Genomic analysis of head and neck cancer cases from two high incidence regions

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dc.contributor.authorPerdomo Lara, Sandra Janneth
dc.contributor.authorAnantharaman, Devasena
dc.contributor.authorFoll, Matthieu
dc.contributor.authorDurand, Geoffroy
dc.contributor.authorAbedi-Ardekani, Behnoush
dc.contributor.authorReis Rosa, Luciana Albina
dc.contributor.authorHolmila, Reetta
dc.contributor.authorLe Calvez-Kelm, Florence
dc.contributor.authorTajara, Eloiza H.
dc.contributor.authorWünsch-Filho, Victor
dc.contributor.authorLevi, José Eduardo
dc.contributor.authorVilensky, Marta
dc.contributor.authorPolesel, Jerry
dc.contributor.authorHolcatova, Ivana
dc.contributor.authorSimonato, Lorenzo
dc.contributor.authorCanova, Cristina
dc.contributor.authorLagiou, Pagona
dc.contributor.authorBrennan, Paul
dc.contributor.authorMcKay, James D.
dc.contributor.orcidPerdomo Lara, Sandra Janneth [0000-0002-4429-3760]
dc.date.accessioned2019-09-12T20:12:21Z
dc.date.available2019-09-12T20:12:21Z
dc.date.issued2018
dc.description.abstractenglishWe investigated how somatic changes in HNSCC interact with environmental and host risk factors and whether they influence the risk of HNSCC occurrence and outcome. 180-paired samples diagnosed as HNSCC in two high incidence regions of Europe and South America underwent targeted sequencing (14 genes) and evaluation of copy number alterations (SCNAs). TP53, PIK3CA, NOTCH1, TP63 and CDKN2A were the most frequently mutated genes. Cases were characterized by a low copy number burden with recurrent focal amplification in 11q13.3 and deletion in 15q22. Cases with low SCNAs showed an improved overall survival. We found significant correlations with decreased overall survival between focal amplified regions 4p16, 10q22 and 22q11, and losses in 12p12, 15q14 and 15q22. The mutational landscape in our cases showed an association to both environmental exposures and clinical characteristics. We confirmed that somatic copy number alterations are an important predictor of HNSCC overall survival.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1371/journal.pone.0191701
dc.identifier.instnameinstname:Universidad El Bosquespa
dc.identifier.issn1932-6203
dc.identifier.reponamereponame:Repositorio Institucional Universidad El Bosquespa
dc.identifier.repourlrepourl:https://repositorio.unbosque.edu.co
dc.identifier.urihttps://hdl.handle.net/20.500.12495/1673
dc.language.isoeng
dc.publisherPublic Library of Sciencespa
dc.publisher.journalPlos ONEspa
dc.relation.ispartofseriesPlos ONE, 1932-6203, Vol. 13, Nro. 1, 2018, p. 1-18spa
dc.relation.urihttps://journals.plos.org/plosone/article?id=10.1371/journal.pone.0191701
dc.rightsAttribution 4.0 International*
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.accessrightshttps://purl.org/coar/access_right/c_abf406
dc.rights.creativecommons2018
dc.rights.localAcceso abiertospa
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/*
dc.subject.decsSíntomas sin explicación médicaspa
dc.subject.decsCarcinoma de células escamosasspa
dc.subject.decsNeoplasias de cabeza y cuellospa
dc.titleGenomic analysis of head and neck cancer cases from two high incidence regionsspa
dc.typearticlespa
dc.type.hasversioninfo:eu-repo/semantics/publishedVersion
dc.type.localartículospa

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