Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma

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dc.citation.issue2
dc.citation.volume13
dc.contributor.authorNascimento, Fabricio P. [UNIFESP]
dc.contributor.authorCardoso, Mirian G. [UNIFESP]
dc.contributor.authorLindsey, Susan C. [UNIFESP]
dc.contributor.authorKunii, Ilda S. [UNIFESP]
dc.contributor.authorValente, Flavia O. F. [UNIFESP]
dc.contributor.authorKizys, Marina M. L. [UNIFESP]
dc.contributor.authorDelcelo, Rosana [UNIFESP]
dc.contributor.authorCamacho, Cleber P. [UNIFESP]
dc.contributor.authorMaciel, Rui M. B. [UNIFESP]
dc.contributor.authorDias-da-Silva, Magnus R. [UNIFESP]
dc.coverageAthens
dc.date.accessioned2020-11-03T14:40:32Z
dc.date.available2020-11-03T14:40:32Z
dc.date.issued2016
dc.description.abstractMedullary thyroid carcinoma (MTC), a neuroendocrine tumor originating from thyroid parafollicular cells, has been demonstrated to be associated with mutations in RET, HRAS, KRAS and NRAS. However, the role of other genes involved in the oncogenesis of neural crest tumors remains to be fully investigated in MTC. The current study aimed to investigate the presence of somatic mutations in BRAF, CDKN2A and PI3KCA in MTC, and to investigate the correlation with disease progression. DNA was isolated from paraffin-embedded tumors and blood samples from patients with MTC, and the hotspot somatic mutations were sequenced. A total of 2 novel HRAS mutations, p.Asp33Asn and p.His94Tyr, and polymorphisms within the 3' untranslated region (UTR) of CDKN2A (rs11515 and rs3088440) were identified, however, no mutations were observed in other genes. It was suggested that somatic point mutations in BRAF, CDKN2A and PI3KCA do not participate in the oncogenesis of MTC. Further studies are required in order to clarify the contribution of the polymorphisms identified in the 3' UTR of CDKN2A in MTC.en
dc.description.affiliationUniv Fed Sao Paulo, Dept Med, Escola Paulista Med, Lab Mol & Translat Endocrinol, 669 Rua Pedro Toledo, BR-04039032 Sao Paulo, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Escola Paulista Med, Dept Biochem, BR-04039032 Sao Paulo, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Escola Paulista Med, Dept Pathol, BR-04039032 Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Med, Escola Paulista Med, Lab Mol & Translat Endocrinol, 669 Rua Pedro Toledo, BR-04039032 Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Escola Paulista Med, Dept Biochem, BR-04039032 Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Escola Paulista Med, Dept Pathol, BR-04039032 Sao Paulo, Brazil
dc.description.provenanceMade available in DSpace on 2020-11-03T14:40:32Z (GMT). No. of bitstreams: 0 Previous issue date: 2016en
dc.description.sourceWeb of Science
dc.description.sponsorshipSao Paulo State Research Foundation
dc.description.sponsorshipIDFAPESP: 2012/11036-3
dc.description.sponsorshipIDFAPESP: 2012/02465-8
dc.description.sponsorshipIDFAPESP: 2012/01628-0
dc.description.sponsorshipIDFAPESP: 2009/50575-4
dc.description.sponsorshipIDFAPESP: 2012/00079-3
dc.description.sponsorshipIDFAPESP: 2011/20747-8
dc.format.extent1653-1660
dc.identifierhttps://doi.org/10.3892/mmr.2015.4731
dc.identifier.citationMolecular Medicine Reports. Athens, v. 13, n. 2, p. 1653-1660, 2016.
dc.identifier.doi10.3892/mmr.2015.4731
dc.identifier.fileWOS000369553700079.pdf
dc.identifier.issn1791-2997
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/58610
dc.identifier.wosWOS:000369553700079
dc.language.isoeng
dc.publisherSpandidos Publ Ltd
dc.relation.ispartofMolecular Medicine Reports
dc.rightsAcesso aberto
dc.subjectmedullary thyroid canceren
dc.subjectsomatic mutationen
dc.subjectRETen
dc.subjectBRAFen
dc.subjectRASen
dc.subjectCDKN2Aen
dc.subjectPI3KCAen
dc.titleAnalysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinomaen
dc.typeArtigo
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