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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Items 501–600 of 701

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Background
Targeted Next-Generation Sequencing of Liquid Biopsy Samples from Patients with NSCLC
Mellert, H. S., Reese, J., Jackson, L. P., Maxwell, V., Tschida, C., & Pestano, G. A. (2021) · Diagnostics · doi:10.3390/diagnostics11020155 · Cited by 7
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McFarland, T. R., Thomas, V. M., Nussenzveig, R. H., Gebrael, G., Sayegh, N., Tripathi, N., Sahu, K. K., Goel, D., Maughan, B. L., Sirohi, D., et al. (2022) · Biomedicines · doi:10.3390/biomedicines10123170 · Cited by 6
“, Redwood City, CA, USA) [16] and FoundationOne Liquid CDx (Foundation Medicine, Inc.”
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Bar, Y., Keenan, J. C., Niemierko, A., Medford, A. J., Isakoff, S. J., Ellisen, L. W., Bardia, A., & Vidula, N. (2024) · npj Breast Cancer · doi:10.1038/s41523-024-00633-7 · Cited by 6
“…discontinuation draws occurred at time of disease progression. cfDNA sequencing and new alterations analysis cfDNA sequencing was performed as part of routine care, using the commercially available Guardant360 ® sequencing platform (74 cancer-related genes) as previously described 47,48 .”
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real‐world precision‐medicine population
Rosenberg, S., Cohen, G. B., Kato, S., Okamura, R., Lippman, S. M., & Kurzrock, R. (2023) · Molecular Oncology · doi:10.1002/1878-0261.13383 · Cited by 6
Small cell lung cancer transformation after EGFR-TKIs treatment in lung adenocarcinoma: A case report and literatures review
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“The reason for this is maybe because he has several co-mutated genes or because of the heterogeneity of tumors, different subclones are produced between tumor tissues, which leads to the sensitivity and specificity of whole blood NGS test not reaching 100%, so patients cannot benefit from third-generation EGFR-TKI.”
BackgroundInfluential
Utilizing cell-free DNA to predict risk of developing brain metastases in patients with metastatic breast cancer
Vidula, N., Niemierko, A., Hesler, K., Ryan, L. Y., Moy, B., Isakoff, S. J., Ellisen, L. W., Juric, D., & Bardia, A. (2023) · npj Breast Cancer · doi:10.1038/s41523-023-00528-z · Cited by 6
“Guardant360 ® is CLIA-certi ﬁ ed, College of American Pathologists-accredited, New York State Department of Health-approved cfDNA next-generation sequencing (NGS) assay with analytical and clinical validation previously reported 17,36,37 .”
On the Verge of Impossibility: Accounting for Variability Arising from Permutations of Comorbidities that Affect the Fate of Drugs in the Human Body
Rostami‐Hodjegan, A., & Achour, B. (2023) · AAPS introductions in the pharmaceutical sciences · doi:10.1007/978-3-031-29541-6_6 · Cited by 7
An ultrasensitive method for detecting mutations from short and rare cell-free DNA
Wang, L., Zhuang, Y., Yu, Y., Guo, Z., Guo, Q., Qiao, L., Wang, X., Liang, X., Zhang, P., Li, Q., et al. (2023) · Biosensors and Bioelectronics · doi:10.1016/j.bios.2023.115548 · Cited by 7
Virtual Molecular and Precision Medicine Clinic to Improve Access to Clinical Trials for Patients With Metastatic Breast Cancer: An Academic/Community Collaboration
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“9999% analytic sensitivity and a comparable clinical sensitivity to that of tissue-derived NGS [8].”
BackgroundInfluential
Epidermal growth factor receptor mutation testing: From conventional to real-time diagnosis of lung cancer
Raja, T., & Warrier, N. K. (2017) · Indian Journal of Cancer · doi:10.4103/ijc.ijc_507_17 · Cited by 6
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“The sequencing findings were compared with those obtained after sequencing of these samples with the Guardant360 assay as an orthogonal method.(17) Frequencies of variant alleles that were detected in both assays had high concordance.”
BackgroundMethodInfluential
Prevalence of pathogenic germline variants in the circulating tumor DNA testing
Yamamoto, Y., Fukuyama, K., Kanai, M., Kondo, T., Yoshioka, M., Kou, T., Quy, P. N., Kimura‐Tsuchiya, R., Yamada, T., Matsumoto, S., et al. (2022) · International Journal of Clinical Oncology · doi:10.1007/s10147-022-02220-x · Cited by 6
“In ctDNA testing, small fractions of ctDNA can be detected among the total cell-free DNAs by incorporating a combination of molecular barcoding technology and bioinformatics methods [1].”
Method
Uncommon EGFR Mutations in Non-Small Cell Lung Cancer and Their Impact on the Treatment
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Elevated ctDNA Tumor Fraction Is Associated with Improved Mutation Detection but Worse Overall Survival in Advanced Non–Small Cell Lung Cancer: A Lung-MAP Study
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“…Redwood City, CA,USA), a qualitative NGS-based in vitro diagnostic device that uses targeted high throughput hybridization-based capture technology for detection of SNVs, insertions and deletions (indels), CNVs and fusions of both synonymous and non-synonymous alteration in up to 74 genes 38 – 40 .”
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“Recently, growing evidence has demonstrated the potential of diagnosing cancer by detecting DNA mutations from cfDNA, which is released from tumor tissues [6–18].”
A Phase 2 study of Savolitinib in Patients with MET Amplified Metastatic Colorectal Cancer
Jia, J., Moyer, A. N., Lowe, M. E., Bolch, E. K., Kortmansky, J. S., Cho, M. T., Lenz, H., Kalyan, A., Niedzwiecki, D., & Strickler, J. H. (2024) · Journal of Gastrointestinal Cancer · doi:10.1007/s12029-024-01156-x · Cited by 5
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“Concordance of plasma cfDNA results with tumor tissue across solid tumors has been previously researched; overall concordance can vary depending on a variety of factors, including timing of sample collection and overlap of assay panels utilized, but in studies controlling for these variables, analytical concordance is…”
Background
Oncogene Overlap Analysis of Circulating Cell-free Tumor DNA to Explore the Appropriate Criteria for Defining MET Copy Number–Driven Lung Cancer
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“The ctDNA test is constrained by the assay panel’s design, which makes the tumor signal dilution and eventual susceptibility to false-negative findings possible.(33,34) Our results were consistent with other studies, suggesting that CTC sequencing can provide an alternative method for comprehensive genomic investigati…”
Result
Chemotherapy-free treatment targeting fusions and driver mutations in KRAS wild-type pancreatic ductal adenocarcinoma, a case series
Mehdi, M., Szabo, A., Shreenivas, A. V., Thomas, J. P., Tsai, S., Christians, K. K., Evans, D. B., Clarke, C. N., Hall, W. A., Erickson, B. E., et al. (2024) · Therapeutic Advances in Medical Oncology · doi:10.1177/17588359241253113 · Cited by 5
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“The limit of detection (LoD) in NGS has been optimized for liquid biopsy management by the use of unique molecular identifiers (UMI)- based approaches and improved bioinformatic analysis, reaching the 0.01% VAF [118,119].”
Influential
From Lab to Clinic: Artificial Intelligence with Spectroscopic Liquid Biopsies
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“However, in 2021, the FDA PMA approved two liquid biopsy tests that measure multiple genetic changes in plasma samples: Guardant360 ® CDx (Guardant Health) [146]. and FoundationOne ® Liquid CDx (Foundation Medicine) [147].”
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“23,24 Guardant360 can detect genomic alterations in up to 83 genes and, in select genes, identify copy number amplifications, rearrangement/ fusions, and insertions/deletions.”
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Regarding the Congruence Between 2 Circulating Tumor DNA Sequencing Assays—Reply
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Early assessment of molecular progression and response by whole-genome circulating tumor DNA in advanced solid tumorsPreprint
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CDK4/6 Inhibitors in Breast Cancer—Who Should Receive Them?
Chen, A., Zheng, Z.-Y., Anurag, M., Elkhanany, A. M., Chen, N., & Chang, E. C. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms262110322 · Cited by 3
“Wild type CRAF can control endocrine therapy by directly activating CDK4, and up to 8% in a cohort of metastatic breast cancers [45] harbor genetic alterations in CRAF (e.g., amplification).”
Analytical validation of a hybrid-approach combining tumor-informed and tumor-agnostic bespoke ctDNA panel assay for the sensitive detection of minimal residual disease
Heo, S., Ham, S., Lee, H., Han, B., Roh, H., Jeong, S., Kim, H., Bang, D., Song, S., & Kim, T. (2025) · PLoS ONE · doi:10.1371/journal.pone.0334282 · Cited by 3
A liquid biopsy-RNAseq method for monitoring the expression of genes involved in drug disposition: Proof-of-concept application to cholestatic liver disease
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Advances in the Basic Sciences in Thoracic Oncology in the Last 20 Years and Their Translational Impact
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Progress in genome-inspired treatment decisions for multifocal lung adenocarcinoma
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“However, some suggest that genetic discordance between plasma and tissue samples could represent tumor heterogeneity rather than poor sensitivity, and that results should be interpreted in tandem when making treatment decisions [159–161].”
Result
Genomic amplifications identified by circulating tumor DNA analysis guide prognosis in metastatic castration-resistant prostate cancer
Dincman, T. A., Karam, J. A. Q., Giordano, A., Li, H., Drusbosky, L. M., Gourdin, T. S., Howe, P. H., & Lilly, M. B. (2024) · Frontiers in Oncology · doi:10.3389/fonc.2023.1202277 · Cited by 3
“Patients with mPC who were seen at the Medical University of South Carolina ’ s Hollings Cancer Center (Charleston, SC) from March 2015 through March 2020 and underwent ctDNA evaluation using the Guardant360 ® platform (Guardant Health Inc., Redwood City, CA) were eligible for analysis (21).”
Method
The role of cell‐free DNA in non‐invasive diagnosis of urinary tract infection
Zhao, Y., Zhang, W., Ma, Y., & Zhang, X. (2024) · UroPrecision · doi:10.1002/uro2.52 · Cited by 3
Recent advances in the management of metastatic prostate cancer: optimizing use of existing therapies, while searching for novel interventions
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Rationale and design of the BRAVERY study (EPOC1701): a multicentre phase II study of eribulin in patients with BRAF V600E mutant metastatic colorectal cancer
Masuishi, T., Taniguchi, H., Kotani, D., Bando, H., Komatsu, Y., Shinozaki, E., Nakajima, T. E., Satoh, T., Nishina, T., Esaki, T., et al. (2019) · ESMO Open · doi:10.1136/esmoopen-2019-000590 · Cited by 3
Molecular remission using personalized low-dose immunotherapy with minimal toxicities for poor prognosis hematological and solid tumor cancers
Maharaj, D., Polineni, V., Abreu, M. M., & Gouvea, J. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-822620-9.00002-1 · Cited by 3
Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes
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“2024;56(1):314-323 tial heterogeneity [19,20].”
Genomic Landscape of Advanced Solid Tumors in Middle East and North Africa Using Circulating Tumor DNA in Routine Clinical Practice
Dawood, S. S., Sandhir, N., Akasheh, M., Khoury, M. E., Otsmane, S., Al-Nassar, M., Abulkhair, O. A. M., Farhat, F., & Olsen, S. (2024) · Oncology · doi:10.1159/000541571 · Cited by 3
“…ctDNA Next-Generation Sequencing Guardant360 ® (Guardant Health Inc.; Redwood City, CA, USA) is a comprehensive genomic pro ﬁ ling assay that identi ﬁ es single-nucleotide variants (SNVs), insertions and deletions (indels), fusions, and ampli ﬁ cations (amps) using a single blood sample [17, 18].”
Circulating DNA in Cancer Diagnosis and Prognosis
Vietsch, E. E., & Wellstein, A. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-811785-9.00014-4 · Cited by 3
Molecular Diagnosis of Human Disease
Williams, E. S., & Silverman, L. M. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-802761-5.00030-4 · Cited by 3
Circulating tumor DNA—From bench to bedside
Lim, J. S. J., Jankú, F., & Yap, T. A. (2017) · Current Problems in Cancer · doi:10.1016/j.currproblcancer.2017.02.005 · Cited by 3
Comparative analysis of Adam33 mutations in murine lung cancer cell lines by droplet digital PCR, real-time PCR and Insight Onco™ NGS
Kim, S., Kim, E., & Rim, K.-T. (2018) · Molecular & Cellular Toxicology · doi:10.1007/s13273-018-0024-2 · Cited by 3
Current Utility and Future Applications of ctDNA in Colorectal Cancer
Day, D., Frentzas, S., Naidu, C. A., Segelov, E., & Green, M. M. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.82316 · Cited by 3
“Improved sensitivity techniques with the use of targeted-sequencing methods have been developed by several groups [9, 91].”
BackgroundMethod
Optimizing Molecular Residual Disease Detection using Liquid Biopsy Postoperatively in Early Stage Lung Cancer
McGuire, A., Hughesman, C. B., McConechy, M. K., Melosky, B., Lam, S. C., Myers, R. L., Yee, J., Tang, E., & Yip, S. S. F. (2020) · Lung Cancer Management · doi:10.2217/lmt-2019-0017 · Cited by 3
Case report: 16-yr life history and genomic evolution of an ER+ HER2− breast cancerPreprint
Xu, B., Amallraja, A., Swaminathan, P., Elsey, R. J., Davis, C. M., Theel, S., Viet, S., Petersen, J. L., Krie, A. K., Davies, G., et al. (2020) · Molecular Case Studies · doi:10.1101/mcs.a005629 · Cited by 4
“Guardant360 is a 73-gene ctDNA sequencing (average coverage=8000×) test with analytic validation (Lanman et al. 2015; Odegaard et al. 2018).”
Background
Processing UMI Datasets at High Accuracy and Efficiency with the Sentieon ctDNA Analysis PipelinePreprint
Hu, J., Jiang, C., Huang, Y. S., Chen, H., Feng, H., Freed, D. N., Qu, Y. D., Fan, R., Su, Z., & Chen, W. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.06.03.494742 · Cited by 3
“As a result, the adoption of NGS ctDNA assays have soared in precision oncology applications 8,9 .”
Background
Cell-free Tumor DNA: a Promising Technology for Diagnosis, Surveillance and Therapeutic Decision in Urothelial Carcinoma of the Bladder
Martinez, L. M., Ribeiro, L. C. S. L., Guidi, R. G., de Moraes, C. M. T., Lyra, C. R., Liebl, B., Guimarães, V. H. A., de Lima, R. D., de Almeida, L. S., Suartz, C. V., et al. (2025) · Current Oncology Reports · doi:10.1007/s11912-025-01648-4 · Cited by 3
“Pre-analytical factors such as the adequacy of the collection tube and the use of centrifugation are not yet standardized [19, 20].”
Brain metastases in patients with metastatic breast cancer and BRCA1/2 mutations in cell-free DNA
Vidula, N., Blouch, E. L., Hesler, K., Niemierko, A., & Bardia, A. (2025) · Breast Cancer Research and Treatment · doi:10.1007/s10549-025-07705-7 · Cited by 2
“The test has a clinical sensitivity of 85%, analytic sensitivity of 0.1% mutant allele fraction (MAF), specificity greater than 99.9%, a molecule count average of 8000 molecules, and single read depth average of 15,000 molecules [11].”
Influential
A duplex sequencing approach for high-sensitivity detection of genome-edited plants
Bonfini, L., Colaiacovo, M., Cristian, S., von Holst, C., Maretti, M., Gatto, F., Magni, F., Pérez-Bello, P., & Scaglione, D. (2025) · Food Chemistry Molecular Sciences · doi:10.1016/j.fochms.2025.100278 · Cited by 2
“High-throughput massive parallel sequencing approaches have been developed and validated in the biomedical field for the detection of low abundance sequence variants in cancer samples, in pathogens, as well as in other areas (Chen et al., 2023; Lanman et al., 2015; Newman et al., 2016).”
Emerging technologies and clinical translation of urine-based liquid biopsy in urological cancers
Yoon, S.-Y., Yang, G., Nam, J.-K., Goh, H.-J., Kim, T. N., & Leem, S. (2025) · Genes & Genomics · doi:10.1007/s13258-025-01680-5 · Cited by 2
Fragmentation patterns of pathogen-derived cell-free DNA as a promising non-invasive biomarker for bloodstream infection diagnosis
Fu, Q., Wang, J., Yue, L., Lu, T., Shi, W., Li, C., Jiang, X., Wang, P., & Chen, F. (2025) · Practical Laboratory Medicine · doi:10.1016/j.plabm.2025.e00513 · Cited by 2
“It is widely used in molecular diagnostics for conditions like fetal abnormalities [8,9], transplanted organ rejection [10,11] and malignant tumors [12,13].”
Can TP53, TMB and TME Expand the Immunotherapy Benefit in Metastatic Colorectal Cancer?
Specchia, M., Drittone, D., Mazzotti, E., & Mazzuca, F. (2025) · Cancers · doi:10.3390/cancers17243984 · Cited by 2
“For example, FoundationOne, Guardant360 may classify the same tumor with differing TMB values [14,15].”
Methylated circulating tumor DNA biomarkers for the blood-based detection of cancer signals
Hitchins, M. (2022) · Epigenetics in Precision Medicine · doi:10.1016/b978-0-12-823008-4.00001-9 · Cited by 2
Analytical and clinical validation of a custom 15-gene next-generation sequencing panel for the evaluation of circulating tumor DNA mutations in patients with advanced non-small-cell lung cancer
Chow, Y. P., Abidin, N. Z., Kow, K. S., Tho, L. M., & Wong, C. L. (2022) · PLoS ONE · doi:10.1371/journal.pone.0276161 · Cited by 2
“6% respectively as compared to tissue-based NGS [29].”
Background
[Chinese Expert Consensus on Non-small Cell Lung Cancer with EGFR Exon 20 Insertion Mutations (2023 Edition)].
(2023) · PubMed Central · doi:10.3779/j.issn.1009-3419.2023.106.10 · Cited by 2
Role of Circulating Tumor DNA in Colorectal Cancer
Li, H., Lu, S., Zhou, Z., Zhu, X., & Shao, Y. (2023) · Methods in molecular biology · doi:10.1007/978-1-0716-3346-5_15 · Cited by 2
Characterization of Incidental Pathogenic Germline Findings Detected via ctDNA among Patients with Non-Small Cell Lung Cancer in a Predominantly Hispanic/Latinx Population
Vallabhaneni, E., Kareff, S. A., Barnett, R. M., Drusbosky, L. M., Dalal, S., Raez, L. E., Santos, E. S., Albrecht, F., Cusnir, M., & Rodríguez, E. (2024) · Cancers · doi:10.3390/cancers16061150 · Cited by 2
“…DNA isolated from plasma was processed for digital next-generation sequencing (NGS), in accordance with its previously described validation [21,22]. iPGVs are reported for mutations with a variant allele frequency suspicious for germline origin (e.g., based on variant allele fraction cut-offs…”
Method
Liquid biopsy of wash samples obtained via endoscopic ultrasound‐guided fine‐needle biopsy: Comparison with liquid biopsy of plasma in pancreatic cancer
Ohyama, H., Hirotsu, Y., Amemiya, K., Amano, H., Hirose, S., Oyama, T., Iimuro, Y., Kojima, Y., Mikata, R., Mochizuki, H., et al. (2024) · Diagnostic Cytopathology · doi:10.1002/dc.25306 · Cited by 2
Impact of Race/Ethnicity on Clinical and Genomic Characteristics, Trial Participation, and Genotype-Matched Therapy among Patients with Metastatic Breast Cancer
Sood, R., Niemierko, A., Ryan, L. Y., Spring, L. M., Moy, B., Bardia, A., & Vidula, N. (2025) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-24-2825 · Cited by 2
Routine Clinical Liquid Biopsy Testing for Solid Tumors Delivers the Promise of Minimally Invasive Detection of Genomic Variants With a Faster Turnaround Time
Wang, P., Yang, R. K., Jelloul, F. Z., Luthra, R., Routbort, M. J., Chen, H., Loghavi, S., Ok, C. Y., Kanagal‐Shamanna, R., Roy‐Chowdhuri, S., et al. (2025) · JCO Precision Oncology · doi:10.1200/po.24.00299 · Cited by 2
“12,20 In this cohort, the allele frequencies (AFs) from 11 commonly mutated or clinically signi ﬁ cant genes ( BRAF , EGFR , ERBB2 , KRAS , STK11 , TP53 , APC , NRAS , PIK3CA , PTEN , and SMAD4 ) in lung and colorectal cancers are shown in Figure 1B; 74% of these mutations were identi ﬁ ed with…”
Liquid Biopsy for Colorectal Cancer Screening, A Modern Approach for Patients Stratification and Monitoring
Ginghină, O., & Niţipir, C. (2018) · InTech eBooks · doi:10.5772/intechopen.72701 · Cited by 2
The contribution of the 20th century discoveries on the circulating DNA as biomarkers for cancer screening
Alves, G., Chantre-Justino, M., & Delmonico, L. (2020) · Anais da Academia Brasileira de Ciências · doi:10.1590/0001-3765202020200919 · Cited by 2
Circulating Tumor DNA—the Potential of Liquid Biopsies
Cravero, K., & Park, B. H. (2016) · Current Breast Cancer Reports · doi:10.1007/s12609-016-0199-2 · Cited by 2
Impact of genomic sequencing on precision medicine for clinical oncology
Araujo, L. H., Krook, M. A., & Roychowdhury, S. (2016) · Expert Review of Precision Medicine and Drug Development · doi:10.1080/23808993.2016.1184966 · Cited by 2
Detecting and Monitoring Circulating Stromal Cells from Solid Tumors Using Blood-Based Biopsies in the Twenty-First Century: Have Circulating Stromal Cells Come of Age?
Adams, D. L., & Cristofanilli, M. (2017) · Cancer drug discovery and develogment/Cancer drug discovery and development · doi:10.1007/978-3-319-50956-3_5 · Cited by 2
HER2 Activating Mutations in Estrogen Receptor Positive Breast Cancer
Murray, E. M., Cherian, M. A., Ma, C. X., & Bose, R. (2018) · Current Breast Cancer Reports · doi:10.1007/s12609-018-0265-z · Cited by 2
Practical Concepts, Current Challenges, and Technological Advances in Clinical Next-Generation Sequencing Assays for Solid Tumors
Alikhan, M. B., Al‐Kawaaz, M., Kaul, K. L., & Sabatini, L. M. (2019) · Advances in Molecular Pathology · doi:10.1016/j.yamp.2019.07.012 · Cited by 2
The Clinical Significance of Circulating Tumor DNA for Minimal Residual Disease Identification in Early-Stage Non-Small Cell Lung Cancer
Verlicchi, A., Canale, M., Chiadini, E., Cravero, P., Urbini, M., Andrikou, K., Pasini, L., Flospergher, M., Burgio, M. A., Crinò, L., et al. (2023) · Life · doi:10.3390/life13091915 · Cited by 2
“Prior to sequencing, amplicon-based assays target hundreds of PCR amplicons, while hybrid capture increase the genomic region of interest [54–56].”
Method
Clinical Application of Molecular Features in Therapeutic Selection and Drug Development
Lu, R., Tang, R. S., & Huang, J. (2019) · Springer eBooks · doi:10.1007/978-3-030-31503-0_8 · Cited by 2
Targeted Fibroblast Growth Factor Receptor (FGFR) Inhibition in Recurrent, Metastatic Anal Carcinoma: A Case Report.
Miranda, K. W., Cimino, S., & Eng, C. (2022) · Clinical colorectal cancer · doi:10.1016/j.clcc.2022.01.001 · Cited by 3
Evolution and clinical impact of genetic epistasis within EGFR-mutant lung cancersPreprint
Blakely, C. M., Watkins, T. B. K., Wu, W., Gini, B., Chabon, J. J., McCoach, C. E., McGranahan, N., Wilson, G. A., Birkbak, N. J., Olivas, V. R., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/117291 · Cited by 2
Comprehensive Longitudinal ctDNA Monitoring in Metastatic Cancer Patients Treated with an Individualized Neoantigen-directed VaccinePreprint
Schenk, D., Davis, M. J., Zhou, R., Mantilla, A., Galbraith, M., Spiro, O., Petrillo, O., do Valle, Í. F., Ferguson, A. R., Jooss, K. U., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.12.04.626817 · Cited by 2
Quantification of Rare Single-Molecule Species Based on Fluorescence Lifetime
Liu, C., Rastogi, A., & Yeh, H. (2017) · Analytical Chemistry · doi:10.1021/acs.analchem.7b00397 · Cited by 1
Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer Patients
Radefeldt, M., Stellmacher, S., Krake, S., Kragl, B., Lemke, S., Beetz, C., Bauer, P., Junghanß, C., & Al‐Ali, R. (2023) · Life · doi:10.3390/life13122274 · Cited by 1
“This correlation allows us to utilize ctDNA to estimate the effectiveness of therapy and to predict tumor relapse and metastasis by monitoring the ctDNA load [9]. ctDNA typically constitutes a mere 0.5% of the total ccfDNA [10], making precise detection methods essential.”
MethodInfluential
Mutations Associated With High-Grade irAEs in NSCLC Patients Receiving Immunotherapies
Smith-Oliver, M. R., Wang, Y., Dixon, C. B., D'Agostino, R., Liu, Y., Ruiz, J., Oliver, G., Miller, L. D., Topaloĝlu, Ü., Chan, M. D., et al. (2024) · Clinical Lung Cancer · doi:10.1016/j.cllc.2024.07.003 · Cited by 1
The Growth Modulation Index (GMI) as an Efficacy Outcome in Cancer Clinical Trials: A Scoping Review with Suggested Reporting Guidelines
Trin, K., Dalleau, C., Mathoulin-Pélissier, S., Tourneau, C. L., Dinart, D., & Bellera, C. A. (2025) · Current Oncology Reports · doi:10.1007/s11912-025-01667-1 · Cited by 1
Case Report: Metastatic small bowel adenocarcinoma with DNA mismatch repair deficiency in an organ transplant recipient treated with anti-PD-1 immunotherapy
Phung, Q. H., Tsai, A. K., Park, B., Schat, R., Spong, R., Tsai, J., Kulkarni, A. A., Antonarakis, E. S., & Gupta, A. (2025) · Frontiers in Oncology · doi:10.3389/fonc.2025.1579364 · Cited by 1
Revolutionizing early detection of TNBC: The rise of non-invasive biomarkers and next-gen diagnostic strategies
Ashraf, A., Amir, S. Z., Jahangir, L., Daniel, E., & Mustafa, M. (2025) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2025.105107 · Cited by 1
Circulating Tumor DNA in Breast Cancer: Diagnostic Insights From a Case Series
Mckay, C., Rahman, T., Ghimire, B., & Girgis, M. (2026) · Cureus · doi:10.7759/cureus.100833 · Cited by 1
“In contrast, Guardant360 is a fixed-panel ctDNA assay that provides comprehensive genomic profiling across a broad set of cancer-related genes, enabling identification of targetable alterations when deciding on treatment therapy [10].”

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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