{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T20:44:22Z","timestamp":1791233062799,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T00:00:00Z","timestamp":1544140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1117911"],"award-info":[{"award-number":["1117911"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001170","name":"Cancer Council Western Australia","doi-asserted-by":"publisher","award":["1100249"],"award-info":[{"award-number":["1100249"]}],"id":[{"id":"10.13039\/501100001170","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["febs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molecular Oncology"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:p>\n                    Circulating tumor\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    (ct\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    ) may serve as a surrogate to tissue biopsy for noninvasive identification of mutations across multiple genetic loci and for disease monitoring in melanoma. In this study, we compared the mutation profiles of tumor biopsies and plasma ct\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    from metastatic melanoma\u00a0patients using custom sequencing panels targeting 30 melanoma\u2010associated genes. Somatic mutations were identified in 20 of 24 melanoma biopsies, and 16 of 20 (70%) matched\u2010patient plasmas had detectable ct\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    . In a subgroup of seven patients for whom matching tumor tissue and plasma were sequenced, 80% of the mutations found in tumor tissue were also detected in ct\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    . However,\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">TERT<\/jats:styled-content>\n                    <\/jats:italic>\n                    promoter mutations were only detected by dd\n                    <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>\n                    , and promoter mutations were consistently found at lower concentrations than other driver mutations in longitudinal samples.\n                    <jats:italic>In\u00a0vitro<\/jats:italic>\n                    experiments revealed that mutations in promoter regions of\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">TERT<\/jats:styled-content>\n                    <\/jats:italic>\n                    and\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">DPH<\/jats:styled-content>\n                      3\n                    <\/jats:italic>\n                    are underrepresented in ct\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    . While the results underscore the utility of using ct\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    as an alternative to tissue biopsy for genetic profiling and surveillance of the disease, our study highlights the underrepresentation of promoter mutations in ct\n                    <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\n                    and its potential impact on quantitative liquid biopsy applications.\n                  <\/jats:p>","DOI":"10.1002\/1878-0261.12391","type":"journal-article","created":{"date-parts":[[2018,10,12]],"date-time":"2018-10-12T12:03:52Z","timestamp":1539345832000},"page":"171-184","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Locus\u2010specific concordance of genomic alterations between tissue and plasma circulating tumor\n                    <scp>DNA<\/scp>\n                    in 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