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BRAF V600E mutational load as a prognosis biomarker in malignant melanoma

dc.contributor.authorSevilla Mambrilla, Arrate ORCID
dc.contributor.authorMorales González, María Celia
dc.contributor.authorEzcurra García Unzueta, Pilar Ariadna ORCID
dc.contributor.authorRasero, Javier
dc.contributor.authorVelasco, Verónica
dc.contributor.authorCancho Galán, Goikoane
dc.contributor.authorSánchez Díez, Ana
dc.contributor.authorMujika, Karmele
dc.contributor.authorPenas Lago, Cristina
dc.contributor.authorSmith Zubiaga, Isabel
dc.contributor.authorAsumendi Mallea, Aintzane ORCID
dc.contributor.authorCortés Díaz, Jesús María
dc.contributor.authorBoyano López, María Dolores ORCID
dc.contributor.authorAlonso Alegre, Santos ORCID
dc.date.accessioned2020-06-11T10:47:40Z
dc.date.available2020-06-11T10:47:40Z
dc.date.issued2020-03-13
dc.identifier.citationPlos One 15(3) : (2020) // Article ID e0230136es_ES
dc.identifier.issn1932-6203
dc.identifier.urihttp://hdl.handle.net/10810/43904
dc.description.abstractAnalyzing the mutational load of driver mutations in melanoma could provide valuable information regarding its progression. We aimed at analyzing the heterogeneity of mutational load of BRAF V600E in biopsies of melanoma patients of different stages, and investigating its potential as a prognosis factor. Mutational load of BRAF V600E was analyzed by digital PCR in 78 biopsies of melanoma patients of different stages and 10 nevi. The BRAF V600E load was compared among biopsies of different stages. Results showed a great variability in the load of V600E (0%-81%). Interestingly, we observed a significant difference in the load of V600E between the early and late melanoma stages, in the sense of an inverse correlation between BRAF V600E mutational load and melanoma progression. In addition, a machine learning approach showed that the mutational load of BRAF V600E could be a good predictor of metastasis in stage II patients. Our results suggest that BRAF V600E is a promising biomarker of prognosis in stage II patients.es_ES
dc.description.sponsorshipThis research was supported by the Basque Government (grants ELKARTEK-KK2016-036 and KK2017-041 to MDB, grant IT1138-16 to SA and predoctoral fellowship PRE_2014_1_419 to AS), and by the University of the Basque Country (UPV/EHU) (grant GIU17/066). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.es_ES
dc.language.isoenges_ES
dc.publisherPublic Library Sciencees_ES
dc.rightsinfo:eu-repo/semantics/openAccesses_ES
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/es/*
dc.subjectdigital PCRes_ES
dc.titleBRAF V600E mutational load as a prognosis biomarker in malignant melanomaes_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.holder2020 Sevilla et al. This is an open access article distributed under the terms of the Creative Commons Attribution License,which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.es_ES
dc.rights.holderAtribución 3.0 España*
dc.relation.publisherversionhttps://journals.plos.org/plosone/article?id=10.1371/journal.pone.0230136es_ES
dc.identifier.doi10.1371/journal.pone.0230136
dc.departamentoesBiología celular e histologíaes_ES
dc.departamentoesGenética, antropología física y fisiología animales_ES
dc.departamentoesZoología y biología celular animales_ES
dc.departamentoeuGenetika,antropologia fisikoa eta animalien fisiologiaes_ES
dc.departamentoeuZelulen biologia eta histologiaes_ES
dc.departamentoeuZoologia eta animalia zelulen biologiaes_ES


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2020 Sevilla et al. This is an open access article distributed under the terms of the Creative Commons Attribution License,which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Except where otherwise noted, this item's license is described as 2020 Sevilla et al. This is an open access article distributed under the terms of the Creative Commons Attribution License,which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.