351
Views
0
CrossRef citations to date
0
Altmetric
Review Article

Potential of circulating tumour DNA as a biomarker in liquid biopsy

, , &
Article: 2287236 | Received 31 Aug 2023, Accepted 17 Nov 2023, Published online: 27 Nov 2023

References

  • Kilgour E, Rothwell DG, Brady G, et al. Liquid biopsy-based biomarkers of treatment response and resistance. Cancer Cell. 2020;37(4):1–9. doi: 10.1016/j.ccell.2020.03.012.
  • Hirahata T, Ul Quraish R, Quraish AU, et al. Liquid biopsy: a distinctive approach to the diagnosis and prognosis of cancer. Cancer Inform. 2022;21:11769351221076062. doi: 10.1177/11769351221076062.
  • De Rubis G, Rajeev Krishnan S, Bebawy M. Liquid biopsies in cancer diagnosis, monitoring, and prognosis. Trends Pharmacol Sci. 2019;40(3):172–186. doi: 10.1016/j.tips.2019.01.006.
  • Pantel K, Alix-Panabières C. Circulating tumour cells in cancer patients: challenges and perspectives. Trends Mol Med. 2010;16(9):398–406. doi: 10.1016/j.molmed.2010.07.001.
  • Alix-Panabières C. The future of liquid biopsy. Nature. 2020;579(7800):S9. doi: 10.1038/d41586-020-00844-5.
  • Martins I, Ribeiro IP, Jorge J, et al. Liquid biopsies: applications for cancer diagnosis and monitoring. Genes. 2021;12(3):349. doi: 10.3390/genes12030349.
  • Casagrande GMS, Silva MO, Reis RM, et al. Liquid biopsy for lung cancer: up-to-date and perspectives for screening programs. Int J Mol Sci. 2023;24(3):2505. doi: 10.3390/ijms24032505.
  • Venetis K, Cursano G, Pescia C, et al. Liquid biopsy: cell-free DNA based analysis in breast cancer. J Liquid Biopsy. 2023;1:100002. doi: 10.1016/j.jlb.2023.100002.
  • Pessoa LS, Heringer M, Ferrer VP. ctDNA as a cancer biomarker: a broad overview. Crit Rev Oncol Hematol. 2020;155:103109. doi: 10.1016/j.critrevonc.2020.103109.
  • Keller L, Belloum Y, Wikman H, et al. Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond. Br J Cancer. 2021;124(2):345–358. doi: 10.1038/s41416-020-01047-5.
  • Soda N, Rehm BHA, Sonar P, et al. Advanced liquid biopsy technologies for circulating biomarker detection. J Mater Chem B. 2019;7(43):6670–6704. doi: 10.1039/c9tb01490j.
  • Cescon DW, Bratman SV, Chan SM, et al. Circulating tumor DNA and liquid biopsy in oncology. Nat Cancer. 2020;1(3):276–290. doi: 10.1038/s43018-020-0043-5.
  • Andersson D, Kristiansson H, Kubista M, et al. Ultrasensitive circulating tumor DNA analysis enables precision medicine: experimental workflow considerations. Expert Rev Mol Diagn. 2021;21(3):299–310. doi: 10.1080/14737159.2021.1889371.
  • Fernández-Lázaro D, García Hernández JL, García AC, et al. Liquid biopsy as novel tool in precision medicine: origins, properties, identification and clinical perspective of cancer’s biomarkers. Diagnostics. 2020;10(4):215. doi: 10.3390/diagnostics10040215.
  • Wu X, Li J, Gassa A, et al. Circulating tumor DNA as an emerging liquid biopsy biomarker for early diagnosis and therapeutic monitoring in hepatocellular carcinoma. Int J Biol Sci. 2020;16(9):1551–1562. doi: 10.7150/ijbs.44024.
  • Palmirotta R, Lovero D, Cafforio P, et al. Liquid biopsy of cancer: a multimodal diagnostic tool in clinical oncology. Ther Adv Med Oncol. 2018;10:1758835918794630–1758835930181785. doi: 10.1177/1758835918794630.
  • Lee EY, Lee EJ, Yoon H, et al. Comparison of four commercial kits for isolation of urinary cell-free DNA and sample storage conditions. Diagnostics. 2020;10(4):234. doi: 10.3390/diagnostics10040234.
  • Johansson G, Andersson D, Filges S, et al. Considerations and quality controls when analyzing cell-free tumor DNA. Biomol Detect Quantif. 2019;17:100078. Erratum in: Biomol Detect Quantif. 2019;17:100091. doi: 10.1016/j.bdq.2018.12.003.
  • Lee H, Park C, Na W, et al. Precision cell-free DNA extraction for liquid biopsy by integrated microfluidics. NPJ Precis Oncol. 2020;4:3. doi: 10.1038/s41698-019-0107-0.
  • Wang YH, Song Z, Hu XY, et al. Circulating tumor DNA analysis for tumor diagnosis. Talanta. 2021;228:122220. doi: 10.1016/j.talanta.2021.122220.
  • García-Foncillas J, Alba E, Aranda E, et al. Incorporating BEAMing technology as a liquid biopsy into clinical practice for the management of colorectal cancer patients: an expert taskforce review. Ann Oncol. 2017;28(12):2943–2949. doi: 10.1093/annonc/mdx501.
  • Alix-Panabières C, Pantel K. Liquid biopsy: from discovery to clinical application. Cancer Discov. 2021;11(4):858–873. doi: 10.1158/2159-8290.CD-20-1311.
  • Ziegler I, Lindström S. Källgren M, et al.,16S rDNA droplet digital PCR for monitoring bacterial DNAemia in bloodstream infections. PLoS One. 2019;14(11):e0224656. doi: 10.1371/journal.pone.0224656.
  • Im YR, Tsui DWY, Diaz LAJr, et al. Next-Generation liquid biopsies: embracing data science in oncology. Trends Cancer. 2021 Apr;7(4):283–292. doi: 10.1016/j.trecan.2020.11.001.
  • Chen M, Zhao H. Next-generation sequencing in liquid biopsy: cancer screening and early detection. Hum Genomics. 2019;13:34. doi: 10.1186/s40246-019-0220-8.
  • Rodríguez J, Avila J, Rolfo C, et al. When tissue is an issue the liquid biopsy is nonissue: a review. Oncol Ther. 2021;9(1):89–110. doi: 10.1007/s40487-021-00144-6.
  • Elazezy M, Joosse SA. Techniques of using circulating tumor DNA as a liquid biopsy component in cancer management. Comput Struct Biotechnol J. 2018;16:370–378. doi: 10.1016/j.csbj.2018.10.002.
  • Newman AM, Bratman SV, To J, et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Nat Med. 2014 Ma;20(5):548–554. doi: 10.1038/nm.3519.
  • Kinde I, Wu J, Papadopoulos N, et al. Detection and quantification of rare mutations with massively parallel sequencing. Proc Natl Acad Sci U S A. 2011;108(23):9530–9535. doi: 10.1073/pnas.1105422108.
  • Suwinski P, Ong C, Ling MHT, et al. Advancing personalized medicine through the application of whole exome sequencing and big data analytics. Front Genet. 2019;10:49. doi: 10.3389/fgene.2019.00049.
  • Austin-Tse CA, Jobanputra V, Perry DL, et al. Medical genome initiative*. Best practices for the interpretation and reporting of clinical whole genome sequencing. NPJ Genom Med. 2022;7(1):27. doi: 10.1038/s41525-022-00295-z.
  • Galardi F, Luca F, Romagnoli D, et al. Cell-Free DNA-Methylation-based methods and applications in oncology. Biomolecules. 2020;10(12):1677. doi: 10.3390/biom10121677.
  • Luo H, Wei W, Ye Z, et al. Liquid biopsy of methylation biomarkers in cell-free DNA. Trends Mol Med. 2021;27(5):482–500. doi: 10.1016/j.molmed.2020.12.011.
  • Pascual J, Attard G, Bidard FC, et al. ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO precision medicine working group. Ann Oncol. 2022;33(8):750–768. doi: 10.1016/j.annonc.2022.05.520.
  • Gormally E, Vineis P, Matullo G, et al. TP53 and KRAS2 mutations in plasma DNA of healthy subjects and subsequent cancer occurrence: a prospective study. Cancer Res. 2006;66(13):6871–6876. doi: 10.1158/0008-5472.CAN-05-4556.
  • Bettegowda C, Sausen M, Leary RJ, et al. Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med. 2014;6(224):224ra24. doi: 10.1126/scitranslmed.3007094.
  • Kunnath AP, Priyashini T. Potential applications of circulating tumor DNA technology as a cancer diagnostic tool. Cureus. 2019;11(6):e4907. doi: 10.7759/cureus.4907.
  • Wan JCM, Heider K, Gale D, et al. ctDNA monitoring using patient-specific sequencing and integration of variant reads. Sci Transl Med. 2020;12(548):eaaz8084. doi: 10.1126/scitranslmed.aaz8084.
  • Malapelle U, Sirera R, Jantus-Lewintre E, et al. Profile of the Roche cobas® EGFR mutation test v2 for non-small cell lung cancer. Expert Rev Mol Diagn. 2017 Mar;17(3):209–215. Erratum in: Expert Rev Mol Diagn. 2017;17 (3):i. doi: 10.1080/14737159.2017.1288568.
  • Cohen JD, Li L, Wang Y, et al. Detection and localization of surgically resectable cancers with a multi-analyte blood test. Science. 2018;359(6378):926–930. doi: 10.1126/science.aar3247.
  • Saha S, Araf Y, Promon SK. Circulating tumor DNA in cancer diagnosis, monitoring, and prognosis. J Egypt Natl Canc Inst. 2022;34(1):8. doi: 10.1186/s43046-022-00109-4.
  • Pantel K, Alix-Panabières C. Liquid biopsy and minimal residual disease - latest advances and implications for cure. Nat Rev Clin Oncol. 2019;16(7):409–424. doi: 10.1038/s41571-019-0187-3.
  • Peng Y, Mei W, Ma K, et al. Circulating tumor DNA and minimal residual disease (MRD) in solid tumors: current horizons and future perspectives. Front Oncol. 2021;11:763790. doi: 10.3389/fonc.2021.763790.
  • Garcia-Murillas I, Schiavon G, Weigelt B, et al. Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer. Sci Transl Med. 2015;7(302):302ra133.
  • Parikh AR, Van Seventer EE, Siravegna G, et al. Minimal residual disease detection using a plasma-only circulating tumor DNA assay in patients with colorectal cancer. Clin Cancer Res. 2021;27(20):5586–5594. doi: 10.1158/1078-0432.CCR-21-0410.
  • Abbosh C, Birkbak NJ, Wilson GA, et al. Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution. Nature. 2017;545(7655):446–451. Erratum in: Nature. 2017. doi: 10.1038/nature22364.
  • Christensen E, Birkenkamp-Demtröder K, Sethi H, et al. Early detection of metastatic relapse and monitoring of therapeutic efficacy by ultra-deep sequencing of plasma cell-free DNA in patients with urothelial bladder carcinoma. J Clin Oncol. 2019;37(18):1547–1557. doi: 10.1200/JCO.18.02052.
  • Ng SB, Chua C, Ng M, et al. Individualised multiplexed circulating tumour DNA assays for monitoring of tumour presence in patients after colorectal cancer surgery. Sci Rep. 2017;7:40737. doi: 10.1038/srep40737.
  • Moding EJ, Nabet BY, Alizadeh AA, et al. Detecting liquid remnants of solid tumors: circulating tumor DNA minimal residual disease. Cancer Discov. 2021;11(12):2968–2986. doi: 10.1158/2159-8290.CD-21-0634.
  • Kurtz DM, Soo J, Co Ting Keh L, et al. Enhanced de­tection of minimal residual disease by targeted sequencing of phased variants in circulating tumor DNA. Nat Biotechnol. 2021;39(12):1537–1547. doi: 10.1038/s41587-021-00981-w.
  • Moding EJ, Liu Y, Nabet BY, et al. Circulating tumor DNA dynamics predict benefit from consolidation immunotherapy in locally advanced non-small cell lung cancer. Nat Cancer. 2020;1(2):176–183. doi: 10.1038/s43018-019-0011-0.
  • Raycheva GA, Ivanov HY, Grudeva-Popova ZG. Liquid biopsy - possibilities for monitoring the therapeutic response in non-small cell lung cancer. Folia Med. 2021;63(6):839–846. doi: 10.3897/folmed.63.e68216.
  • Miteva-Marcheva N, Ivanov H, Popov V, et al. Liquid biopsy: an innovative and reliable method for detecting not only somatic, but also germline mutations in patients with colorectal and non-small cell lung carcinoma. Biotechnol Biotechnol Equip. 2023;37(1):1. doi: 10.1080/13102818.2023.2249560.
  • Loft M, Jalali A, Gibbs P, et al. Circulating tumor DNA in colorectal cancer—from concept to clinic. Oncol Hematol Rev. 2019;15(1):33–38. doi: 10.17925/OHR.2019.15.1.33.
  • Qiu J, Xu J, Zhang K, et al. Refining cancer management using integrated liquid biopsy. Theranostics. 2020;10(5):2374–2384. doi: 10.7150/thno.40677.