Mostrar el registro sencillo del ítem

dc.contributor.authorBittar, Camila Matzenbacherpt_BR
dc.contributor.authorRocha, Yasminne Marinho de Araújopt_BR
dc.contributor.authorVieira, Igor Araújopt_BR
dc.contributor.authorRosset, Cléviapt_BR
dc.contributor.authorAndreis, Tiago Fingerpt_BR
dc.contributor.authorSartor, Ivaine Tais Sauthierpt_BR
dc.contributor.authorArtigalas, Osvaldo Alfonso Pintopt_BR
dc.contributor.authorNetto, Cristina Brinckmann Oliveirapt_BR
dc.contributor.authorAlemar, Bárbarapt_BR
dc.contributor.authorMacedo, Gabriel de Souzapt_BR
dc.contributor.authorProlla, Patrícia Ashtonpt_BR
dc.date.accessioned2023-08-02T03:32:45Zpt_BR
dc.date.issued2021pt_BR
dc.identifier.issn1932-6203pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/263021pt_BR
dc.description.abstractLi-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome caused by pathogenic germline variants in the TP53 gene, characterized by a predisposition to the development of a broad spectrum of tumors at an early age. The core tumors related to LFS are bone and soft tissue sarcomas, premenopausal breast cancer, brain tumors, adre nocortical carcinomas (ACC), and leukemias. The revised Chompret criteria has been widely used to establish clinical suspicion and support TP53 germline variant testing and LFS diag nosis. Information on TP53 germline pathogenic variant (PV) prevalence when using Chom pret criteria in South America and especially in Brazil is scarce. Therefore, the aim of this study was to characterize patients that fulfilled these specific criteria in southern Brazil, a region known for its high population frequency of a founder TP53 variant c.1010G>A (p. Arg337His), as known as R337H. TP53 germline testing of 191 cancer-affected and indepen dent probands with LFS phenotype identified a heterozygous pathogenic/likely pathogenic variant in 26 (13.6%) probands, both in the DNA binding domain (group A) and in the oligo merization domain (group B) of the gene. Of the 26 carriers, 18 (69.23%) were R337H het erozygotes. Median age at diagnosis of the first tumor in groups A and B differed significantly in this cohort: 22 and 2 years, respectively (P = 0.009). The present study shows the clinical heterogeneity of LFS, highlights particularities of the R337H variant and underscores the need for larger collaborative studies to better define LFS prevalence, clinical spectrum and penetrance of different germline TP53 pathogenic variants.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofPloS one. San Francisco. Vol. 16, no. 9 (Sept. 2021), e0251639, 12 p.pt_BR
dc.rightsOpen Accessen
dc.subjectProteína p53pt_BR
dc.subjectVariação genéticapt_BR
dc.subjectGene TP53pt_BR
dc.titleClinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazilpt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001163340pt_BR
dc.type.originEstrangeiropt_BR


Ficheros en el ítem

Thumbnail
   

Este ítem está licenciado en la Creative Commons License

Mostrar el registro sencillo del ítem