Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/46233

Full metadata record
DC FieldValueLanguage
dc.contributor.authorCampanella, Nathália C.por
dc.contributor.authorPenna, Valterpor
dc.contributor.authorAbrahão-Machado, Lucas Fariapor
dc.contributor.authorCruvinel-Carloni, Adrianapor
dc.contributor.authorRibeiro, Guilhermepor
dc.contributor.authorSoares, Paulapor
dc.contributor.authorScapulatempo-Neto, Cristovampor
dc.contributor.authorReis, R. M.por
dc.date.accessioned2017-07-20T11:04:06Z-
dc.date.issued2016-
dc.identifier.issn0393-6155por
dc.identifier.urihttp://hdl.handle.net/1822/46233-
dc.description.abstractIntroduction Oncogenic hotspot mutations in the promoter region of the TERT gene have been identified in several cancer types as being associated with a worse outcome. Additionally, a polymorphism (rs2853669) in the TERT promoter region was reported to modify the survival of TERT-mutated patients. Our aim is to determine the frequency of c.-124 C>T and c.-146 C>T TERT mutations and to genotype the rs2853669 polymorphism in a series of 68 soft tissue sarcomas (STS) comprising 22 histological subtypes. Methods PCR was performed, followed by direct sequencing of a fragment of TERT containing the hotspots and the rs2853669. Results We found TERT mutations in 4/68 (5.9%) STSs including 1 pleomorphic liposarcoma (1/1), 1 dedifferentiated liposarcoma (1/1) and 2 myxoid liposarcomas (2/9). The variant C allele of rs2853669 was found in 54.8% (34/62) of all STSs and in 75% (3/4) of TERT-mutated cases. TERT mutations were associated with younger age, and the C allele of the rs2853669 was associated with high histological grade (2 and 3). No association was found between TERT mutation status or rs2853669 genotype and patient prognosis. Conclusions We showed that TERT promoter mutation is not a recurrent event in STS and is present in particular histological subtypes.por
dc.description.sponsorshipThis project was partially supported by Barretos Cancer Hospital Internal Research Funds (PAIP) and CNPq Universal Grant (476192/2013-7) to Rui Manuel Reis. Nathália Cristina Campanella is the recipient of a FAPESP doctoral fellowship (2013/25787-3).por
dc.language.isoengpor
dc.publisherWichtigpor
dc.rightsclosedAccesspor
dc.subjectTERTpor
dc.subjectMutationspor
dc.subjectPolymorphismpor
dc.subjectSoft tissue sarcomaspor
dc.subjectLiposarcomapor
dc.titleTERT promoter mutations in soft tissue sarcomaspor
dc.typearticle-
dc.peerreviewedyespor
dc.relation.publisherversionhttp://www.biological-markers.com/article/tert-promoter-mutations-in-soft-tissue-sarcomaspor
oaire.citationStartPagee62por
oaire.citationEndPagee67por
oaire.citationIssue1por
oaire.citationTitleinternational Journal of Biological Markerspor
oaire.citationVolume31por
dc.date.updated2017-07-20T09:27:16Z-
dc.identifier.essn1724-6008por
dc.identifier.doi10.5301/jbm.5000168por
dc.identifier.pmid26391479por
dc.description.publicationversioninfo:eu-repo/semantics/publishedVersionpor
dc.subject.wosScience & Technologypor
sdum.journalinternational Journal of Biological Markerspor
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

Files in This Item:
File Description SizeFormat 
jbm-d-15-00099.pdf
  Restricted access
1,09 MBAdobe PDFView/Open

Partilhe no FacebookPartilhe no TwitterPartilhe no DeliciousPartilhe no LinkedInPartilhe no DiggAdicionar ao Google BookmarksPartilhe no MySpacePartilhe no Orkut
Exporte no formato BibTex mendeley Exporte no formato Endnote Adicione ao seu ORCID