Identification of circulating tumor DNA for the early detection of small-cell lung cancer

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dc.contributor.authorFernandez-Cuesta, Lynnette
dc.contributor.authorAvogbe, Patrice Hodonou
dc.contributor.authorLeblay, Noemie
dc.contributor.authorDelhomme, Tiffany M.
dc.contributor.authorGaborieau, Valerie
dc.contributor.authorAbedi-Ardekani, Behnoush
dc.contributor.authorChanudet, Estelle
dc.contributor.authorOlivier, Magali
dc.contributor.authorZaridze, David
dc.contributor.authorMukeria, Anush
dc.contributor.authorVilensky, Marta
dc.contributor.authorHolcatova, Ivana
dc.contributor.authorPolesel, Jerry
dc.contributor.authorSimonato, Lorenzo
dc.contributor.authorCanova, Cristina
dc.contributor.authorLagiou, Pagona
dc.contributor.authorBrambilla, Christian
dc.contributor.authorByrnes, Graham
dc.contributor.authorScelo, Ghislaine
dc.contributor.authorLe Calvez-Kelm, Florence
dc.contributor.authorMcKay, James D.
dc.contributor.authorBrennan, Paul
dc.contributor.authorBrambilla, Elisabeth
dc.contributor.authorPerdomo Lara, Sandra Janneth
dc.contributor.orcidPerdomo Lara, Sandra Janneth [0000-0002-4429-3760]
dc.date.accessioned2019-08-14T17:08:51Z
dc.date.available2019-08-14T17:08:51Z
dc.date.issued2016
dc.description.abstractenglishCirculating tumor DNA (ctDNA) is emerging as a key potential biomarker for post-diagnosis surveillance but it may also play a crucial role in the detection of pre-clinical cancer. Small-cell lung cancer (SCLC) is an excellent candidate for early detection given there are no successful therapeutic options for late-stage disease, and it displays almost universal inactivation of TP53. We assessed the presence of TP53 mutations in the cell-free DNA (cfDNA) extracted from the plasma of 51 SCLC cases and 123 non-cancer controls. We identified mutations using a pipeline specifically designed to accurately detect variants at very low fractions. We detected TP53 mutations in the cfDNA of 49% SCLC patients and 11.4% of non-cancer controls. When stratifying the 51 initial SCLC cases by stage, TP53 mutations were detected in the cfDNA of 35.7% early-stage and 54.1% late-stage SCLC patients. The results in the controls were further replicated in 10.8% of an independent series of 102 non-cancer controls. The detection of TP53 mutations in 11% of the 225 non-cancer controls suggests that somatic mutations in cfDNA among individuals without any cancer diagnosis is a common occurrence, and poses serious challenges for the development of ctDNA screening tests.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.ebiom.2016.06.032
dc.identifier.instnameinstname:Universidad El Bosquespa
dc.identifier.issn2352-3964
dc.identifier.reponamereponame:Repositorio Institucional Universidad El Bosquespa
dc.identifier.repourlrepourl:https://repositorio.unbosque.edu.co
dc.identifier.urihttps://hdl.handle.net/20.500.12495/1611
dc.language.isoeng
dc.publisherElsevierspa
dc.publisher.journalEBioMedicinespa
dc.relation.ispartofseriesEBioMedicine, 2352-3964, Vol. 10, August, 2016, p.117-123spa
dc.relation.urihttps://www.sciencedirect.com/science/article/pii/S2352396416302894?via%3Dihub
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International*
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.accessrightshttps://purl.org/coar/access_right/c_abf428
dc.rights.creativecommons2016
dc.rights.localAcceso abiertospa
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectSmall-Cell lung cancerspa
dc.subjectTP53 mutationsspa
dc.subjectEarly detectionspa
dc.subjectScreeningspa
dc.subject.decsÁcidos nucleicos libres de célulasspa
dc.subject.decsADN tumoral circulantespa
dc.subject.decsCarcinoma pulmonar de células pequeñasspa
dc.subject.decsGenes supresores de tumorspa
dc.subject.decsDiagnóstico precozspa
dc.titleIdentification of circulating tumor DNA for the early detection of small-cell lung cancerspa
dc.typearticlespa
dc.type.hasversioninfo:eu-repo/semantics/publishedVersion
dc.type.localartículospa

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