2016) · Nature Communications · doi:10.1038/ncomms11579 · Cited by 309

A Highly Sensitive and Quantitative Test Platform for Detection of NSCLC EGFR Mutations in Urine and Plasma

Reckamp, K. L., Melnikova, V. O., Karlovich, C., Sequist, L. V., Camidge, D. R., Wakelee, H., Perol, M., Oxnard, G. R., Kosco, K., Croucher, P., et al. (2016) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2016.05.035 · Cited by 287

Emergence of Multiple EGFR Extracellular Mutations during Cetuximab Treatment in Colorectal Cancer

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An electrochemical clamp assay for direct, rapid analysis of circulating nucleic acids in serum

Das, J., Ivanov, I., Montermini, L., Rak, J., Sargent, E. H., & Kelley, S. O. (2015) · Nature Chemistry · doi:10.1038/nchem.2270 · Cited by 274

Blockade of EGFR and MEK intercepts heterogeneous mechanisms of acquired resistance to anti-EGFR therapies in colorectal cancer

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Role of Saliva and Salivary Diagnostics in the Advancement of Oral Health

Dawes, C., & Wong, D. T. W. (2019) · Journal of Dental Research · doi:10.1177/0022034518816961 · Cited by 218

Noninvasive diagnosis of actionable mutations by deep sequencing of circulating free DNA in lung cancer from never-smokers: a proof-of-concept study from BioCAST/IFCT-1002

Couraud, S., Vaca-Paniagua, F., Villar, S., Oliver, J., Schuster, T., Blanché, H., Girard, N., Trédaniel, J., Guilleminault, L., Gervais, R., et al. (2014) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-13-3063 · Cited by 215

Levels of plasma circulating cell free nuclear and mitochondrial DNA as potential biomarkers for breast tumors

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Liquid biopsy for infectious diseases: sequencing of cell-free plasma to detect pathogen DNA in patients with invasive fungal disease

Hong, D. K., Blauwkamp, T. A., Kertesz, M., Bercovici, S., Truong, C., & Banaei, N. (2018) · Diagnostic Microbiology and Infectious Disease · doi:10.1016/j.diagmicrobio.2018.06.009 · Cited by 201

Detection of Solid Tumor Molecular Residual Disease (MRD) Using Circulating Tumor DNA (ctDNA)

Chin, R.-I., Chen, K., Usmani, A., Chua, C., Harris, P. K., Binkley, M. S., Azad, T. D., Dudley, J. C., & Chaudhuri, A. A. (2019) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-019-00390-5 · Cited by 191

Liquid biopsy in central nervous system metastases: a RANO review and proposals for clinical applications

Boire, A., Brandsma, D., Brastianos, P. K., Le Rhun, E., Ahluwalia, M., Junck, L., Glantz, M., Groves, M. D., Lee, E. Q., Lin, N., et al. (2019) · Neuro-Oncology · doi:10.1093/neuonc/noz012 · Cited by 183

Early plasma circulating tumor DNA (ctDNA) changes predict response to first-line pembrolizumab-based therapy in non–small cell lung cancer (NSCLC)

Ricciuti, B., Jones, G., Severgnini, M., Alessi, J. V., Recondo, G., Lawrence, M., Forshew, T., Lydon, C., Nishino, M., Cheng, M., et al. (2021) · Journal for ImmunoTherapy of Cancer · doi:10.1136/jitc-2020-001504 · Cited by 161

Circulating Tumor DNA and Minimal Residual Disease (MRD) in Solid Tumors: Current Horizons and Future Perspectives

Peng, Y., Mei, W., Ma, K., & Zeng, C. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.763790 · Cited by 167

Minimal residual disease as a target for liquid biopsy in patients with solid tumours

Pantel, K., & Alix-Panabières, C. (2025) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-024-00967-y · Cited by 146

Bridging biological cfDNA features and machine learning approaches

Moser, T., Kühberger, S., Lazzeri, I., Vlachos, G., & Heitzer, E. (2023) · Trends in Genetics · doi:10.1016/j.tig.2023.01.004 · Cited by 133

Liquid biopsy approaches to capture tumor evolution and clinical outcomes during cancer immunotherapy

Sivapalan, L., Murray, J. C., Canzoniero, J. V., Landon, B., Jackson, J., Scott, S., Lam, V., Levy, B. P., Sausen, M., & Anagnostou, V. (2023) · Journal for ImmunoTherapy of Cancer · doi:10.1136/jitc-2022-005924 · Cited by 122

Next-generation sequencing in cancer diagnosis and treatment: clinical applications and future directions

Ghoreyshi, N., Heidari, R., Farhadi, A., Chamanara, M., Farahani, N., Vahidi, M., & Behroozi, J. (2025) · Discover Oncology · doi:10.1007/s12672-025-01816-9 · Cited by 91

Liquid biopsy for cancer: review and implications for the radiologist

Underwood, J. J., Quadri, R. S., Kalva, S. P., Shah, H., Sanjeeviah, A. R., Beg, M. S., & Sutphin, P. D. (2020) · Radiology · doi:10.1148/radiol.2019182584 · Cited by 87

A phase Ib dose-escalation study of the MEK inhibitor trametinib in combination with the PI3K/mTOR inhibitor GSK2126458 in patients with advanced solid tumors

Grilley-Olson, J. E., Bedard, P. L., Fasolo, A., Cornfeld, M., Cartee, L., Razak, A. R. A., Stayner, L.-A., Wu, Y., Greenwood, R., Singh, R., et al. (2016) · Investigational New Drugs · doi:10.1007/s10637-016-0377-0 · Cited by 81

Biopsy-free circulating tumor DNA assay identifies actionable mutations in lung cancer

Villaflor, V., Won, B., Nagy, R., Banks, K., Lanman, R. B., Talasaz, A., & Salgia, R. (2016) · Oncotarget · doi:10.18632/oncotarget.11801 · Cited by 75

Assessment of circulating tumor DNA in pediatric solid tumors: The promise of liquid biopsies

Abbou, S. D., Shulman, D. S., DuBois, S. G., & Crompton, B. D. (2019) · Pediatric Blood & Cancer · doi:10.1002/pbc.27595 · Cited by 72

Comparison of tumor-informed and tumor-naïve sequencing assays for ctDNA detection in breast cancer

Santonja, A., Cooper, W. N., Eldridge, M. D., Edwards, P. A. W., Morris, J. A., Edwards, A. R., Zhao, H., Heider, K., Couturier, D., Vijayaraghavan, A., et al. (2023) · EMBO Molecular Medicine · doi:10.15252/emmm.202216505 · Cited by 66

Genome Sequencing during a Patient’s Journey through Cancer

Nangalia, J., & Campbell, P. J. (2019) · New England Journal of Medicine · doi:10.1056/nejmra1910138 · Cited by 66

Detection of circulating tumor DNA in patients with osteosarcoma

Barris, D. M., Weiner, S. B., Dubin, R. A., Fremed, M., Zhang, X., Piperdi, S., Zhang, W., Maqbool, S., Gill, J., Roth, M., et al. (2018) · Oncotarget · doi:10.18632/oncotarget.24268 · Cited by 63

Cell-free DNA (cfDNA) and Exosome Profiling from a Year-Long Human Spaceflight Reveals Circulating Biomarkers

Bezdan, D., Grigorev, K., Meydan, C., Pelissier Vatter, F. A., Cioffi, M., Rao, V., MacKay, M., Nakahira, K., Burnham, P., Afshinnekoo, E., et al. (2020) · iScience · doi:10.1016/j.isci.2020.101844 · Cited by 59

Developing biomarker-specific end points in lung cancer clinical trials

Neal, J. W., Gainor, J. F., & Shaw, A. T. (2015) · Nature Reviews Clinical Oncology · doi:10.1038/nrclinonc.2014.222 · Cited by 51

Network approach in liquidomics landscape

Santini, D., Botticelli, A., Galvano, A., Iuliani, M., Incorvaia, L., Gristina, V., Taffon, C., Foderaro, S., Paccagnella, E., Simonetti, S., et al. (2023) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/s13046-023-02743-9 · Cited by 37

Bintrafusp Alfa, an Anti-PD-L1:TGFβ Trap Fusion Protein, in Patients with ctDNA-positive, Liver-limited Metastatic Colorectal Cancer

Morris, V. K., Overman, M. J., Lam, M., Parseghian, C. M., Johnson, B., Dasari, A., Raghav, K., Kee, B. K., Huey, R., Wolff, R. A., et al. (2022) · Cancer Research Communications · doi:10.1158/2767-9764.crc-22-0194 · Cited by 38

Digital PCR analysis of circulating tumor DNA: A biomarker for chondrosarcoma diagnosis, prognostication, and residual disease detection

Gutteridge, A., Rathbone, V. M., Gibbons, R., Bi, M., Archard, N., Davies, K. E. J., Brown, J., Plagnol, V., Pillay, N., Amary, F., et al. (2017) · Cancer Medicine · doi:10.1002/cam4.1146 · Cited by 38

Plasma ctDNA response is an early marker of treatment effect in advanced NSCLC

Cheng, M. L., Lau, C. J., Milan, M. S. D., Supplee, J. G., Riess, J. W., Bradbury, P. A., Jänne, P. A., Oxnard, G. R., & Paweletz, C. P. (2021) · JCO Precision Oncology · doi:10.1200/po.20.00419 · Cited by 29

Neratinib-Plus-Cetuximab in Quadruple-WT ( KRAS, NRAS, BRAF, PIK3CA ) Metastatic Colorectal Cancer Resistant to Cetuximab or Panitumumab: NSABP FC-7, A Phase Ib Study

Jacobs, S. A., Lee, J. J., George, T. J., Wade, J. L., Stella, P. J., Wang, D., Sama, A. R., Piette, F., Pogue-Geile, K. L., Kim, R. S., et al. (2021) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-20-1831 · Cited by 27

Liquid biopsy: creating opportunities in brain space

Trivedi, R., & Bhat, K. P. (2023) · British Journal of Cancer · doi:10.1038/s41416-023-02446-0 · Cited by 27

Role of tumor-informed personalized circulating tumor DNA assay in informing recurrence in patients with peritoneal metastases from colorectal and high-grade appendix cancer undergoing curative-intent surgery

Dhiman, A., Kothary, V., Witmer, H. D. D., Bregio, C., Sood, D., Ong, C. T., Polite, B., Eng, O. S., Shergill, A., & Turaga, K. K. (2023) · Annals of Surgery · doi:10.1097/sla.0000000000005856 · Cited by 25

Prognostic utility of pre- and postoperative circulating tumor DNA liquid biopsies in patients with peritoneal metastases

Baumgartner, J. M., Riviere, P., Lanman, R. B., Kelly, K. J., Veerapong, J., Lowy, A. M., & Kurzrock, R. (2020) · Annals of Surgical Oncology · doi:10.1245/s10434-020-08331-x · Cited by 25

Circulating Tumor DNA Dynamics Reveal KRAS G12C Mutation Heterogeneity and Response to Treatment with the KRAS G12C Inhibitor Divarasib in Solid Tumors

Choi, Y., Dharia, N. V., Jun, T., Chang, J., Royer-Joo, S., Yau, K. K., Assaf, Z. J., Aimi, J., Sivakumar, S., Montesion, M., et al. (2024) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-24-0255 · Cited by 23

The mutational landscape of spinal chordomas and their sensitive detection using circulating tumor DNA

Mattox, A. K., Yang, B., Douville, C., Lo, S.-F., Sciubba, D., Wolinsky, J. P., Gokaslan, Z. L., Robison, J., Blair, C., Jiao, Y., et al. (2021) · Neuro-Oncology Advances · doi:10.1093/noajnl/vdaa173 · Cited by 21

Genotyping of Circulating Free DNA Enables Monitoring of Tumor Dynamics in Synovial Sarcomas

Eisenhardt, A. E., Brugger, Z., Lausch, U., Kiefer, J., Zeller, J., Runkel, A., Schmid, A., Bronsert, P., Wehrle, J., Leithner, A., et al. (2022) · Cancers · doi:10.3390/cancers14092078 · Cited by 18

Evaluating Circulating Biomarkers for Diagnosis, Prognosis, and Tumor Monitoring in Pediatric Sarcomas: Recent Advances and Future Directions

Maqueda, J. J., De Feo, A., & Scotlandi, K. (2024) · Biomolecules · doi:10.3390/biom14101306 · Cited by 4

Improved Quantification of Circulating Tumor DNA in Translocation‐Associated Myxoid Liposarcoma by Simultaneous Detection of Breakpoints and Single Nucleotide Variants

Schmid, A., Lausch, U., Runkel, A., Kiefer, J., Pauli, T., Boerries, M., Bogner, B., Eisenhardt, S. U., & Braig, D. (2025) · Cancer Medicine · doi:10.1002/cam4.70704 · Cited by 4

Mutant KRAS Suppresses DNA Sensing by Remodeling Membrane Tension to Clear Extracellular Tumor DNA

Cao, D., Zhou, W., Li, Z., Lu, S., Hou, Z., Yu, L., Guan, Y., Wang, G., Liu, Y., Huang, Z., et al. (2026) · Cancer Research · doi:10.1158/0008-5472.can-25-4447