The DOI matches its Crossref record; 78 of the 79 references it cites were found in a registry or an index.
Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA
Open accessAbstract
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Moreover, ctDNA is readily detectable in lung cancer patient blood (20, 27, 29, 30), and sensitivity of variant detection was recently shown to be higher in ctDNA than CTCs (25).”
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
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].”
BackgroundNowell, 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].”
BackgroundDetection 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].”
BackgroundAccurate 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].”
MethodA 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
Flagged first, then by citations
1 of the 79 references couldn’t be matched to a known paper.
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
Cited by
Sorted by citations
Items 201–300 of 701
Navarro-Yepes, J., Kettner, N. M., Rao, X., Bishop, C. S., Bui, T. N., Wingate, H. F., Raghavendra, A. S., Wang, Y., Wang, J., Şahin, A. A., et al. (2023) · Cancer Research · doi:10.1158/0008-5472.can-23-0705 · Cited by 55
Cell-free DNA in cancer: current insights
Fettke, H., Kwan, E. M., & Azad, A. (2018) · Cellular Oncology · doi:10.1007/s13402-018-0413-5 · Cited by 53
Circulating tumor DNA analysis in the era of precision oncology
Said, R., Guibert, N. M., Oxnard, G. R., & Tsimberidou, A. M. (2020) · Oncotarget · doi:10.18632/oncotarget.27418 · Cited by 53
Highly sensitive fusion detection using plasma cell‐free RNA in non‐small‐cell lung cancers
Hasegawa, N., Kohsaka, S., Kurokawa, K., Shinno, Y., Nakamura, I. T., Ueno, T., Kojima, S., Kawazu, M., Suehara, Y., Ishijima, M., et al. (2021) · Cancer Science · doi:10.1111/cas.15084 · Cited by 52
Kato, S., Schwaederlé, M. C., Fanta, P. T., Okamura, R., Leichman, L., Lippman, S. M., Lanman, R. B., Raymond, V. M., Talasaz, A., & Kurzrock, R. (2019) · JCO Precision Oncology · doi:10.1200/po.18.00158 · Cited by 52
Self-citationSTK11 alterations in the pan-cancer setting: prognostic and therapeutic implications
Krishnamurthy, N., Goodman, A. M., Barkauskas, D. A., & Kurzrock, R. (2021) · European Journal of Cancer · doi:10.1016/j.ejca.2021.01.050 · Cited by 51
Cons: Can liquid biopsy replace tissue biopsy?—the US experience
Mino-Kenudson, M. A. (2016) · Translational Lung Cancer Research · doi:10.21037/tlcr.2016.08.01 · Cited by 51
“com/guardant360/) is one such example (14).”
BackgroundMaking the Rounds: Exploring the Role of Circulating Tumor DNA (ctDNA) in Non-Small Cell Lung Cancer
Shields, M. D., Chen, K., Dutcher, G., Patel, I., & Pellini, B. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23169006 · Cited by 51
“Commercially available multigene panels have revolutionized patient care in the 21st century, leading to the FDA approval of two liquid biopsy assays (Table 1): Guardant360® CDx [25,43,44] and FoundationOne® Liquid CDx [26,80].”
BackgroundInfluentialGoldberg, R. M., Montagut, C. O., Wainberg, Z. A., Ronga, P., Audhuy, F., Taı̈eb, J., Stintzing, S., Siena, S., & Santini, D. (2018) · ESMO Open · doi:10.1136/esmoopen-2018-000353 · Cited by 51
Role of Osimertinib in the Treatment of EGFR-Mutation Positive Non-Small-Cell Lung Cancer
Carlisle, J. W., & Ramalingam, S. S. (2019) · Future Oncology · doi:10.2217/fon-2018-0626 · Cited by 50
Fujii, Y., Ono, A., Hayes, C. N., Aikata, H., Yamauchi, M., Uchikawa, S., Kodama, K., Teraoka, Y., Fujino, H., Nakahara, T., et al. (2021) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/s13046-021-02016-3 · Cited by 49
Sudhan, D. R., Guerrero-Zotano, A., Won, H., González Ericsson, P., Servetto, A., Huerta-Rosario, M., Ye, D., Lee, K.-M., Formisano, L., Guo, Y., et al. (2020) · Cancer Cell · doi:10.1016/j.ccell.2019.12.013 · Cited by 49
“Plasma cfDNA sequencing was performed by Guardant Health using the Guardant360 assay (Lanman et al., 2015).”
MethodRaghav, K. P. S., Shen, J. P., Jacome, A. A. D. A., Guerra, J. L., Scally, C. P., Taggart, M. W., Foo, W. C., Matamoros, A., Shaw, K. R. M., Fournier, K. F., et al. (2020) · British Journal of Cancer · doi:10.1038/s41416-020-1015-3 · Cited by 48
“Blood NGS was performed using Guardant360 (Guardant Health, Redwood City, CA) circulating cell-free DNA (cfDNA) testing.(29) For the comparative exploratory analyses with CRC, sidedness and CMS profiles were extracted using CRC patients reported previously by MDACC, MSK and includes those from TCGA.”
MethodScott, R. J., Mehta, A., Macedo, G. S., Borisov, P. S., Kanesvaran, R., & El-Metnawy, W. (2021) · Oncotarget · doi:10.18632/oncotarget.28015 · Cited by 49
“01% to 90% of the total cell-free DNA found in blood, and is usually found at a lower frequency in the plasma [40, 41].”
BackgroundThe Role of Cell-Free DNA in Cancer Treatment Decision Making
Telekes, A., & Horváth, A. (2022) · Cancers · doi:10.3390/cancers14246115 · Cited by 50
“The driver genes are expected to be more important in time regarding the decision making in oncology [180].”
BackgroundCirculating tumor DNA in hepatocellular carcinoma: trends and challenges
Tang, J., Feng, Y.-L., Guo, T., Xie, A., & Cai, X. (2016) · Cell & Bioscience · doi:10.1186/s13578-016-0100-z · Cited by 49
Ledet, E. M., Lilly, M. B., Sonpavde, G., Lin, E., Nussenzveig, R. H., Barata, P. C., Yandell, M. D., Nagy, R. J., Kiedrowski, L. A., Agarwal, N., et al. (2019) · The Oncologist · doi:10.1634/theoncologist.2019-0115 · Cited by 48
“Testing was performed using the Guardant Health standard collection protocol, in which peripheral venous blood, collected in two 10-cc Streck tubes, was used to obtain 5–30 ng of ctDNA from isolated plasma and analyzed as previously described [12, 13].”
MethodPapadopoulos, N. (2019) · Recent results in cancer research/Recent Results in Cancer Research · doi:10.1007/978-3-030-26439-0_9 · Cited by 49
Kwon, H., Shin, S. H., Kim, H. H., Min, N. Y., Lim, Y., Joo, T., Lee, K. J., Jeong, M., Kim, H., Yun, S.-Y., et al. (2023) · Scientific Reports · doi:10.1038/s41598-023-40611-w · Cited by 52
Goetz, M. P., Hamilton, E. P., Campone, M., Hurvitz, S. A., Cortés, J., Johnston, S. R. D., Llombart‐Cussac, A., Kaufman, P. A., Toi, M., Jérusalem, G., et al. (2023) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-22-3573 · Cited by 47
Goyal, L., Ditoro, D. F., Facchinetti, F., Martin, E. E., Peng, P., Baiev, I., Iyer, R., Maurer, J., Reyes, S., Zhang, K., et al. (2024) · Annals of Oncology · doi:10.1016/j.annonc.2024.12.011 · Cited by 50
Zinková, A., Brynychova, I., Svacina, A., Jirkovská, M., & Korabečná, M. (2017) · Scientific Reports · doi:10.1038/s41598-017-02905-8 · Cited by 47
Gerratana, L., Davis, A. A., Polano, M., Zhang, Q., Shah, A. N., Lin, C., Basile, D., Toffoli, G., Wehbe, F., Puglisi, F., et al. (2020) · European Journal of Cancer · doi:10.1016/j.ejca.2020.11.005 · Cited by 47
Kato, S., Kurasaki, K., Ikeda, S., & Kurzrock, R. (2017) · The Oncologist · doi:10.1634/theoncologist.2017-0199 · Cited by 45
“The assay reports single nucleotide variants in all genes and selected copy number amplifications, fusions, and indel events [18].”
MethodThe Role of Circulating Tumor DNA in Renal Cell Carcinoma
Bergerot, P. G., Hahn, A. W., Bergerot, C. D., Jones, J. O., & Pal, S. K. (2018) · Current Treatment Options in Oncology · doi:10.1007/s11864-018-0530-4 · Cited by 46
Ikeda, S., Schwaederle, M. C., Mohindra, M., Jardim, D. L. F., & Kurzrock, R. (2018) · Journal of Hematology & Oncology · doi:10.1186/s13045-018-0610-8 · Cited by 46
“[17], 5–30 ng of ctDNA was isolated from plasma (two 10 ml Streck tubes drawn for each patient) and sequencing libraries were prepared with custom in-line barcode molecular tagging and complete sequencing at 15,000× read depth (~ 4000 unique double-stranded cfDNA fragments, each represented by 3–5 sequencing reads).”
BackgroundMethodInfluentialArshad, J., Roberts, A., Ahmed, J., Cotta, J. A., Pico, B., Kwon, D., & Trent, J. C. (2020) · JCO Precision Oncology · doi:10.1200/po.19.00253 · Cited by 46
Shanmugam, A., Hariharan, A., Hasina, R., Nair, J., Katragadda, S., Irusappan, S., Ravichandran, A., Veeramachaneni, V., Bettadapura, R., Bhati, M., et al. (2020) · Cancer · doi:10.1002/cncr.33393 · Cited by 39
“1587 Cancer May 15, 2021 previously been explored in the context of pan-cancer panels with footprints of ≥16 genes.(52,53) Although a large panel size reduces off-target capture, it requires a higher number of reads per sample to achieve sufficient depth for variant allele detection at 0.”
BackgroundMethodPage, R. D., Drusbosky, L. M., Dada, H. I., Raymond, V. M., Daniel, D. B., Divers, S. G., Reckamp, K. L., Villalona-Calero, M. A., Dix, D., Odegaard, J. I., et al. (2021) · Clinical Lung Cancer · doi:10.1016/j.cllc.2021.10.001 · Cited by 47
Serial ctDNA analysis predicts clinical progression in patients with advanced urothelial carcinoma
Shohdy, K. S., Villamar, D. M., Cao, Y. T. K. H., Trieu, J., Price, K. S., Nagy, R. J., Tagawa, S. T., Molina, A. M., Sternberg, C. N., Nanus, D. M., et al. (2022) · British Journal of Cancer · doi:10.1038/s41416-021-01648-8 · Cited by 45
“Several methods have been developed to interrogate the ctDNA in plasma obtained from cancer patients [4, 6, 7].”
MethodClinical Utility and Benefits of Comprehensive Genomic Profiling in Cancer
Tjota, M. Y., Segal, J. P., & Wang, P. (2024) · The Journal of Applied Laboratory Medicine · doi:10.1093/jalm/jfad091 · Cited by 49
Circulating tumour DNA, a promising biomarker for the management of colorectal cancer
Khakoo, S. S., Georgiou, A., Gerlinger, M., Cunningham, D., & Starling, N. (2017) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2017.12.002 · Cited by 47
Jankú, F., Diamond, E. L., Goodman, A. M., Raghavan, V. K., Barnes, T. G., Kato, S., Abdel-Wahab, O. I., Durham, B. H., Meric‐Bernstam, F., & Kurzrock, R. (2019) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-18-1244 · Cited by 45
“0 are reported asþþþ amplification, representing the 50th to 90th and >90th percentiles, respectively of the copy number call in the Guardant360 database (24).”
BackgroundMethodBlood-based next-generation sequencing analysis of neuroendocrine neoplasms
Zakka, K. M., Nagy, R. J., Drusbosky, L. M., Akce, M., Wu, C. S.-Y., Alese, O. B., El‐Rayes, B. F., Kasi, P. M., Mody, K., Starr, J. S., et al. (2020) · Oncotarget · doi:10.18632/oncotarget.27588 · Cited by 45
Garcia, J., Kamps‐Hughes, N., Geiguer, F., Couraud, S., Sarver, B. A. J., Payen, L. F., & Ionescu‐Zanetti, C. (2021) · Scientific Reports · doi:10.1038/s41598-021-89592-8 · Cited by 46
A Noninvasive Multianalytical Approach for Lung Cancer Diagnosis of Patients with Pulmonary Nodules
Liu, Q., Zhou, D., Han, T., Lu, X., Hou, B., Li, M., Yang, G., Li, Q., Pei, Z., Hong, Y., et al. (2021) · Advanced Science · doi:10.1002/advs.202100104 · Cited by 44
Bronkhorst, A. J., & Holdenrieder, S. (2023) · Medizinische Genetik · doi:10.1515/medgen-2023-2065 · Cited by 48
“While previous methods focused on detecting somatic single nucleotide variants (SSNVs) in re-currently mutated cancer genes [126,166], SCNAs are more broadly applicable as most metastatic cancers exhibit arm-level SCNAs [167].”
MethodShatsky, R. A., Parker, B. A., Bui, N. Q., Helsten, T. L., Schwab, R. B., Boles, S. G., & Kurzrock, R. (2019) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-17-1038 · Cited by 44
Geva, S., Rozenblum, A. B., Twito, T., Grinberg, R., Dvir, A., Soussan‐Gutman, L., Ilouze, M., Roisman, L. C., Dudnik, E., Zer, A., et al. (2018) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2018.07.101 · Cited by 43
The current status of the clinical utility of liquid biopsies in cancer
Snow, A. E., Chen, D., & Lang, J. E. (2019) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2019.1664290 · Cited by 44
“regions, have high false positive rates when there are low concentrations of tumor DNA [56].”
BackgroundJohnson, R. M., Qu, X., Lin, C.-F., Huw, L.-Y., Venkatanarayan, A., Sokol, E., Ou, F.-S., Ihuegbu, N., Zill, O. A., Kabbarah, O., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-33172-5 · Cited by 42
Roosan, M. R., Mambetsariev, I., Pharaon, R. R., Fricke, J., Husain, H., Reckamp, K. L., Koczywas, M., Massarelli, E., Bild, A. H., & Salgia, R. (2021) · CHEST Journal · doi:10.1016/j.chest.2021.04.016 · Cited by 42
Modular probes for enriching and detecting complex nucleic acid sequences
Wang, J. S., Yan, Y. H., & Zhang, D. Y. (2017) · Nature Chemistry · doi:10.1038/nchem.2820 · Cited by 42
Deans, Z. C., Butler, R., Cheetham, M. H., Dequeker, E. M. C., Fairley, J. A., Fenizia, F., Hall, J. A., Keppens, C., Normanno, N., Schuuring, E. M. D., et al. (2019) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-019-02571-3 · Cited by 42
Emerging Molecular Technologies in Renal Cell Carcinoma: Liquid Biopsy
Cimadamore, A., Gasparrini, S., Massari, F., Santoni, M., Liang Cheng, C., Antonio Lopez-beltran, B., Scarpelli, M., & Montironi, R. (2019) · Cancers · doi:10.3390/cancers11020196 · Cited by 40
“Some clinical research studies sequence specific genes of interest applying hotspots panels [15–17].”
BackgroundMartínez‐Sáez, O., Pascual, T., Brasó‐Maristany, F., Chic, N., González‐Farré, B., Sanfeliu, E., Rodríguez, A., Martínez, D., Galván, P., Rodríguez, A. B., et al. (2021) · npj Breast Cancer · doi:10.1038/s41523-021-00218-8 · Cited by 39
Slater, S., Bryant, A., Aresu, M., Begum, R., Chen, H.-C., Peckitt, C., Lazaro-Alcausi, R., Carter, P. D., Anandappa, G., Khakoo, S. S., et al. (2024) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-24-0226 · Cited by 43
“Circulating free DNA was extracted from 1.5-to 10-mL plasma, similar to previously described methods (19).”
MethodInfluentialLi, J., Jiang, W., Wei, J., Zhang, J., Cai, L., Luo, M., Wang, Z., Sun, W., Wang, S., Wang, C., et al. (2020) · Journal of Translational Medicine · doi:10.1186/s12967-020-02449-y · Cited by 42
Achour, B., Gosselin, P., Terrier, J. E., Gloor, Y. S., Al‐Majdoub, Z. M., Polasek, T. M., Daali, Y., Rostami‐Hodjegan, A., & Reny, J. (2022) · Clinical Pharmacology & Therapeutics · doi:10.1002/cpt.2576 · Cited by 40
Parikh, K., Dimou, A., Leventakos, K., Mansfield, A. S., Shanshal, M., Wan, Y., Lin, H. M., Vincent, S., Elliott, J., & Bonta, I. R. (2024) · Journal of Thoracic Oncology · doi:10.1016/j.jtho.2024.07.009 · Cited by 40
Carneiro, B. A., Pamarthy, S., Shah, A. N., Sagar, V., Unno, K., Han, H., Yang, X. J., Costa, R. B., Nagy, R. J., Lanman, R. B., et al. (2018) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-18-0332 · Cited by 38
Johnson, B., Loree, J. M., Jacome, A. A. D. A., Mendis, S. R., Syed, M., Morris, V. K., Parseghian, C. M., Dasari, A. N., Pant, S., Raymond, V. M., et al. (2019) · JCO Precision Oncology · doi:10.1200/po.19.00102 · Cited by 42
“Details of the assay, including detection limit of sensitivity and coverage (covers all exons of BRAF), have been published.(9,10) Treatment histories were not known for this cohort; therefore, we used a previously validated and highly specific score to define EGFR-exposed patients.”
MethodChallenges in Using ctDNA to Achieve Early Detection of CancerPreprint
Haque, I. S., & Elemento, O. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/237578 · Cited by 38
“Under these assumptions, it is evident that reasonably sized panels for tumor liquid biopsy are commercially possible with present-day technology: 15 mL sample draw (compared to 20 mL reported in a real-world validation [Lanman2015]), with sequencing cost in the tens to hundreds of USD.”
BackgroundMethodMorris, 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
“S1) according tomethodology described previously (28) and approved for use in a Clinical Laboratory Improvement Amendment (CLIA) environment.”
MethodSelf-citationThe Mutational Landscape of Gastrointestinal Malignancies as Reflected by Circulating Tumor DNA
Riviere, P. J., Fanta, P. T., Ikeda, S., Baumgartner, J. M., Heestand, G. M., & Kurzrock, R. (2017) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-17-0360 · Cited by 39
“Gene amplifications were reported by absolute copy number detected in plasma, as compared with normal controls from healthy patients included in each run (18).”
BackgroundTechnical considerations for circulating tumor DNA detection in oncology
Franczak, C., Filhine-Trésarrieu, P., Gilson, P., Merlin, J., Au, L., & Harlé, A. (2019) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2019.1568873 · Cited by 38
Lapin, M., Huang, H. J., Chagani, S., Javle, M. M., Shroff, R. T., Pant, S., Gouda, M. A., Raina, A., Madwani, K., Holley, V. R., et al. (2022) · JCO Precision Oncology · doi:10.1200/po.21.00197 · Cited by 38
“8-1,106 ng) of cfDNA, which was exposed to barcoding to be processed and sequenced into a digital library as described earlier (Data Supplement).(11,12) Statistical Analysis TheMann-Whitney U test was used to compare groups, and the Wilcoxon signed-rank test was used to compare paired samples collected before therapy…”
MethodCucchiara, F., Petrini, I., Romei, C., Crucitta, S., Lucchesi, M., Valleggi, S., Scavone, C., Capuano, A., LIPERI, A. D., Chella, A., et al. (2021) · Pharmacological Research · doi:10.1016/j.phrs.2021.105643 · Cited by 39
Brazel, D., Kroening, G., & Nagasaka, M. (2022) · BioDrugs · doi:10.1007/s40259-022-00556-4 · Cited by 37
Clifton, K., Rich, T. A., Parseghian, C. M., Raymond, V. M., Dasari, A. N., Pereira, A. A. L., Willis, J. A., Loree, J. M., Bauer, T. M., Chae, Y. K., et al. (2019) · JCO Precision Oncology · doi:10.1200/po.19.00141 · Cited by 37
“METHODS Patient Population A cohort of 4,289 consecutive patients with stage III or IV CRC underwent molecular profiling at 4,581 unique time points between February 2015 and December 2017 using a validated plasma-based 68-, 70-, or 73-gene ctDNA NGS assay (Guardant360, Guardant Health, Redwood City, CA), as previousl…”
MethodThe Use of ctDNA in the Diagnosis and Monitoring of Hepatocellular Carcinoma—Literature Review
Kopystecka, A., Patryn, R. K., Leśniewska, M., Budzyńska, J., & Kozioł, I. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24119342 · Cited by 36
RET Fusion Lung Carcinoma: Response to Therapy and Clinical Features in a Case Series of 14 Patients
Sarfaty, M., Moore, A., Neiman, V., Dudnik, E., Ilouze, M., Gottfried, M., Katznelson, R., Nechushtan, H., Sorotsky, H. G., Paz, K., et al. (2016) · Clinical Lung Cancer · doi:10.1016/j.cllc.2016.09.003 · Cited by 36
Circulating Tumor Cells and Circulating Tumor DNA
Lianidou, E. S., & Hoon, D. S. �. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-816061-9.00009-6 · Cited by 36
Jönsson, V. D., Blakely, C. M., Lin, L., Asthana, S., Matni, N., Olivas, V. R., Pazarentzos, E., Gubens, M. A., Bastian, B. C., Taylor, B. S., et al. (2017) · Scientific Reports · doi:10.1038/srep44206 · Cited by 36
“Our approach suggests a paradigm shift that would require regular monitoring of an individual patient’s tumor mutational status, for instance by mutational analysis of plasma cell-free circulating tumor DNA, so-called “liquid biopsies” 32–36 .”
BackgroundBotrus, G., Kosirorek, H., Sonbol, M. B., Kusne, Y. N., Usón, P. L. S., Borad, M. J., Ahn, D. H., Kasi, P. M., Drusbosky, L. M., Dada, H. I., et al. (2021) · The Oncologist · doi:10.1002/onco.13717 · Cited by 36
“Bioinformatics analysis of NGS data has been previously described [18, 19].”
MethodZhao, C., Jiang, T., Ju, J. H., Zhang, S., Tao, J., Fu, Y. S., LoCoco, J. S., Dockter, J., Pawlowski, T. L., & Bilke, S. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.10.21.349100 · Cited by 35
Recent Advances in Liquid Biopsy in Precision Oncology Research
Sato, Y., Matoba, R., & Kato, K. (2019) · Biological and Pharmaceutical Bulletin · doi:10.1248/bpb.b18-00804 · Cited by 35
Clinical Applications of Next-Generation Sequencing in Precision Oncology
Karlovich, C., & Williams, P. M. (2019) · The Cancer Journal · doi:10.1097/ppo.0000000000000385 · Cited by 37
Circulating tumor DNA in colorectal cancer: opportunities and challenges.
Bi, F., Wang, Q., Dong, Q., Wang, Y., Zhang, L., & Zhang, J. (2020) · PubMed Central · Cited by 35
A Targeted Gene Panel for Circulating Tumor DNA Sequencing in Neuroblastoma
Cimmino, F., Lasorsa, V. A., Vetrella, S., Iolascon, A., & Capasso, M. (2020) · Frontiers in Oncology · doi:10.3389/fonc.2020.596191 · Cited by 35
“Furthermore, detecting mutations in key cancer genes, that are not actionable per se, could also benefit patient’s management by improving diagnosis, prognosis and treatment strategies setting (see (10, 12, 15, 45, 46)).”
BackgroundERBB2 Pathway in Biliary Tract Carcinoma: Clinical Implications of a Targetable Pathway
Jacobi, O., Ross, J. S., Goshen‐Lago, T., Haddad, R., Moore, A., Sulkes, A., Brenner, B., & Ben‐Aharon, I. (2020) · Oncology Research and Treatment · doi:10.1159/000511919 · Cited by 35
Okamura, R., Piccioni, D. E., Boichard, A., Lee, S., Jimenez, R. E., Sicklick, J. K., Kato, S., & Kurzrock, R. (2021) · International Journal of Cancer · doi:10.1002/ijc.33481 · Cited by 37
“9999%) (54-73 genes: Table S1).(12) The original panel of 54-gene (point mutations in 54 genes and amplifications in 3 genes) was used for 45 samples; the second panel of 68-gene (point mutations in 68 genes, amplifications in 16 genes, fusions in 4 genes, and insertions/deletions in EGFR) for 61 samples; the third pa…”
Ohyama, H., Hirotsu, Y., Amemiya, K., Mikata, R., Amano, H., Hirose, S., Oyama, T., Iimuro, Y., Kojima, Y., Mochizuki, H., et al. (2023) · Cancer Genetics · doi:10.1016/j.cancergen.2023.12.002 · Cited by 34
Yang, M., Topaloĝlu, Ü., Petty, W. J., Pagni, M., Foley, K. L., Grant, S. C., Robinson, M., Bitting, R. L., Thomas, A., Alistar, A. T., et al. (2017) · Journal of Hematology & Oncology · doi:10.1186/s13045-017-0468-1 · Cited by 34
“The ctDNA was then analyzed by paired-end sequencing by synthesis utilizing an Illumina Hi-Seq 2000 platform and hg19 as the reference genome as described [32].”
MethodLiu, L., Liu, H., Шао, Д., Zu, L., Wang, J., Deng, Q., Tang, H., Yang, H., Zhang, Y., Qiu, Y., et al. (2017) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22522 · Cited by 34
Li, R., & Liang, Z.-Y. (2020) · Chinese Medical Journal · doi:10.1097/cm9.0000000000001097 · Cited by 39
“CNAs can be detected in ctDNA using whole-genome sequencing (WGS),([71,72]) amplicon-based,([73]) and hybridcapture approaches.”
BackgroundSpring, L. M., Clark, S. L., Li, T., Goel, S., Tayob, N., Viscosi, E., Abraham, E., Juric, D., Isakoff, S. J., Mayer, E. L., et al. (2021) · npj Breast Cancer · doi:10.1038/s41523-021-00311-y · Cited by 34
Li, S., Xin, K., Pan, S., Wang, Y., Zheng, J., Li, Z., Liu, X., Liu, B., Xu, Z., & Chen, X. (2023) · Cellular & Molecular Biology Letters · doi:10.1186/s11658-023-00442-z · Cited by 34
Liquid Biopsy for Glioma Using Cell-Free DNA in Cerebrospinal Fluid
Otsuji, R., Fujioka, Y., Hata, N., Kuga, D., Hatae, R., Sangatsuda, Y., Nakamizo, A., Mizoguchi, M., & Yoshimoto, K. (2024) · Cancers · doi:10.3390/cancers16051009 · Cited by 37
“Applications of NGS include targeted gene panels [110,111], whole-exome sequencing (WES) [112–115], and whole-genome sequencing (WGS).”
BackgroundPerdigones, N., & Murtaza, M. (2017) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2017.02.003 · Cited by 33
Role of liquid biopsies in colorectal cancer
Wills, B., Gorse, E., & Lee, V. (2018) · Current Problems in Cancer · doi:10.1016/j.currproblcancer.2018.08.004 · Cited by 34
Monitoring Melanoma Using Circulating Free DNA
Diefenbach, R. J., Lee, J., & Rizos, H. (2018) · American Journal of Clinical Dermatology · doi:10.1007/s40257-018-0398-x · Cited by 36
Pratt, E. D., Cowan, R. W., Manning, S. L., Qiao, E. M., Cameron, H., Schradle, K. A., Simeone, D. M., & Zhen, D. B. (2019) · Analytical Chemistry · doi:10.1021/acs.analchem.8b01605 · Cited by 33
The potential of ctDNA analysis in breast cancer
Tzanikou, E., & Lianidou, E. S. (2019) · Critical Reviews in Clinical Laboratory Sciences · doi:10.1080/10408363.2019.1670615 · Cited by 33
Development of circulating tumour DNA analysis for gastrointestinal cancers
Nakamura, Y., & Shitara, K. (2020) · ESMO Open · doi:10.1136/esmoopen-2019-000600 · Cited by 33
Henry, N. L., Shah, P. D., Haider, I., Freer, P. E., Jagsi, R., & Sabel, M. S. (2020) · Elsevier eBooks · doi:10.1016/b978-0-323-47674-4.00088-8 · Cited by 37
Mehrotra, M., Singh, R. R., Loghavi, S., Duose, D. Y., Barkoh, B. A., Behrens, C., Patel, K. P., Routbort, M. J., Kopetz, S., Broaddus, R. R., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.21982 · Cited by 34
Kamps‐Hughes, N., McUsic, A., Kurihara, L. J., Harkins, T. T., Pal, P., Ray, C., & Ionescu‐Zanetti, C. (2018) · PLoS ONE · doi:10.1371/journal.pone.0195272 · Cited by 32
Targeted Single Primer Enrichment Sequencing with Single End Duplex-UMI
Peng, Q., Xu, C., Kim, D. J., Lewis, M., DiCarlo, J., & Wang, Y. (2019) · Scientific Reports · doi:10.1038/s41598-019-41215-z · Cited by 32
Liquid Biopsies Using Circulating Tumor DNA in Non-Small Cell Lung Cancer
Pellini, B., Szymanski, J. J., Chin, R.-I., Jones, P. A., & Chaudhuri, A. A. (2020) · Thoracic surgery clinics/Thorac. surg. clin. · doi:10.1016/j.thorsurg.2020.01.005 · Cited by 32
Current therapy of advanced colorectal cancer according to RAS/RAF mutational status
Lakatos, G., Köhne, C., & Bodoky, G. (2020) · Cancer and Metastasis Reviews · doi:10.1007/s10555-020-09913-7 · Cited by 31
Detection and Diagnostic Utilization of Cellular and Cell-Free Tumor DNA
Dudley, J. C., & Diehn, M. (2020) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-012419-032604 · Cited by 31
Zhou, C., Yuan, Z., Ma, W., Qi, L., Mahavongtrakul, A., Li, Y., Li, H., Gong, J., Fan, R. R., Li, J., et al. (2018) · Journal of Hematology & Oncology · doi:10.1186/s13045-018-0671-8 · Cited by 31
Methylation in cell-free DNA for early cancer detection
de la Cruz, F. F., & Corcoran, R. B. (2018) · Annals of Oncology · doi:10.1093/annonc/mdy134 · Cited by 33
Advances in application of CRISPR-Cas13a system
Zhang, Y., Li, S., Li, R., Qiu, X., Fan, T., Wang, B., Zhang, B., & Zhang, L. (2024) · Frontiers in Cellular and Infection Microbiology · doi:10.3389/fcimb.2024.1291557 · Cited by 31
Clinical determinants for successful circulating tumor DNA analysis in prostate cancer
Schweizer, M. T., Gulati, R., Beightol, M., Konnick, E. Q., Cheng, H. H., Klemfuss, N. M., Sarkar, N. D., Yu, E. Y., Montgomery, B., Nelson, P. S., et al. (2019) · The Prostate · doi:10.1002/pros.23778 · Cited by 31
Medford, A. J., Dubash, T. D., Juric, D., Spring, L. M., Niemierko, A., Vidula, N., Peppercorn, J. M., Isakoff, S. J., Reeves, B. A., LiCausi, J. A., et al. (2019) · npj Precision Oncology · doi:10.1038/s41698-019-0090-5 · Cited by 32
Davis, A. A., Iams, W. T., Chan, D., Oh, M. S., Lentz, R. W., Peterman, N., Robertson, A., Shah, A., Srivas, R., Wilson, T., et al. (2020) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-19-1060 · Cited by 33
“In advanced disease, the most well validated clinical use is to identify driver mutations with known drug targets (Lanman et al. 2015; Diaz and Bardelli 2014; Reckamp et al. 2016; Juric et al. 2019).”
Herranz, R., Oto, J., Plana, E., Fernández‐Pardo, Á., Cana, F., Martínez-Sarmiento, M., Vera-Donoso, C. D., España, F., & Medina, P. (2021) · Cancers · doi:10.3390/cancers13061448 · Cited by 30
“using Agencourt Ampure XP beads (Beckman Coulter) [23] Guardant360 platform NGS-based 73-”
Akashi, K., Sakai, T., Fukuoka, O., Saito, Y., Yoshida, M., Ando, M., Ito, T., Murakami, Y., & Yamasoba, T. (2022) · Scientific Reports · doi:10.1038/s41598-021-04307-3 · Cited by 31
Metadata
- 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
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2015-10-16
- Volume
- 10
- Issue
- 10
- Pages
- e0140712
- ISSN
- 1932-6203 (ISSN-L)
- 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
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
