DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations

dc.contributorA. C. Camargo Cancer Center
dc.contributorUniversidade Estadual Paulista (Unesp)
dc.contributorUniversidade de São Paulo (USP)
dc.creatorFortes, Fernanda Paschoal
dc.creatorKuasne, Hellen [UNESP]
dc.creatorMarchi, Fabio Albuquerque
dc.creatorMiranda, Priscila Mayrink
dc.creatorRogatto, Silvia Regina [UNESP]
dc.creatorAchatz, Maria Isabel
dc.date2015-10-21T13:09:36Z
dc.date2015-10-21T13:09:36Z
dc.date2015-06-01
dc.date.accessioned2023-09-12T06:33:54Z
dc.date.available2023-09-12T06:33:54Z
dc.identifierhttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2015000700610&lng=en&nrm=iso&tlng=en
dc.identifierBrazilian Journal Of Medical And Biological Research. Sao Paulo: Assoc Bras Divulg Cientifica, v. 48, n. 7, p. 610-615, 2015.
dc.identifier0100-879X
dc.identifierhttp://hdl.handle.net/11449/128403
dc.identifier10.1590/1414-431X20154026
dc.identifierS0100-879X2015000700610
dc.identifierWOS:000357743700005
dc.identifierS0100-879X2015000700610.pdf
dc.identifier2259986546265579
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8777754
dc.descriptionLi-Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary cancer predisposition disorder. In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndrome. The occurrence of cancer and age of disease onset are known to vary, even in patients carrying the same mutation, and several mechanisms such as genetic and epigenetic alterations may be involved in this variability. However, the extent of involvement of such events has not been clarified. It is well established that p53 regulates several pathways, including the thymine DNA glycosylase (TDG) pathway, which regulates the DNA methylation of several genes. This study aimed to identify the DNA methylation pattern of genes potentially related to the TDG pathway (CDKN2A, FOXA1, HOXD8, OCT4, SOX2, and SOX17) in 30 patients with germline TP53 mutations, 10 patients with wild-type TP53, and 10 healthy individuals. We also evaluated TDG expression in patients with adrenocortical tumors (ADR) with and without the p.R337H TP53 mutation. Gene methylation patterns of peripheral blood DNA samples assessed by pyrosequencing revealed no significant differences between the three groups. However, increased TDG expression was observed by quantitative reverse transcription PCR in p.R337H carriers with ADR. Considering the rarity of this phenotype and the relevance of these findings, further studies using a larger sample set are necessary to confirm our results.
dc.descriptionNational Institute of Science and Technology in Oncogenomics (INCITO)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionA. C. Camargo Cancer Center, Laboratório de Oncogenética Molecular
dc.descriptionA. C. Camargo Cancer Center, Laboratrio NeoGene
dc.descriptionA. C. Camargo Cancer Center, Departamento de Oncogenética
dc.descriptionUniversidade de São Paulo, Instituto de Matemática e Estatística
dc.descriptionUniversidade Estadual Paulista, Departamento de Urologia, Faculdade de Medicina de Botucatu
dc.descriptionINCITO: 573589/2008-9
dc.descriptionCNPq: 830068/2001-5
dc.format610-615
dc.languageeng
dc.publisherAssoc Bras Divulg Cientifica
dc.relationBrazilian Journal Of Medical And Biological Research
dc.relation1.492
dc.rightsAcesso aberto
dc.sourceWeb of Science
dc.subjectLi-Fraumeni syndrome
dc.subjectTP53 gene
dc.subjectTDG
dc.subjectMethylation
dc.titleDNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations
dc.typeArtigo


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