Cited by 701Cancer Genomics and DiagnosticsPrenatal Screening and DiagnosticsBRCA gene mutations in cancer

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Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA

Open access

Lanman, Richard B., Mortimer, Stefanie A., Zill, Oliver A., Sebisanovic, Dragan, Lopez, Rene, Blau, Sibel, Collisson, Eric A., Divers, Stephen G., Hoon, Dave S. B., Kopetz, E. Scott, Lee, Jeeyun, Nikolinakos, Petros G., Baca, Arthur M., Kermani, Bahram G., Eltoukhy, Helmy, Talasaz, AmirAli·2015·PLoS ONE

DOI 10.1371/journal.pone.0140712PMC PMC4608804

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Abstract

Next-generation sequencing of cell-free circulating solid tumor DNA addresses two challenges in contemporary cancer care. First this method of massively parallel and deep sequencing enables assessment of a comprehensive panel of genomic targets from a single sample, and second, it obviates the need for repeat invasive tissue biopsies. Digital Sequencing™ is a novel method for high-quality sequencing of circulating tumor DNA simultaneously across a comprehensive panel of over 50 cancer-related genes with a simple blood test. Here we report the analytic and clinical validation of the gene panel. Analytic sensitivity down to 0.1% mutant allele fraction is demonstrated via serial dilution studies of known samples. Near-perfect analytic specificity (> 99.9999%) enables complete coverage of many genes without the false positives typically seen with traditional sequencing assays at mutant allele frequencies or fractions below 5%. We compared digital sequencing of plasma-derived cell-free DNA to tissue-based sequencing on 165 consecutive matched samples from five outside centers in patients with stage III-IV solid tumor cancers. Clinical sensitivity of plasma-derived NGS was 85.0%, comparable to 80.7% sensitivity for tissue. The assay success rate on 1,000 consecutive samples in clinical practice was 99.8%. Digital sequencing of plasma-derived DNA is indicated in advanced cancer patients to prevent repeated invasive biopsies when the initial biopsy is inadequate, unobtainable for genomic testing, or uninformative, or when the patient's cancer has progressed despite treatment. Its clinical utility is derived from reduction in the costs, complications and delays associated with invasive tissue biopsies for genomic testing.

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Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing
Gerlinger, M., Rowan, A. J., Horswell, S., Larkin, J., Endesfelder, D., Gronroos, E., Martinez, P., Matthews, N., Stewart, A., Tarpey, P., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1113205 · Cited by 7,774 · cited 1×
“different biopsies of the two tumors each typically missed one-third of the nonsynonymous somatic mutations found elsewhere in the tumor despite sequencing to 250-fold coverage [13].”
Background
The Clonal Evolution of Tumor Cell Populations: Acquired genetic lability permits stepwise selection of variant sublines and underlies tumor progression.
Nowell, P. C. (1976) · Science · doi:10.1126/science.959840 · Cited by 6,471 · cited 1×
“Peter Nowell posited almost 40 years ago that “each patient's cancer may require individual specific therapy, and even this may be thwarted by emergence of a genetically variant subline [subclone] resistant to the treatment” [62].”
Background
Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies
Bettegowda, C., Sausen, M., Leary, R. J., Kinde, I., Wang, Y., Agrawal, N., Bartlett, B. R., Wang, H., Luber, B., Alani, R. M., et al. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3007094 · Cited by 5,067
Glucocorticoid-induced thymocyte apoptosis is associated with endogenous endonuclease activation
Wyllie, A. H. (1980) · Nature · doi:10.1038/284555a0 · Cited by 4,495 · cited 1×
“Cell-free circulating tumor DNA consists mainly of 166 base pair double-stranded DNA fragments resulting from apoptosis, necrosis or release of nuclear DNA into the circulation [18,19].”
Background
Accurate whole human genome sequencing using reversible terminator chemistry
Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684 · cited 2×
“The 165 matched plasma and tissue samples were both analyzed on the Illumina Hi-Seq 2500 platform, the cfDNA analyzed using the digital sequencing method described herein and the DNA isolated from tissue samples analyzed using standard prep as per the manufacturer’s instructions [76].”
Method
A collection of breast cancer cell lines for the study of functionally distinct cancer subtypes
Neve, R. M., Chin, K., Fridlyand, J., Yeh, J., Baehner, F. L., Fevr, T., Clark, L., Bayani, N., Coppé, J., Tong, F. K., et al. (2006) · Cancer Cell · doi:10.1016/j.ccr.2006.10.008 · Cited by 3,224
Towards complete and accurate reporting of studies of diagnostic accuracy: The STARD Initiative.
Bossuyt, P. M., Reitsma, J. B., Bruns, D. E., Gatsonis, C. A., Glasziou, P. P., Irwig, L. M., Lijmer, J. G., Moher, D., Rennie, D., de Vet, H. C. W., et al. (2003) · Annals of Internal Medicine · doi:10.7326/0003-4819-138-1-200301070-00010 · Cited by 3,219
Towards complete and accurate reporting of studies of diagnostic accuracy: the STARD initiative
Bossuyt, P. M., Reitsma, J. B., Bruns, D. E., Gatsonis, C. A., Glasziou, P. P., Irwig, L. M., Lijmer, J. G., Moher, D., Rennie, D., & de Vet, H. C. W. (2003) · BMJ · doi:10.1136/bmj.326.7379.41 · Cited by 3,215
Cell-free nucleic acids as biomarkers in cancer patients
Schwarzenbach, H., Hoon, D. S. �., & Pantel, K. (2011) · Nature reviews. Cancer · doi:10.1038/nrc3066 · Cited by 2,897

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Show all 79 references

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Research works printed but not linked: 5

Rosen S. World Market for Cancer Diagnostics, 5th Edition. 2013.
P Mandel, 1948, Les acides nucléiques du plasma sanguin chez l’homme, CR Acad Sci Paris, 142, 241
AmirAli Talasaz, 2014, Non-invasive and sequential profiling of metastatic solid tumors by Digital Sequencing of cell-free DNA [Abstract 3422S], Am Soc Hum Genet Annu Meet
A Drilon, 2015, Broad, hybrid capture-based next-generation sequencing identifies actionable genomic alterations in “driver-negative” lung adenocarcinomas, Clin Cancer Res Off J Am Assoc Cancer Res
Maryke Appel Victoria van Kets, 2014, Kapa Hyper Prep: A next-generation kit for fast and efficient library construction from challenging DNA samples. [Abstract], Adv Genome Biol Technol

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Rolfo, C. D., Manca, P., Salgado, R., van Dam, P. A., Dendooven, A., Gandia, J. F., Rutten, A., Lybaert, W., Vermeij, J., Gevaert, T., et al. (2018) · ESMO Open · doi:10.1136/esmoopen-2018-000398 · Cited by 102
“The methods for ctDNA isolation and sequencing are extensively described elsewhere.(16) Briefly, two blood samples were collected for each patient in 10 mL Streck Cell-Free DNA Blood Collection (Streck) tubes; these tubes, kept in room temperature, ensure high-quality preservation of cell-free (cfDNA) longer (up to 7…”
Method
Genomic approaches to cancer and minimal residual disease detection using circulating tumor DNA
Semenkovich, N. P., Szymanski, J. J., Earland, N. J., Chauhan, P. S., Pellini, B., & Chaudhuri, A. A. (2023) · Journal for ImmunoTherapy of Cancer · doi:10.1136/jitc-2022-006284 · Cited by 111
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“However, the capability of plasma NGS to perform multiplexed detection of a wide range of genomic alterations has led to the development of multiple commercial plasma genotyping assays utilizing NGS platforms (Guardant360 [Guardant Health, Redwood City, CA] and FoundationACT [Foundation Medicine, Cambridge, MA]).(19)”
BackgroundMethod
The Prognostic and Therapeutic Role of Genomic Subtyping by Sequencing Tumor or Cell-Free DNA in Pulmonary Large-Cell Neuroendocrine Carcinoma
Zhuo, M., Guan, Y., Yang, X., Hong, L., Wang, Y., Li, Z., Chen, R., Abbas, H. A., Chang, L., Gong, Y., et al. (2019) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-19-0556 · Cited by 99
“Germline variants were quantitatively excluded as described previously (25).”
Background
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Kasi, P. M., Fehringer, G., Taniguchi, H., Starling, N., Nakamura, Y., Kotani, D., Powles, T. B., Li, B. T., Pusztai, L., Aushev, V. N., et al. (2022) · JCO Precision Oncology · doi:10.1200/po.21.00181 · Cited by 103
“Tie et al(69) Colon cancer stage III Postoperative (4-10 weeks; N = 96); at completion of treatment (n = 88) Safe-SeqS Fifteen CRC genes assessed in tumor; in plasma used the variant with the highest allele frequency (tumor-informed) Median: 51 (9-470) days Median: 28.”
BackgroundMethod
Liquid biopsy utility for the surveillance of cutaneous malignant melanoma patients
Huang, S. K., & Hoon, D. S. �. (2015) · Molecular Oncology · doi:10.1016/j.molonc.2015.12.008 · Cited by 99
“In a pilot study, we analyzed ctDNA in melanoma patients using a novel single-molecule digital sequencing assay (Guardant360, Redwood, CA) that allowed detection of rare genomic alterations with ultra-high sensitivity and specificity (Hoon et al., 2014; Lanman et al., 2015).”
Method
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Donaldson, J. M., & Park, B. H. (2017) · Annual Review of Medicine · doi:10.1146/annurev-med-041316-085721 · Cited by 104
Clinical correlates of blood-derived circulating tumor DNA in pancreatic cancer
Patel, H., Okamura, R., Fanta, P. T., Patel, C., Lanman, R. B., Raymond, V. M., Kato, S., & Kurzrock, R. (2019) · Journal of Hematology & Oncology · doi:10.1186/s13045-019-0824-4 · Cited by 99
“Blood samples were collected in 10ml Streck tubes, and 5 to 30 ng of ctDNA was used for sequencing as previously described [26].”
Method
Neurofibromin Is an Estrogen Receptor-α Transcriptional Co-repressor in Breast Cancer
Zheng, Z.-Y., Anurag, M., Lei, J. T., Cao, J., Singh, P., Peng, J., Kennedy, H., Nguyen, N.-C., Chen, Y., Lavere, P. F., et al. (2020) · Cancer Cell · doi:10.1016/j.ccell.2020.02.003 · Cited by 99
“Conversely, two mutations found in metastatic breast cancer, NF1-R1362Q (Lanman et al., 2015) and NF1-K1444R (Li et al., 2013), were predicted (Wilkins et al., 2012) to inactivate GAP activity (Figure S3H).”
BackgroundMethodInfluential
Assessment of the Clinical Utility of Plasma Metagenomic Next-Generation Sequencing in a Pediatric Hospital Population
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Regorafenib and Nivolumab or Pembrolizumab Combination and Circulating Tumor DNA Response Assessment in Refractory Microsatellite Stable Colorectal Cancer
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A Phase 1/2 Study of Lazertinib 240 mg in Patients With Advanced EGFR T790M-Positive NSCLC After Previous EGFR Tyrosine Kinase Inhibitors
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Circulating Cell Free Tumor DNA Detection as a Routine Tool forLung Cancer Patient Management
Vendrell, J. A., Mau‐Them, F. T., Béganton, B., Godreuil, S., Coopman, P. J., & Solassol, J. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18020264 · Cited by 97
“10% Panel SNV, indels, CNV, rearrangements [49] Bias-Corrected Targeted NGS 0.”
BackgroundMethodInfluential
Platelets, circulating tumor cells, and the circulome
Marie, P. K., Lam, M. S., Menter, D. G., & Kopetz, S. (2017) · Cancer and Metastasis Reviews · doi:10.1007/s10555-017-9681-1 · Cited by 94
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CDK12 -Mutated Prostate Cancer: Clinical Outcomes With Standard Therapies and Immune Checkpoint Blockade
Schweizer, M. T., Ha, G., Gulati, R., Brown, L. C., McKay, R. R., Dorff, T. B., Hoge, A. C. H., Reichel, J. B., Vats, P., Kilari, D., et al. (2020) · JCO Precision Oncology · doi:10.1200/po.19.00383 · Cited by 98
Molecular Analysis of Plasma From Patients With ROS1-Positive NSCLC
Dagogo‐Jack, I., Rooney, M. M., Nagy, R. J., Lin, J. J., Chin, E. N., Ferris, L. A., Ackil, J., Lennerz, J. K., Lanman, R. B., Gainor, J. F., et al. (2019) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2019.01.009 · Cited by 93
“All plasma specimenswere genotypedusing the hybridcapture–based Guardant360 NGS assay as previously described.(13) To detect diverse ROS1 fusions, the Guardant360 assay includes capture probes targeting known fusion partners and reported ROS1 breakpoints.”
Cell-free DNA approaches for cancer early detection and interception
Medina, J. E., Dracopoli, N. C., Bach, P. B., Lau, A., Scharpf, R. B., Meijer, G. A., Andersen, C. L., & Velculescu, V. E. (2023) · Journal for ImmunoTherapy of Cancer · doi:10.1136/jitc-2022-006013 · Cited by 94
“9 12 26 32 34–40 Further refinement of somatic mutation-based approaches to early cancer detection are needed to make these more affordable for implementation on a population scale.”
Background
Liquid Biopsies for Cancer: Coming to a Patient near You
Krishnamurthy, N., Spencer, E. G., Torkamani, A., & Nicholson, L. J. (2017) · Journal of Clinical Medicine · doi:10.3390/jcm6010003 · Cited by 95
“This suggests that ctDNA already complements and might eventually supplant direct biopsy, with >80% sensitivity and 98%–100% specificity achieved in recent reports, and detection techniques improving rapidly [10,11,32].”
Background
Resistance to Avapritinib in PDGFRA-Driven GIST Is Caused by Secondary Mutations in the PDGFRA Kinase Domain
Grünewald, S., Klug, L. R., Mühlenberg, T., Lategahn, J., Falkenhorst, J., Town, A., Ehrt, C., Wardelmann, E., Hartmann, W., Schildhaus, H., et al. (2020) · Cancer Discovery · doi:10.1158/2159-8290.cd-20-0487 · Cited by 94
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“9999% specificity.(44) This method would be useful to find out the different genomic characteristics of the remote lesion which developed from primary lesion without invasive biopsy.”
Method
Next-generation sequencing (NGS) of cell-free circulating tumor DNA and tumor tissue in patients with advanced urothelial cancer: a pilot assessment of concordance
Barata, P. C., Koshkin, V. S., Funchain, P., Sohal, D. P. S., Pritchard, A. L., Klek, S., Adamowicz, T., Gopalakrishnan, D., García, J., Rini, B. I., et al. (2017) · Annals of Oncology · doi:10.1093/annonc/mdx405 · Cited by 89
“0 ng of cfDNA from plasma and analyzed as described previously.(17) Patient demographics were obtained by retrospective review of specimen submissions for both cohorts (Table 1).”
Method
Amplification of Wild-type KRAS Imparts Resistance to Crizotinib in MET Exon 14 Mutant Non–Small Cell Lung Cancer
Bahcall, M., Awad, M. M., Sholl, L. M., Wilson, F. H., Xu, M., Wang, S., Palakurthi, S. S., Choi, J., Ivanova, E. V., Leonardi, G. C., et al. (2018) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-18-0876 · Cited by 93
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“cfDNA isolation and next-generation sequencing cfDNA for the Guardant360 next-generation sequencing panel was isolated at Guardant Health from plasma from patients in the phase I study as previously described (17).”
Method
Hybrid capture-based genomic profiling of circulating tumor DNA from patients with estrogen receptor-positive metastatic breast cancer
Chung, J., Pavlick, D. C., Hartmaier, R. J., Schrock, A. B., Young, L., Forcier, B., Ye, P., Levin, M. K., Goldberg, M. E., Burris, H. A., et al. (2017) · Annals of Oncology · doi:10.1093/annonc/mdx490 · Cited by 86
“Our findings are consistent with NGS studies [using NGS panels or alternative approaches for amplification detection such as low coverage whole genome sequencing (plasma-Seq)] that highlighted the limitations for robust detection of amplifications in the context of low ctDNA fractions [18, 19].”
Result
Cell-free Circulating Tumor DNA Variant Allele Frequency Associates with Survival in Metastatic Cancer
Pairawan, S. S., Hess, K. R., Jankú, F., Sánchez, N., Shaw, K. R. M., Eng, C., Damodaran, S., Javle, M. M., Kaseb, A. O., Hong, D. S., et al. (2019) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-19-0306 · Cited by 85
“The validation of the Guardant360 has previously been published by Lanman and colleagues,Odegaard and colleagues, andZill and colleagues (11, 12, 14).”
Method
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Achour, B., Al‐Majdoub, Z. M., Grybos‐Gajniak, A., Lea, K., Kilford, P. J., Zhang, M., Knight, D., Barber, J., Schageman, J. J., & Rostami‐Hodjegan, A. (2020) · Clinical Pharmacology & Therapeutics · doi:10.1002/cpt.2102 · Cited by 87
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Ikeda, S., Tsigelny, I. F., Skjevik, Å. A., Kono, Y., Mendler, M. H., Kuo, A., Sicklick, J. K., Heestand, G. M., Banks, K. C., Talasaz, A. H., et al. (2018) · The Oncologist · doi:10.1634/theoncologist.2017-0479 · Cited by 82
“(cfDNA) was extracted from plasma and genomic alterations were analyzed as described by Lanman et al [14].”
MethodInfluential
Influence of TP53 Mutation on Survival in Patients With Advanced EGFR-Mutant Non–Small-Cell Lung Cancer
Aggarwal, C., Davis, C. W., Mick, R., Thompson, J. C., Ahmed, S., Jeffries, S., Bagley, S. J., Gabriel, P. E., Evans, T. L., Bauml, J. M., et al. (2018) · JCO Precision Oncology · doi:10.1200/po.18.00107 · Cited by 79
Emergence of EGFR G724S mutation in EGFR-mutant lung adenocarcinoma post progression on osimertinib
Oztan, A., Fischer, S., Schrock, A. B., Erlich, R. L., Lovly, C. M., Stephens, P. J., Ross, J. S., Miller, V., Ali, S. M., Ou, S.-H. I., et al. (2017) · Lung Cancer · doi:10.1016/j.lungcan.2017.07.002 · Cited by 80
Clinical Impact of Hybrid Capture–Based Next-Generation Sequencing on Changes in Treatment Decisions in Lung Cancer
Rozenblum, A. B., Ilouze, M., Dudnik, E., Dvir, A., Soussan‐Gutman, L., Geva, S., & Peled, N. (2016) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2016.10.021 · Cited by 80
FGFR1 Amplification Mediates Endocrine Resistance but Retains TORC Sensitivity in Metastatic Hormone Receptor–Positive (HR+) Breast Cancer
Drago, J. Z., Formisano, L., Juric, D., Niemierko, A., Servetto, A., Wander, S. A., Spring, L. M., Vidula, N., Younger, J., Peppercorn, J. M., et al. (2019) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-19-0138 · Cited by 80
Liquid Biopsy in Lung Cancer: A Perspective From Members of the Pulmonary Pathology Society
Sholl, L. M., Aisner, D. L., Allen, T. C., Beasley, M. B., Cagle, P. T., Capelozzi, V. L., Đačić, S., Hariri, L. P., Kerr, K. M., Lantuéjoul, S., et al. (2016) · Archives of Pathology & Laboratory Medicine · doi:10.5858/arpa.2016-0163-sa · Cited by 79
Circulating tumor markers: harmonizing the yin and yang of CTCs and ctDNA for precision medicine
Batth, I. S., Mitra, A., Manier, S., Ghobrial, I. M., Menter, D. G., Kopetz, S., & Li, S. (2016) · Annals of Oncology · doi:10.1093/annonc/mdw619 · Cited by 79
Are liquid biopsies a surrogate for tissue EGFR testing?
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Molecular Profiling of Hepatocellular Carcinoma Using Circulating Cell-Free DNA
Kaseb, A. O., Sánchez, N., Sen, S., Kelley, R. K., Tan, B. R., Bocobo, A. G., Lim, K., Abdel‐Wahab, R., Uemura, M. I., Pestana, R. C., et al. (2019) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-18-3341 · Cited by 78
“0 as þþþ, representing the 50th to 90th and >90th percentile, respectively of all CNA calls in the Guardant360 database (12, 13, 16).”
BackgroundMethod
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
“Lastly, a multicenter prospective study utilizing the same ctDNA assay [16] employed in the current study in”
BackgroundMethodResultInfluential
MET amplification in metastatic colorectal cancer: an acquired response to EGFR inhibition, not a de novo phenomenon
Raghav, K. P. S., Morris, V. K., Tang, C. Z., Morelli, P., Amin, H. M., Chen, K., Manyam, G. C., Broom, B. M., Overman, M. J., Shaw, K. R. M., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.10559 · Cited by 76
“[19] All testing was performed in CLIA-certified laboratories (Table 1).”
Method
Convergent Therapeutic Strategies to Overcome the Heterogeneity of Acquired Resistance in BRAF V600E Colorectal Cancer
Hazar-Rethinam, M. H., Kleyman, M., Han, G. C., Liu, D., Ahronian, L. G., Shahzade, H. A., Chen, L., Parikh, A. R., Allen, J. N., Clark, J. W., et al. (2018) · Cancer Discovery · doi:10.1158/2159-8290.cd-17-1227 · Cited by 77
Role of the DNA damage response in prostate cancer formation, progression and treatment
Zhang, W., van Gent, D. C., Incrocci, L., van Weerden, W. M., & Nonnekens, J. (2019) · Prostate Cancer and Prostatic Diseases · doi:10.1038/s41391-019-0153-2 · Cited by 79
“actionable genes to select eligible patients [90, 94, 95].”
Comprehensive Genomic Landscape and Precision Therapeutic Approach in Biliary Tract Cancers
Okamura, R., Kurzrock, R., Mallory, R. J., Fanta, P. T., Burgoyne, A. M., Clary, B. M., Kato, S., & Sicklick, J. K. (2020) · International Journal of Cancer · doi:10.1002/ijc.33230 · Cited by 73
“com; panels of 68-73 genes; Table S1) and sequenced cancer-associated genes to identify somatic alterations with high analytic sensitivity and high specificity, as previously described.(15) In this study, only characterized genomic alterations were used for analysis (synonymous alterations or variants of unknown signi…”
Background
Clinical Utility of Cell-free and Circulating Tumor DNA in Kidney and Bladder Cancer: A Critical Review of Current Literature
Green, E. A., Li, R., Albiges, L. K., Choueiri, T. K., Freedman, M. L., Pal, S. K., Dyrskjøt, L., & Kamat, A. M. (2021) · European Urology Oncology · doi:10.1016/j.euo.2021.04.005 · Cited by 73
Prospective Feasibility Study for Using Cell-Free Circulating Tumor DNA–Guided Therapy in Refractory Metastatic Solid Cancers: An Interim Analysis
Kim, S. T., Banks, K. C., Lee, S., Kim, K., Park, J. O., Park, S. H., Park, Y. S., Lim, H. Y., Kang, W. K., Lanman, R. B., et al. (2017) · JCO Precision Oncology · doi:10.1200/po.16.00059 · Cited by 72
The characteristics of ctDNA reveal the high complexity in matching the corresponding tumor tissues
Yang, N., Li, Y., Liu, Z., Qin, H., Du, D., Cao, X., Cao, X., Li, J., Li, D., Jiang, B., et al. (2018) · BMC Cancer · doi:10.1186/s12885-018-4199-7 · Cited by 72
Translational Application of Circulating DNA in Oncology: Review of the Last Decades Achievements
Туаева, Н. О., Falzone, L., Porozov, Y. B., Nosyrev, A. E., Трухан, В. М., Kovatsi, L., Spandidos, D. A., Drakoulis, N., Kalogeraki, A. M., Mamoulakis, C., et al. (2019) · Cells · doi:10.3390/cells8101251 · Cited by 70
“NGS allows the detection of ctDNA changes occurring in the whole genome [70–72], thus providing an opportunity to comprehensively proﬁle tumor-related genetic changes [73,74].”
Hybrid Capture–Based Genomic Profiling of Circulating Tumor DNA from Patients with Advanced Non–Small Cell Lung Cancer
Schrock, A. B., Welsh, A. W., Chung, J., Pavlick, D. C., Bernicker, E., Creelan, B., Forcier, B., Ross, J. S., Stephens, P. J., Ali, S. M., et al. (2018) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2018.10.008 · Cited by 72
Hybrid Capture–Based Genomic Profiling of Circulating Tumor DNA from Patients with Advanced Cancers of the Gastrointestinal Tract or Anus
Schrock, A. B., Pavlick, D. C., Klempner, S. J., Chung, J., Forcier, B., Welsh, A. W., Young, L., Leyland-Jones, B., Bordoni, R. E., Carvajal, R. D., et al. (2018) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-17-3103 · Cited by 71
“This is similar to what has been observed in other ctDNA studies in solid tumors (26, 27).”
Result
A pilot study evaluating concordance between blood-based and patient-matched tumor molecular testing within pancreatic cancer patients participating in the Know Your Tumor (KYT) initiative
Pishvaian, M. J., Bender, R. J., Matrisian, L. M., Rahib, L., Hendifar, A. E., Hoos, W. A., Mikhail, S., Chung, V. M., Picozzi, V. J., Heartwell, C., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.13225 · Cited by 70
Liquid Biopsy to Identify Actionable Genomic Alterations
Ou, S. I., Nagasaka, M., & Zhu, V. W. (2018) · American Society of Clinical Oncology Educational Book · doi:10.1200/edbk_199765 · Cited by 71
Emergence of BRCA Reversion Mutations in Patients with Metastatic Castration-resistant Prostate Cancer After Treatment with Rucaparib
Loehr, A., Hussain, A., Patnaik, A., Bryce, A. H., Castellano, D., Pous, A. F., Shapiro, J. D., Zhang, J., Sautois, B. R., Vogelzang, N. J., et al. (2022) · European Urology · doi:10.1016/j.eururo.2022.09.010 · Cited by 67
Strategies for improving detection of circulating tumor DNA using next generation sequencing
Tébar-Martínez, R., Martín-Arana, J., Gimeno-Valiente, F., Tarazona, N., Rentero-Garrido, P., & Cervantes, A. M. R. (2023) · Cancer Treatment Reviews · doi:10.1016/j.ctrv.2023.102595 · Cited by 70
Ripretinib versus sunitinib in gastrointestinal stromal tumor: ctDNA biomarker analysis of the phase 3 INTRIGUE trial
Heinrich, M. C., Jones, R. L., George, S., Gelderblom, H. A. J., Schöffski, P., von Mehren, M., Zalcberg, J. R., Kang, Y., Razak, A. A., Trent, J. C., et al. (2024) · Nature Medicine · doi:10.1038/s41591-023-02734-5 · Cited by 69
Liquid Biopsy: From Basic Research to Clinical Practice
Macías, M., Alegre, E., Díaz‐Lagares, Á., Patiño‐García, A., Perez‐Gracia, J. L., Sanmamed, M. F., López‐López, R., Varo, N., & González, Á. (2017) · Advances in clinical chemistry · doi:10.1016/bs.acc.2017.10.003 · Cited by 71
Preoperative Circulating Tumor DNA in Patients with Peritoneal Carcinomatosis is an Independent Predictor of Progression-Free Survival
Baumgartner, J. M., Raymond, V. M., Lanman, R. B., Tran, L., Kelly, K. J., Lowy, A. M., & Kurzrock, R. (2018) · Annals of Surgical Oncology · doi:10.1245/s10434-018-6561-z · Cited by 69
“9999%).(24) All cfDNA was sequenced, including the germline cfDNA that is derived from leukocyte lysis and the somatic cfDNA.”
Next Generation Sequencing-Based Profiling of Cell Free DNA in Patients with Advanced Non-Small Cell Lung Cancer: Advantages and Pitfalls
Abate, R. E., Frezzetti, D., Maiello, M. R., Gallo, M., Camerlingo, R., Luca, A. D., Cecio, R. D., Morabito, A., & Normanno, N. (2020) · Cancers · doi:10.3390/cancers12123804 · Cited by 69
“This panel is able to assess genetic alterations (SNVs, indels, CNV, fusions) in 73 cancer related genes [45,46].”
Background
ESR1 mutations in HR+/HER2-metastatic breast cancer: Enhancing the accuracy of ctDNA testing
Venetis, K., Pepe, F., Pescia, C., Cursano, G., Criscitiello, C., Frascarelli, C., Mane, E., Russo, G., Salimbeni, B. T., Troncone, G., et al. (2023) · Cancer Treatment Reviews · doi:10.1016/j.ctrv.2023.102642 · Cited by 71
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
“…been developed which target disease-specific structural rearrangements such as ALK and ROS1 gene fusions, which have enabled non-small cell lung cancer (NSCLC) patients harboring these mutations to be effectively treated with tyrosine kinase inhibitors (Lanman et al, 2015; Plagnol et al, 2018).”
Methylation patterns in serum DNA for early identification of disseminated breast cancer
Widschwendter, M., Evans, I., Jones, A., Ghazali, S., Reisel, D., Ryan, A., Gentry‐Maharaj, A., Zikán, M., Cibula, D., Eichner, J., et al. (2017) · Genome Medicine · doi:10.1186/s13073-017-0499-9 · Cited by 70
“1 mutated in the background of 1000 non-mutated alleles can be detected [15, 21]).”
Background
Analysis of Tissue and Circulating Tumor DNA by Next-Generation Sequencing of Hepatocellular Carcinoma: Implications for Targeted Therapeutics
Ikeda, S., Lim, J. S., & Kurzrock, R. (2018) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-17-0604 · Cited by 64
Automated size selection for short cell-free DNA fragments enriches for circulating tumor DNA and improves error correction during next generation sequencing
Hellwig, S., Nix, D. A., Gligorich, K. M., O'Shea, J. M., Thomas, A., Fuertes, C. L., Bhetariya, P., Marth, G., Bronner, M., & Underhill, H. (2018) · PLoS ONE · doi:10.1371/journal.pone.0197333 · Cited by 57
Cell-Free DNA Next-Generation Sequencing Prediction of Response and Resistance to Third-Generation EGFR Inhibitor
Helman, E., Nguyen, M., Karlovich, C., Despain, D., Choquette, A. K., Spira, A. I., Yu, H. A., Camidge, D. R., Harding, T. C., Lanman, R. B., et al. (2018) · Clinical Lung Cancer · doi:10.1016/j.cllc.2018.07.008 · Cited by 65
“This cfDNA NGS test uses hybrid capture and molecular barcoding in a method known as digital sequencing to sequence the critical exons in 70 genes, and includes all 4 major types of alterations: single nucleotide variants, indels, selected copy number amplifications, and fusions.(21)”
Acquired Resistance to Poly (ADP-ribose) Polymerase Inhibitor Olaparib in BRCA2-Associated Prostate Cancer Resulting From Biallelic BRCA2 Reversion Mutations Restores Both Germline and Somatic Loss-of-Function Mutations
Carneiro, B. A., Collier, K. A., Nagy, R. J., Pamarthy, S., Sagar, V., Fairclough, S. R., Odegaard, J. I., Lanman, R. B., da Costa, R. B., Taxter, T., et al. (2018) · JCO Precision Oncology · doi:10.1200/po.17.00176 · Cited by 68
Technical Validation of a Next-Generation Sequencing Assay for Detecting Clinically Relevant Levels of Breast Cancer–Related Single-Nucleotide Variants and Copy Number Variants Using Simulated Cell-Free DNA
Yang, X., Chu, Y., Zhang, R., Han, Y., Zhang, L., Fu, Y., Li, D., Peng, R., Li, D., Ding, J., et al. (2017) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2017.04.007 · Cited by 62
Liquid biopsy: An emerging prognostic and predictive tool in Head and Neck Squamous Cell Carcinoma (HNSCC). Focus on Circulating Tumor Cells (CTCs)
Economopoulou, P., Kotsantis, I., Kyrodimos, E., Lianidou, E. S., & Psyrri, A. K. (2017) · Oral Oncology · doi:10.1016/j.oraloncology.2017.09.012 · Cited by 64
Association of a novel circulating tumor DNA next-generating sequencing platform with circulating tumor cells (CTCs) and CTC clusters in metastatic breast cancer
Davis, A. A., Zhang, Q., Gerratana, L., Shah, A. N., Zhan, Y., Qiang, W., Finkelman, B. S., Flaum, L., Behdad, A., Gradishar, W. J., et al. (2019) · Breast Cancer Research · doi:10.1186/s13058-019-1229-6 · Cited by 61
Heterogeneous mutation pattern in tumor tissue and circulating tumor DNA warrants parallel NGS panel testing
Guo, Q., Wang, J., Xiao, J., Wang, L., Hu, X., Yu, W., Song, G., Lou, J., & Chen, J. (2018) · Molecular Cancer · doi:10.1186/s12943-018-0875-0 · Cited by 61
Revisiting Epidermal Growth Factor Receptor (EGFR) Amplification as a Target for Anti-EGFR Therapy: Analysis of Cell-Free Circulating Tumor DNA in Patients With Advanced Malignancies
Kato, S., Okamura, R., Mareboina, M., Lee, S., Goodman, A. M., Patel, S. P., Fanta, P. T., Schwab, R. B., Vu, P., Raymond, V. M., et al. (2019) · JCO Precision Oncology · doi:10.1200/po.18.00180 · Cited by 64
Clinical Utility of Analyzing Circulating Tumor DNA in Patients with Metastatic Colorectal Cancer
Nakamura, Y., & Yoshino, T. (2018) · The Oncologist · doi:10.1634/theoncologist.2017-0621 · Cited by 61
“Guardant360, an NGS-based ctDNA analysis method that targets cancer-related genes, was shown to identify CNAs for multiple genes, including ERBB2, EGFR, and MET, with high diagnostic accuracy [62].”
Method
Biomarker Discovery and Outcomes for Comprehensive Cell-Free Circulating Tumor DNA Versus Standard-of-Care Tissue Testing in Advanced Non–Small-Cell Lung Cancer
Palmero, R., Taus, Á., Viteri, S., Majem, M., Carcereny, E., Garde, J., Felip, E., Nadal, E., Malfettone, A., Sampayo-Cordero, M., et al. (2021) · JCO Precision Oncology · doi:10.1200/po.20.00241 · Cited by 60
“As described elsewhere, Guardant360 is a comprehensive cfDNA NGS assay detecting all four variant types (point mutations, small indels, fusions, and amplification) with high specificity and sensitivity.(27,28) Results for the baseline pretreatment cfDNA samples were released to the treating physician per standard repo…”
Method
Clinical Utility of Circulating Cell-Free DNA Mutations in Anaplastic Thyroid Carcinoma
Qin, Y., Wang, J. R., Wang, Y., Iyer, P. C., Cote, G. J., Busaidy, N. L., Dadu, R., Zafereo, M., Williams, M. D., Ferrarotto, R., et al. (2021) · Thyroid · doi:10.1089/thy.2020.0296 · Cited by 60
Cell-free DNA as a molecular tool for monitoring disease progression and response to therapy in breast cancer patients
Liang, D. H., Ensor, J., Liu, Z.-B., Patel, A., Patel, T. A., Chang, J. C., & Rodriguez, A. A. (2015) · Breast Cancer Research and Treatment · doi:10.1007/s10549-015-3635-5 · Cited by 61
Correlation of genomic alterations assessed by next-generation sequencing (NGS) of tumor tissue DNA and circulating tumor DNA (ctDNA) in metastatic renal cell carcinoma (mRCC): potential clinical implications
Hahn, A. W., Gill, D. M., Maughan, B. L., Agarwal, A. M., Arjyal, L., Gupta, S. V., Streeter, J., Bailey, E. B., Pal, S. K., & Agarwal, N. (2017) · Oncotarget · doi:10.18632/oncotarget.16833 · Cited by 60
“Guardant360 is a NGS platform that uses circulating tumor DNA (ctDNA) to characterize 72 somatic cancer-associated genes (supplementary document 1) [8].”
Background
Current status of liquid biopsies for the detection and management of prostate cancer
Lu, Y., Delijani, K., Mecum, A., & Goldkorn, A. (2019) · Cancer Management and Research · doi:10.2147/cmar.s170380 · Cited by 63
Is tissue still the issue in detecting molecular alterations in lung cancer?
Liam, C. K., Mallawathantri, S., & Fong, K. M. (2020) · Respirology · doi:10.1111/resp.13823 · Cited by 61
Circulating tumor cells in the early detection of human cancers
Feng, Z., Wu, J., Lu, Y., Chan, Y.-T., Zhang, C., Wang, D., Luo, D., Huang, Y., Feng, Y., & Wang, N. (2022) · International Journal of Biological Sciences · doi:10.7150/ijbs.71768 · Cited by 60
“The reasons are complex, including the reluctance of patients, high cost, and time-consuming [82, 83].”
Background
Individualised multiplexed circulating tumour DNA assays for monitoring of tumour presence in patients after colorectal cancer surgery
Ng, S. B. H., Chua, C., Ng, M. C. H., Gan, A., Poon, P. S. Y., Teo, M. C. C., Fu, C. W. P., Leow, W. Q., Lim, K. H., Chung, A. Y. F., et al. (2017) · Scientific Reports · doi:10.1038/srep40737 · Cited by 61
Clinical validation of a next-generation sequencing-based multi-cancer early detection “liquid biopsy” blood test in over 1,000 dogs using an independent testing set: The CANcer Detection in Dogs (CANDiD) study
Flory, A., Kruglyak, K. M., Tynan, J. A., McLennan, L. M., Rafalko, J. M., Fiaux, P. C., Hernandez, G. E., Marass, F., Nakashe, P., Ruiz-Pérez, C. A., et al. (2022) · PLoS ONE · doi:10.1371/journal.pone.0266623 · Cited by 58
Liquid biopsy genotyping in lung cancer: ready for clinical utility?
Huang, W.-L., Chen, Y.-L., Yang, S., Ho, C., Wei, F., Wong, D. T., Su, W., & Lin, C. (2017) · Oncotarget · doi:10.18632/oncotarget.14613 · Cited by 58
“With the improvement of NGS platforms, including nonoverlapping integrated reads (NIOR) [34], adding barcode sequences by adaptor ligation, and a digital sequencing platform that enables single molecular sensitivity [35], the false positives decreased and sensitivity increased.”
Background
Association of Circulating Tumor DNA (ctDNA) Detection in Metastatic Renal Cell Carcinoma (mRCC) with Tumor Burden
Maia, M. C., Bergerot, P. G., Dizman, N., Hsu, J., Jones, J. O., Lanman, R. B., Banks, K. C., & Pal, S. K. (2017) · Kidney Cancer · doi:10.3233/kca-170007 · Cited by 57
“Technical specifications of this assay have been previously published [10].”
Method
Targeted Tissue and Cell-Free Tumor DNA Sequencing of Advanced Lung Squamous-Cell Carcinoma Reveals Clinically Significant Prevalence of Actionable Alterations
Lam, V. K. L., Tran, H. T., Banks, K. C., Lanman, R. B., Rinsurongkawong, W., Peled, N., Lewis, J., Lee, J. J., Roth, J. A., Roarty, E. B., et al. (2018) · Clinical Lung Cancer · doi:10.1016/j.cllc.2018.08.020 · Cited by 58
First-Line Treatment of Non-Small-Cell Lung Cancer (NSCLC) with Immune Checkpoint Inhibitors
Bylicki, O., Barazzutti, H., Paleiron, N., Margery, J., Assié, J., & CHOUAID, C. (2019) · BioDrugs · doi:10.1007/s40259-019-00339-4 · Cited by 60
Circulating Tumor DNA Kinetics Predict Progression-Free and Overall Survival in EGFR TKI–Treated Patients with EGFR -Mutant NSCLC (SWOG S1403)
Mack, P. C., Miao, J., Redman, M. W., Moon, J., Goldberg, S. B., Herbst, R. S., Melnick, M. A., Walther, Z., Hirsch, F. R., Politi, K. A., et al. (2022) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-22-0741 · Cited by 57
Development of a comprehensive cell-free DNA (cfDNA) assay for early detection of multiple tumor types: The Circulating Cell-free Genome Atlas (CCGA) study.
Klein, E. A., Hubbell, E. A., Maddala, T., Aravanis, A. M., Beausang, J. F., Filippova, D., Gross, S. S., Jamshidi, A., Kurtzman, K. N., Shen, L., et al. (2018) · Journal of Clinical Oncology · doi:10.1200/jco.2018.36.15_suppl.12021 · Cited by 57
EGFR Testing in Advanced Non–Small-Cell Lung Cancer, A Mini-Review
Sheikine, Y., Rangachari, D., McDonald, D. C., Huberman, M. S., Folch, E. S., VanderLaan, P. A., & Costa, D. B. (2016) · Clinical Lung Cancer · doi:10.1016/j.cllc.2016.05.016 · Cited by 56
Circulating tumor DNA alterations in patients with metastatic castration‐resistant prostate cancer
Sonpavde, G., Agarwal, N., Pond, G. R., Nagy, R. J., Nussenzveig, R. H., Hahn, A. W., Sartor, O. A., Gourdin, T. S., Nandagopal, L., Ledet, E. M., et al. (2019) · Cancer · doi:10.1002/cncr.31959 · Cited by 54
“A modest number of up to 73 genes were evaluated, and somatic and germline variants were bioinformatically inferred as previously described.(13) In patients with high tumor shedding, somatic alterations also could be as high as within the 50% range, and allelic imbalances (copy number loss or gain) could cause the all…”
Method
Molecular landscape of ERBB2 alterations in 3000 advanced NSCLC patients
Hong, L., Patel, S. A., Drusbosky, L. M., Xiong, Y., Chen, R., Geng, R., Heeke, S., Nilsson, M. B., Wu, J., Heymach, J. V., et al. (2024) · npj Precision Oncology · doi:10.1038/s41698-024-00720-9 · Cited by 62
“The Guardant360 assay is a com-prehensivegenomicpro ﬁ ling assay thatidenti ﬁ essingle-nucleotidevariants (SNVs), insertions and deletions, fusions, and ampli ﬁ cations 50 .”
Method
Ultra-Sensitive Mutation Detection and Genome-Wide DNA Copy Number Reconstruction by Error-Corrected Circulating Tumor DNA Sequencing
Mansukhani, S., Barber, L. J., Kleftogiannis, D., Moorcraft, S. Y., Davidson, M., Woolston, A., Proszek, P., Griffiths, B. L., Fenwick, K., Herman, B., et al. (2018) · Clinical Chemistry · doi:10.1373/clinchem.2018.289629 · Cited by 55
Longitudinal Dynamics of Circulating Tumor Cells and Circulating Tumor DNA for Treatment Monitoring in Metastatic Breast Cancer
Gerratana, L., Davis, A. A., Zhang, Q., Basile, D., Rossi, G., Strickland, K. S., Franzoni, A., Allegri, L., Mu, Z., Zhang, Y., et al. (2021) · JCO Precision Oncology · doi:10.1200/po.20.00345 · Cited by 54
Targeting ERBB2 ( HER2 ) Amplification Identified by Next-Generation Sequencing in Patients With Advanced or Metastatic Solid Tumors Beyond Conventional Indications
Dumbrava, E. E. I., Balaji, K., Raghav, K. P. S., Hess, K. R., Javle, M. M., Blum-Murphy, M. A., Ajani, J. A., Kopetz, S., Broaddus, R. R., Routbort, M. J., et al. (2019) · JCO Precision Oncology · doi:10.1200/po.18.00345 · Cited by 56
“NGS has been shown to meet the sensitivity of detection for mutations used in clinical trials, permitting simultaneous testing of copy number variations in hundreds of genes.(28,40,43)”
Method
Harnessing cell-free DNA: plasma circulating tumour DNA for liquid biopsy in genitourinary cancers
Maia, M. C., Salgia, M. M., & Pal, S. K. (2020) · Nature Reviews Urology · doi:10.1038/s41585-020-0297-9 · Cited by 56
The economic value of liquid biopsy for genomic profiling in advanced non-small cell lung cancer
Ezeife, D. A., Spackman, E., Juergens, R. A., Laskin, J. J., Agulnik, J. S., Hao, D., Laurie, S. A., Law, J. H., Le, L. W., Kiedrowski, L. A., et al. (2022) · Therapeutic Advances in Medical Oncology · doi:10.1177/17588359221112696 · Cited by 53

Authors: 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., Lee, J., Nikolinakos, P. G., Baca, A. M., Kermani, B. G., Eltoukhy, H., & Talasaz, A.
Affiliations: Guardant (United States) (US)
Northwest Medical Specialties (US)
University of California, San Francisco (US)
Saint John's Health Center (US)
Samsung Medical Center (KR)
University Cancer and Blood Center (US)
Corresponding author: Lanman, Richard B.
Talasaz, AmirAli
ORCID: Lanman, Richard B.
Mortimer, Stefanie A.
Zill, Oliver A.
Blau, Sibel
Collisson, Eric A.
Hoon, Dave S. B.
Lee, Jeeyun
Talasaz, AmirAli
Venue: PLoS ONE
Publisher: Public Library of Science (PLoS)
Published: 2015-10-16
Volume: 10
Issue: 10
Pages: e0140712
ISSN: 1932-6203 (ISSN-L)
DOI: 10.1371/journal.pone.0140712
PMC: PMC4608804
OpenAlex: W1864344361
Cited by: 695
References: 79
Citations by year: 2026: 24 · 2025: 46 · 2024: 40 · 2023: 66 · 2022: 57 · 2021: 60 · 2020: 82 · 2019: 92 · 2018: 102 · 2017: 91 · 2016: 31 · 2015: 3
FWCI: 25.02
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
creativecommons.org/licenses/by/4.0/ (vor)
Locations: PLoS ONE (publishedVersion, cc-by)
Europe PMC (PubMed Central) (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
eScholarship (California Digital Library) (submittedVersion, cc-by)
Figshare (submittedVersion, cc-by)
Funders: National Cancer Institute (P30CA016672)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Keywords: circulating tumor DNA, cell-free DNA, liquid biopsy, cancer gene panel, clinical validation, mutant allele fraction, solid tumors, biopsy alternative
MeSH terms: DNA, Neoplasm, Female, Humans, Male, Neoplasms, High-Throughput Nucleotide Sequencing

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Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA

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