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The circulating transcriptome as a source of biomarkers for melanoma

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dc.contributor.author Solé, Carla
dc.contributor.author Tramonti, Daniela
dc.contributor.author Schramm, Maike
dc.contributor.author Goicoechea, Ibai
dc.contributor.author Armesto, María
dc.contributor.author Hernandez, Luiza I.
dc.contributor.author Manterola, Lorea
dc.contributor.author Fernandez-Mercado, Marta
dc.contributor.author Mujika, Karmele
dc.contributor.author Tuneu, Anna
dc.contributor.author Jaka, Ane
dc.contributor.author Tellaetxe, Maitena
dc.contributor.author Friedländer, Marc R.
dc.contributor.author Estivill, Xavier, 1955-
dc.contributor.author Piazza, Paolo
dc.contributor.author Ortiz-Romero, Pablo L.
dc.contributor.author Middleton, Mark R.
dc.contributor.author Lawrie, Charles H.
dc.date.accessioned 2019-03-07T08:24:49Z
dc.date.available 2019-03-07T08:24:49Z
dc.date.issued 2019
dc.identifier.citation Solé C, Tramonti D, Schramm M, Goicoechea I, Armesto M, Hernandez LI, Manterola L, Fernandez-Mercado M, Mujika K, Tuneu A, Jaka A, Tellaetxe M, Friedländer MR, Estivill X, Piazza P, Ortiz-Romero PL, Middleton MR, Lawrie CH. The circulating transcriptome as a source of biomarkers for melanoma. Cancers (Basel). 2019; 11(1). pii: E70. DOI 10.3390/cancers11010070
dc.identifier.issn 2072-6694
dc.identifier.uri http://hdl.handle.net/10230/36773
dc.description.abstract The circulating transcriptome is a valuable source of cancer biomarkers, which, with the exception of microRNAs (miRNAs), remains relatively unexplored. To elucidate which RNAs are present in plasma from melanoma patients and which could be used to distinguish cancer patients from healthy individuals, we used next generation sequencing (NGS), and validation was carried out by qPCR and/or ddPCR. We identified 442 different microRNAs in samples, eleven of which were differentially expressed (p < 0.05). Levels of miR-134-5p and miR-320a-3p were significantly down-regulated (p < 0.001) in melanoma samples (n = 96) compared to healthy controls (n = 28). Differentially expressed protein-encoding mRNA 5'-fragments were enriched for the angiopoietin, p21-activated kinase (PAK), and EIF2 pathways. Levels of ATM1, AMFR, SOS1, and CD109 gene fragments were up-regulated (p < 0.001) in melanoma samples (n = 144) compared to healthy controls (n = 41) (AUC = 0.825). Over 40% of mapped reads were YRNAs, a class of non-coding RNAs that to date has been little explored. Expression levels of RNY3P1, RNY4P1, and RNY4P25 were significantly higher in patients with stage 0 disease than either healthy controls or more advanced stage disease (p < 0.001). In conclusion, we have identified a number of novel RNA biomarkers, which, most importantly, we validated in multi-center retrospective and prospective cohorts, suggesting potential diagnostic use of these RNA species.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher MDPI
dc.relation.ispartof Cancers (Basel). 2019; 11(1). pii: E70
dc.rights © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title The circulating transcriptome as a source of biomarkers for melanoma
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.3390/cancers11010070
dc.subject.keyword Melanoma
dc.subject.keyword Plasma
dc.subject.keyword Liquid biopsy
dc.subject.keyword miRNA
dc.subject.keyword mRNA
dc.subject.keyword Biomarker
dc.subject.keyword YRNA
dc.subject.keyword RNA species
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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