{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T06:06:27Z","timestamp":1780380387942,"version":"3.54.1"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2021,1,13]],"date-time":"2021-01-13T00:00:00Z","timestamp":1610496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>With the advent of precision oncology, liquid biopsies are quickly gaining acceptance in the clinical setting. However, in some cases, the amount of DNA isolated is insufficient for Next-Generation Sequencing (NGS) analysis. The nCounter platform could be an alternative, but it has never been explored for detection of clinically relevant alterations in fluids.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Circulating-free DNA (cfDNA) was purified from blood, cerebrospinal fluid, and ascites of patients with cancer and analyzed with the nCounter 3\u2009D Single Nucleotide Variant (SNV) Solid Tumor Panel, which allows for detection of 97 driver mutations in 24 genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Validation experiments revealed that the nCounter SNV panel could detect mutations at allelic fractions of 0.02\u20132% in samples with \u22655\u2009pg mutant DNA\/\u00b5L. In a retrospective analysis of 70 cfDNAs from patients with cancer, the panel successfully detected EGFR, KRAS, BRAF, PIK3CA, and NRAS mutations when compared with previous genotyping in the same liquid biopsies and paired tumor tissues [Cohen kappa of 0.96 (CI\u2009=\u20090.92\u20131.00) and 0.90 (CI\u2009=\u20090.74\u20131.00), respectively]. In a prospective study including 91 liquid biopsies from patients with different malignancies, 90 yielded valid results with the SNV panel and mutations in EGFR, KRAS, BRAF, PIK3CA, TP53, NFE2L2, CTNNB1, ALK, FBXW7, and PTEN were found. Finally, serial liquid biopsies from a patient with NSCLC revealed that the semiquantitative results of the mutation analysis by the SNV panel correlated with the evolution of the disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The nCounter platform requires less DNA than NGS and can be employed for routine mutation testing in liquid biopsies of patients with cancer.<\/jats:p><\/jats:sec>","DOI":"10.1093\/clinchem\/hvaa248","type":"journal-article","created":{"date-parts":[[2020,10,31]],"date-time":"2020-10-31T12:11:23Z","timestamp":1604146283000},"page":"554-563","source":"Crossref","is-referenced-by-count":16,"title":["Multiplex Detection of Clinically Relevant Mutations in Liquid Biopsies of Cancer Patients Using a Hybridization-Based Platform"],"prefix":"10.1093","volume":"67","author":[{"given":"Ana","family":"Gim\u00e9nez-Capit\u00e1n","sequence":"first","affiliation":[{"name":"Pangaea Oncology, Laboratory of Oncology, Quir\u00f3n Dexeus 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Quir\u00f3n Dexeus University Hospital, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s","family":"Aguilar","sequence":"additional","affiliation":[{"name":"Dr Rosell Oncology Institute, Quir\u00f3n Dexeus University Hospital, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana-Gabriela","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Medical Oncology Service, Hospital de Sant Pau, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Johnson","sequence":"additional","affiliation":[{"name":"NanoString Technologies, Seattle, WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung-Ying","family":"Huang","sequence":"additional","affiliation":[{"name":"NanoString Technologies, Seattle, WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jay L","family":"Gerlach","sequence":"additional","affiliation":[{"name":"NanoString Technologies, Seattle, WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Warren","sequence":"additional","affiliation":[{"name":"NanoString Technologies, Seattle, WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph M","family":"Beechem","sequence":"additional","affiliation":[{"name":"NanoString Technologies, Seattle, WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Teixid\u00f3","sequence":"additional","affiliation":[{"name":"Department of Pathology, Thoracic Oncology Unit, Hospital Cl\u00ednic, Barcelona, Spain"},{"name":"Translational Genomics and Targeted Therapeutics in Solid Tumors, Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Rosell","sequence":"additional","affiliation":[{"name":"Dr 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