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A genome-wide cell-free DNA methylation analysis identifies an episignature associated with metastatic luminal B breast cancer
dc.contributor.author | Rodríguez Casanova, Aitor | |
dc.contributor.author | Costa Fraga, Nicolás | |
dc.contributor.author | Castro-Carballeira, C. | |
dc.contributor.author | González Conde, Miriam | |
dc.contributor.author | Abuin, C. | |
dc.contributor.author | Bao Caamaño, Aida | |
dc.contributor.author | García-Caballero Parada, Tomas | |
dc.contributor.author | Brozos Vázquez, Elena María | |
dc.contributor.author | Rodríguez López, Carmela | |
dc.contributor.author | Cebey Lopez, Victor | |
dc.contributor.author | Palacios Ozores, Patricia | |
dc.contributor.author | Cueva, J.F. | |
dc.contributor.author | López López, Rafael | |
dc.contributor.author | Costa Nogueira, Clotilde | |
dc.contributor.author | Díaz Lagares, Ángel | |
dc.date.accessioned | 2025-08-26T11:36:35Z | |
dc.date.available | 2025-08-26T11:36:35Z | |
dc.date.issued | 2022 | |
dc.identifier.citation | Rodriguez-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.issn | 2296-634X | |
dc.identifier.other | https://portalcientifico.sergas.gal/documentos/637951c60b78045a77807f26 | * |
dc.identifier.uri | http://hdl.handle.net/20.500.11940/20947 | |
dc.description.abstract | Breast 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.sponsorship | This 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.iso | eng | |
dc.rights | Atribución 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.title | A genome-wide cell-free DNA methylation analysis identifies an episignature associated with metastatic luminal B breast cancer | * |
dc.type | Article | en |
dc.authorsophos | Rodriguez-Casanova, A. A. | |
dc.authorsophos | Costa-Fraga, N. | |
dc.authorsophos | Castro-Carballeira, C. | |
dc.authorsophos | González-Conde, M. | |
dc.authorsophos | Abuin, C. | |
dc.authorsophos | Bao-Caamano, A. | |
dc.authorsophos | García-Caballero, T. | |
dc.authorsophos | Brozos-Vazquez, E. | |
dc.authorsophos | Rodriguez-López, C. | |
dc.authorsophos | Cebey, V. | |
dc.authorsophos | Palacios, P. | |
dc.authorsophos | Cueva, J. F. | |
dc.authorsophos | López-López, R. | |
dc.authorsophos | Costa, C. | |
dc.authorsophos | Díaz, Lagares | |
dc.identifier.doi | 10.3389/fcell.2022.1016955 | |
dc.identifier.sophos | 637951c60b78045a77807f26 | |
dc.journal.title | Frontiers in Cell and Developmental Biology | * |
dc.relation.projectID | Beca 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.publisherversion | https://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/pdf | es |
dc.rights.accessRights | openAccess | |
dc.subject.keyword | AS Santiago | es |
dc.subject.keyword | IDIS | es |
dc.subject.keyword | CHUS | es |
dc.typefides | Artículo Científico (incluye Original, Original breve, Revisión Sistemática y Meta-análisis) | es |
dc.typesophos | Artículo Original | es |
dc.volume.number | 10 |
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