Comprehensive genomic profile of heterogeneous long follow-up triple-negative breast cancer and its clinical characteristics shows DNA repair deficiency has better prognostic

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dc.contributor.authorRojas-Jiménez, Ernesto
dc.contributor.authorMejía-Gómez, Javier César
dc.contributor.authorDíaz-Velásquez, Clara Estela
dc.contributor.authorQuezada-Urbán, Rosalía
dc.contributor.authorGregorio, Héctor Martínez
dc.contributor.authorVallejo Lecuona, Fernando
dc.contributor.authorDe La Cruz Montoya, Aldo Hugo
dc.contributor.authorReyes, Fany Iris Porras
dc.contributor.authorPérez-Sánchez, Víctor Manuel
dc.contributor.authorMaldonado-Martinez, Hector Aquiles
dc.contributor.authorRobles-Estrada, Maybelline
dc.contributor.authorBargalló-Rocha, Enrique
dc.contributor.authorCabrera-Galeana, Paula
dc.contributor.authorRamos-Ramírez, Maritza
dc.contributor.authorChirino, Yolanda I
dc.contributor.authorHerrera, Luis Alonso
dc.contributor.authorTerrazas, Luis I.
dc.contributor.authorOliver, Javier
dc.contributor.authorFrecha, Cecilia A.
dc.contributor.authorPerdomo Lara, Sandra Janneth
dc.contributor.authorVaca Paniagua, Felipe
dc.contributor.orcidPerdomo Lara, Sandra Janneth [0000-0002-4429-3760]
dc.date.accessioned2020-12-09T21:32:10Z
dc.date.available2020-12-09T21:32:10Z
dc.date.issued2020
dc.description.abstractenglishTriple-negative breast cancer (TNBC) presents a marked diversity at the molecular level, which promotes a clinical heterogeneity that further complicates treatment. We performed a detailed whole exome sequencing profile of 29 Mexican patients with long follow-up TNBC to identify genomic alterations associated with overall survival (OS), disease-free survival (DFS), and pathologic complete response (PCR), with the aim to define their role as molecular predictive factors of treatment response and prognosis. We detected 31 driver genes with pathogenic mutations in TP53 (53%), BRCA1/2 (27%), CDKN1B (9%), PIK3CA (9%), and PTEN (9%), and 16 operative mutational signatures. Moreover, tumors with mutations in BRCA1/2 showed a trend of sensitivity to platinum salts. We found an association between deficiency in DNA repair and surveillance genes and DFS. Across all analyzed tumors we consistently found a heterogeneous molecular complexity in terms of allelic composition and operative mutational processes, which hampered the definition of molecular traits with clinical utility. This work contributes to the elucidation of the global molecular alterations of TNBC by providing accurate genomic data that may help forthcoming studies to improve treatment and survival. This is the first study that integrates genomic alterations with a long follow-up of clinical variables in a Latin American population that is an underrepresented ethnicity in most of the genomic studies.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.3390/genes11111367
dc.identifier.instnameinstname:Universidad El Bosquespa
dc.identifier.issn2073-4425
dc.identifier.reponamereponame:Repositorio Institucional Universidad El Bosquespa
dc.identifier.repourlrepourl:https://repositorio.unbosque.edu.co
dc.identifier.urihttps://hdl.handle.net/20.500.12495/5187
dc.language.isoeng
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI)spa
dc.publisher.journalGenesspa
dc.relation.ispartofseriesGenes, 2073-4425, Vol. 11, Nro. 11, 2020, p. 1-21spa
dc.relation.urihttps://www.mdpi.com/2073-4425/11/11/1367
dc.rightsAttribution 4.0 International*
dc.rights.accessrightshttps://purl.org/coar/access_right/c_abf2
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.accessrightsAcceso abierto
dc.rights.creativecommons2020-11-19
dc.rights.localAcceso abiertospa
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/*
dc.subject.keywordsTriple-negative breast cancerspa
dc.subject.keywordsWhole exome sequencingspa
dc.subject.keywordsWESspa
dc.subject.keywordsTreatmentspa
dc.subject.keywordsSomatic mutationspa
dc.subject.keywordsMutational signaturesspa
dc.titleComprehensive genomic profile of heterogeneous long follow-up triple-negative breast cancer and its clinical characteristics shows DNA repair deficiency has better prognosticspa
dc.title.translatedComprehensive genomic profile of heterogeneous long follow-up triple-negative breast cancer and its clinical characteristics shows DNA repair deficiency has better prognosticspa
dc.type.coarhttps://purl.org/coar/resource_type/c_6501
dc.type.driverinfo:eu-repo/semantics/article
dc.type.hasversioninfo:eu-repo/semantics/publishedVersion
dc.type.localArtículo de revista

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