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dc.contributor.authorRodríguez Casanova, Aitor
dc.contributor.authorCosta Fraga, Nicolás
dc.contributor.authorCastro-Carballeira, C.
dc.contributor.authorGonzález Conde, Miriam
dc.contributor.authorAbuin, C.
dc.contributor.authorBao Caamaño, Aida
dc.contributor.authorGarcía-Caballero Parada, Tomas 
dc.contributor.authorBrozos Vázquez, Elena María 
dc.contributor.authorRodríguez López, Carmela 
dc.contributor.authorCebey Lopez, Victor
dc.contributor.authorPalacios Ozores, Patricia 
dc.contributor.authorCueva, J.F.
dc.contributor.authorLópez López, Rafael 
dc.contributor.authorCosta Nogueira, Clotilde
dc.contributor.authorDíaz Lagares, Ángel 
dc.date.accessioned2025-08-26T11:36:35Z
dc.date.available2025-08-26T11:36:35Z
dc.date.issued2022
dc.identifier.citationRodriguez-Casanova A, Costa-Fraga N, Castro-Carballeira C, González-Conde M, Abuin C, Bao-Caamano A, et al. A genome-wide cell-free DNA methylation analysis identifies an episignature associated with metastatic luminal B breast cancer. Frontiers in Cell and Developmental Biology. 2022;10.
dc.identifier.issn2296-634X
dc.identifier.otherhttps://portalcientifico.sergas.gal/documentos/637951c60b78045a77807f26*
dc.identifier.urihttp://hdl.handle.net/20.500.11940/20947
dc.description.abstractBreast cancers of the luminal B subtype are frequent tumors with high proliferation and poor prognosis. Epigenetic alterations have been found in breast tumors and in biological fluids. We aimed to profile the cell-free DNA (cfDNA) methylome of metastatic luminal B breast cancer (LBBC) patients using an epigenomic approach to discover potential noninvasive biomarkers. Plasma cfDNA was analyzed using the Infinium MethylationEpic array in a cohort of 14 women, including metastatic LBBC patients and nontumor controls. The methylation levels of cfDNA and tissue samples were validated with droplet digital PCR. The methylation and gene expression data of 582 primary luminal breast tumors and 79 nontumor tissues were obtained from The Cancer Genome Atlas (TCGA). We found an episignature of 1,467 differentially methylated CpGs that clearly identified patients with LBBC. Among the genes identified, the promoter hypermethylation of WNT1 was validated in cfDNA, showing an area under the ROC curve (AUC) of 0.86 for the noninvasive detection of metastatic LBBC. Both paired cfDNA and primary/metastatic breast tumor samples showed hypermethylation of WNT1. TCGA analysis revealed significant WNT1 hypermethylation in the primary tumors of luminal breast cancer patients, with a negative association between WNT1 methylation and gene expression. In this proof-of-principle study, we discovered an episignature associated with metastatic LBBC using a genome-wide cfDNA methylation approach. We also identified the promoter hypermethylation of WNT1 in cfDNA as a potential noninvasive biomarker for luminal breast cancer. Our results support the use of EPIC arrays to identify new epigenetic noninvasive biomarkers in breast cancer.en
dc.description.sponsorshipThis research was funded by Beca FSEOM/FECMA para Proyectos de Investigacion en Cancer de Mama 2017, the Roche-Chus Joint Unit (IN853B 2018/03), Axencia Galega de Innovacion (GAIN), Vicepresidencia Segunda e Conselleria de Economia, Empresa e Innovacion. AR-C is supported by the Roche-Chus Joint Unit (IN853B 2018/03) funded by GAIN, Axencia Galega de Innovacion (GAIN), Vicepresidencia Segunda e Conselleria de Economia, Empresa e Innovacion. NC-F is funded by a predoctoral contract from Xunta de Galicia (IN606A-2020/004). AB-C is funded by a predoctoral contract PFIS (FI19/00240) from Instituto de Salud Carlos III (ISCIII) co-funded by Fondo Social Europeo (FSE). MG-C is supported by Instituto de Salud Carlos III (ISCIII), with the grant FI19/00140, co-financed by the European Regional Development Fund (FEDER). CC is supported by AECC (INVES211437COST). AD-L is funded by a contract Juan Rodes (JR17/00016) from Instituto de Salud Carlos III (ISCIII).en
dc.language.isoeng
dc.rightsAtribución 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleA genome-wide cell-free DNA methylation analysis identifies an episignature associated with metastatic luminal B breast cancer*
dc.typeArticleen
dc.authorsophosRodriguez-Casanova, A. A.
dc.authorsophosCosta-Fraga, N.
dc.authorsophosCastro-Carballeira, C.
dc.authorsophosGonzález-Conde, M.
dc.authorsophosAbuin, C.
dc.authorsophosBao-Caamano, A.
dc.authorsophosGarcía-Caballero, T.
dc.authorsophosBrozos-Vazquez, E.
dc.authorsophosRodriguez-López, C.
dc.authorsophosCebey, V.
dc.authorsophosPalacios, P.
dc.authorsophosCueva, J. F.
dc.authorsophosLópez-López, R.
dc.authorsophosCosta, C.
dc.authorsophosDíaz, Lagares
dc.identifier.doi10.3389/fcell.2022.1016955
dc.identifier.sophos637951c60b78045a77807f26
dc.journal.titleFrontiers in Cell and Developmental Biology*
dc.relation.projectIDBeca FSEOM/FECMA para Proyectos de Investigacion en Cancer de Mama 2017; Roche-Chus Joint Unit [IN853B 2018/03]; Axencia Galega de Innovacion (GAIN), Vicepresidencia Segunda e Conselleria de Economia, Empresa e Innovacion; Roche-Chus Joint Unit - GAIN [IN853B 2018/03]; Xunta de Galicia [IN853B 2018/03]; Instituto de Salud Carlos III (ISCIII) [FI19/00240, INVES211437COST]; European Regional Development Fund (FEDER); AECC [INVES211437COST]
dc.relation.publisherversionhttps://www.frontiersin.org/articles/10.3389/fcell.2022.1016955/pdf;https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2022.1016955/pdfes
dc.rights.accessRightsopenAccess
dc.subject.keywordAS Santiagoes
dc.subject.keywordIDISes
dc.subject.keywordCHUSes
dc.typefidesArtículo Científico (incluye Original, Original breve, Revisión Sistemática y Meta-análisis)es
dc.typesophosArtículo Originales
dc.volume.number10


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