Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/109926
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dc.contributor.authorCrespo, Inês-
dc.contributor.authorTão, Hermínio-
dc.contributor.authorNieto, Ana Belen-
dc.contributor.authorRebelo, Olinda-
dc.contributor.authorDomingues, Patrícia-
dc.contributor.authorVital, Ana Luísa-
dc.contributor.authorPatino, Maria del Carmen-
dc.contributor.authorBarbosa, Marcos-
dc.contributor.authorLopes, M. C.-
dc.contributor.authorOliveira, C. R.-
dc.contributor.authorOrfão, Alberto-
dc.contributor.authorTabernero, María Dolores-
dc.date.accessioned2023-11-07T11:10:18Z-
dc.date.available2023-11-07T11:10:18Z-
dc.date.issued2012-
dc.identifier.issn1932-6203pt
dc.identifier.urihttp://hdl.handle.net/10316/109926-
dc.description.abstractBackground: Glioblastoma multiforme (GBM) displays multiple amplicons and homozygous deletions that involve relevant pathogenic genes and other genes whose role remains unknown. Methodology: Single-nucleotide polymorphism (SNP)-arrays were used to determine the frequency of recurrent amplicons and homozygous deletions in GBM (n = 46), and to evaluate the impact of copy number alterations (CNA) on mRNA levels of the genes involved. Principal Findings: Recurrent amplicons were detected for chromosomes 7 (50%), 12 (22%), 1 (11%), 4 (9%), 11 (4%), and 17 (4%), whereas homozygous deletions involved chromosomes 9p21 (52%) and 10q (22%). Most genes that displayed a high correlation between DNA CNA and mRNA levels were coded in the amplified chromosomes. For some amplicons the impact of DNA CNA on mRNA expression was restricted to a single gene (e.g., EGFR at 7p11.2), while for others it involved multiple genes (e.g., 11 and 5 genes at 12q14.1–q15 and 4q12, respectively). Despite homozygous del(9p21) and del(10q23.31) included multiple genes, association between these DNA CNA and RNA expression was restricted to the MTAP gene. Conclusions: Overall, our results showed a high frequency of amplicons and homozygous deletions in GBM with variable impact on the expression of the genes involved, and they contributed to the identification of other potentially relevant genes.pt
dc.language.isoengpt
dc.publisherPublic Library of Sciencept
dc.relationFCT PIC/IC/83108/2007pt
dc.relationSFRH/BD/23086/2005pt
dc.relationSFRH/BD/11820/2003pt
dc.relationFundación Mutua Madrileña, Madrid, Spain [AP87692011pt
dc.relationInstituto de Salud Carlos III, Ministerio de Ciencia e Innovacio´ n, Madrid, Spain [RTICC RD06/0020/0035pt
dc.rightsopenAccesspt
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt
dc.titleAmplified and Homozygously Deleted Genes in Glioblastoma: Impact on Gene Expression Levelspt
dc.typearticle-
degois.publication.firstPagee46088pt
degois.publication.issue9pt
degois.publication.titlePLoS ONEpt
dc.peerreviewedyespt
dc.identifier.doi10.1371/journal.pone.0046088pt
degois.publication.volume7pt
dc.date.embargo2012-01-01*
uc.date.periodoEmbargo0pt
item.cerifentitytypePublications-
item.languageiso639-1en-
item.fulltextCom Texto completo-
item.grantfulltextopen-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypearticle-
crisitem.author.researchunitCNC - Center for Neuroscience and Cell Biology-
crisitem.author.orcid0000-0002-6469-0894-
crisitem.author.orcid0000-0001-6942-4328-
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais
FFUC- Artigos em Revistas Internacionais
I&D CNC - Artigos em Revistas Internacionais
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This item is licensed under a Creative Commons License Creative Commons