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dc.contributor.authorMOSQUERA ORGUEIRA, ADRIAN 
dc.contributor.authorAntelo Rodríguez, Beatriz
dc.contributor.authorAlonso Vence, Natalia 
dc.contributor.authorDíaz Arias, José 
dc.contributor.authorDíaz Varela, Nicolás 
dc.contributor.authorPérez Encinas, Manuel Mateo 
dc.contributor.authorAllegue Toscano, C.
dc.contributor.authorGoiricelaya Seco, E. M.
dc.contributor.authorCarracedo Álvarez, Ángel
dc.contributor.authorBello López, José Luis 
dc.date.accessioned2021-11-30T11:11:51Z
dc.date.available2021-11-30T11:11:51Z
dc.date.issued2019
dc.identifier.issn1471-2407
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542042/pdf/12885_2019_Article_5628.pdfes
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/31142279es
dc.identifier.urihttp://hdl.handle.net/20.500.11940/15774
dc.description.abstractBACKGROUND: Chronic Lymphocytic Leukemia (CLL) is the most frequent lymphoproliferative disorder in western countries and is characterized by a remarkable clinical heterogeneity. During the last decade, multiple genomic studies have identified a myriad of somatic events driving CLL proliferation and aggressivity. Nevertheless, and despite the mounting evidence of inherited risk for CLL development, the existence of germline variants associated with clinical outcomes has not been addressed in depth. METHODS: Exome sequencing data from control leukocytes of CLL patients involved in the International Cancer Genome Consortium (ICGC) was used for genotyping. Cox regression was used to detect variants associated with clinical outcomes. Gene and pathways level associations were also calculated. RESULTS: Single nucleotide polymorphisms in PPP4R2 and MAP3K4 were associated with earlier treatment need. A gene-level analysis evidenced a significant association of RIPK3 with both treatment need and survival. Furthermore, germline variability in pathways such as apoptosis, cell-cycle, pentose phosphate, GNalpha13 and Nitric oxide was associated with overall survival. CONCLUSION: Our results support the existence of inherited conditionants of CLL evolution and points towards genes and pathways that may results useful as biomarkers of disease outcome. More research is needed to validate these findings.en
dc.language.isoenges
dc.rightsAtribución 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subject.meshPhosphoprotein Phosphatases*
dc.subject.meshGTP-Binding Protein alpha Subunits*
dc.subject.meshSurvival Analysis*
dc.subject.meshMAP Kinase Kinase Kinase 4*
dc.subject.meshHumans*
dc.subject.meshAssociation*
dc.subject.meshLeukemia*
dc.subject.meshGerm-Line Mutation*
dc.subject.meshGenetic Predisposition to Disease*
dc.subject.meshPrognosis*
dc.subject.meshGene Regulatory Networks*
dc.titleThe association of germline variants with chronic lymphocytic leukemia outcome suggests the implication of novel genes and pathways in clinical evolutionen
dc.typeArtigoes
dc.authorsophosMosquera Orgueira, A.
dc.authorsophosAntelo Rodríguez, B.
dc.authorsophosAlonso Vence, N.
dc.authorsophosDíaz Arias, J. Á
dc.authorsophosDíaz Varela, N.
dc.authorsophosPérez Encinas, M. M.
dc.authorsophosAllegue Toscano, C.
dc.authorsophosGoiricelaya Seco, E. M.
dc.authorsophosCarracedo Álvarez, Á
dc.authorsophosBello López, J. L.
dc.identifier.doi10.1186/s12885-019-5628-y
dc.identifier.pmid31142279
dc.identifier.sophos31789
dc.issue.number1es
dc.journal.titleBMC CANCERes
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Hematoloxía clínicaes
dc.page.initial515es
dc.rights.accessRightsopenAccesses
dc.subject.decsMAP cinasa cinasa cinasa 4*
dc.subject.decspronóstico*
dc.subject.decssubunidades alfa de las proteínas de unión al GTP*
dc.subject.decshumanos*
dc.subject.decsanálisis de supervivencia*
dc.subject.decsfosfoproteína fosfatasas*
dc.subject.decsleucemia*
dc.subject.decsasociación*
dc.subject.decspredisposición genética a la enfermedad*
dc.subject.decsmutación de la línea germinal*
dc.subject.decsredes génicas reguladoras*
dc.subject.keywordCHUSes
dc.typefidesArtículo Originales
dc.typesophosArtículo Originales
dc.volume.number19es


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