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

Detalhes bibliográficos
Autor(a) principal: Nascimento, Fabricio P. [UNIFESP]
Data de Publicação: 2016
Outros Autores: Cardoso, Mirian G. [UNIFESP], Lindsey, Susan C. [UNIFESP], Kunii, Ilda S. [UNIFESP], Valente, Flavia O. F. [UNIFESP], Kizys, Marina M. L. [UNIFESP], Delcelo, Rosana [UNIFESP], Camacho, Cleber P. [UNIFESP], Maciel, Rui M. B. [UNIFESP], Dias-da-Silva, Magnus R. [UNIFESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNIFESP
Texto Completo: https://doi.org/10.3892/mmr.2015.4731
https://repositorio.unifesp.br/handle/11600/58475
Resumo: Medullary 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.
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spelling Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinomamedullary thyroid cancersomatic mutationRETBRAFRASCDKN2API3KCAMedullary 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.Univ Fed Sao Paulo, Dept Med, Escola Paulista Med, Lab Mol & Translat Endocrinol, 669 Rua Pedro Toledo, BR-04039032 Sao Paulo, BrazilUniv Fed Sao Paulo, Escola Paulista Med, Dept Biochem, BR-04039032 Sao Paulo, BrazilUniv Fed Sao Paulo, Escola Paulista Med, Dept Pathol, BR-04039032 Sao Paulo, BrazilUniv Fed Sao Paulo, Dept Med, Escola Paulista Med, Lab Mol & Translat Endocrinol, 669 Rua Pedro Toledo, BR-04039032 Sao Paulo, BrazilUniv Fed Sao Paulo, Escola Paulista Med, Dept Biochem, BR-04039032 Sao Paulo, BrazilUniv Fed Sao Paulo, Escola Paulista Med, Dept Pathol, BR-04039032 Sao Paulo, BrazilWeb of ScienceSao Paulo State Research FoundationFAPESP: 2012/11036-3FAPESP: 2012/02465-8FAPESP: 2012/01628-0FAPESP: 2009/50575-4FAPESP: 2012/00079-3FAPESP: 2011/20747-8Spandidos Publ Ltd2020-10-30T18:46:28Z2020-10-30T18:46:28Z2016info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion1653-1660application/pdfhttps://doi.org/10.3892/mmr.2015.4731Molecular Medicine Reports. Athens, v. 13, n. 2, p. 1653-1660, 2016.10.3892/mmr.2015.4731WOS000369553700079.pdf1791-2997https://repositorio.unifesp.br/handle/11600/58475WOS:000369553700079engMolecular Medicine ReportsAthensinfo:eu-repo/semantics/openAccessNascimento, Fabricio P. [UNIFESP]Cardoso, Mirian G. [UNIFESP]Lindsey, Susan C. [UNIFESP]Kunii, Ilda S. [UNIFESP]Valente, Flavia O. F. [UNIFESP]Kizys, Marina M. L. [UNIFESP]Delcelo, Rosana [UNIFESP]Camacho, Cleber P. [UNIFESP]Maciel, Rui M. B. [UNIFESP]Dias-da-Silva, Magnus R. [UNIFESP]reponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-08-02T09:28:18Zoai:repositorio.unifesp.br/:11600/58475Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-08-02T09:28:18Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma
title Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma
spellingShingle Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma
Nascimento, Fabricio P. [UNIFESP]
medullary thyroid cancer
somatic mutation
RET
BRAF
RAS
CDKN2A
PI3KCA
title_short Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma
title_full Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma
title_fullStr Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma
title_full_unstemmed Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma
title_sort Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma
author Nascimento, Fabricio P. [UNIFESP]
author_facet Nascimento, Fabricio P. [UNIFESP]
Cardoso, Mirian G. [UNIFESP]
Lindsey, Susan C. [UNIFESP]
Kunii, Ilda S. [UNIFESP]
Valente, Flavia O. F. [UNIFESP]
Kizys, Marina M. L. [UNIFESP]
Delcelo, Rosana [UNIFESP]
Camacho, Cleber P. [UNIFESP]
Maciel, Rui M. B. [UNIFESP]
Dias-da-Silva, Magnus R. [UNIFESP]
author_role author
author2 Cardoso, Mirian G. [UNIFESP]
Lindsey, Susan C. [UNIFESP]
Kunii, Ilda S. [UNIFESP]
Valente, Flavia O. F. [UNIFESP]
Kizys, Marina M. L. [UNIFESP]
Delcelo, Rosana [UNIFESP]
Camacho, Cleber P. [UNIFESP]
Maciel, Rui M. B. [UNIFESP]
Dias-da-Silva, Magnus R. [UNIFESP]
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Nascimento, Fabricio P. [UNIFESP]
Cardoso, Mirian G. [UNIFESP]
Lindsey, Susan C. [UNIFESP]
Kunii, Ilda S. [UNIFESP]
Valente, Flavia O. F. [UNIFESP]
Kizys, Marina M. L. [UNIFESP]
Delcelo, Rosana [UNIFESP]
Camacho, Cleber P. [UNIFESP]
Maciel, Rui M. B. [UNIFESP]
Dias-da-Silva, Magnus R. [UNIFESP]
dc.subject.por.fl_str_mv medullary thyroid cancer
somatic mutation
RET
BRAF
RAS
CDKN2A
PI3KCA
topic medullary thyroid cancer
somatic mutation
RET
BRAF
RAS
CDKN2A
PI3KCA
description Medullary 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.
publishDate 2016
dc.date.none.fl_str_mv 2016
2020-10-30T18:46:28Z
2020-10-30T18:46:28Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://doi.org/10.3892/mmr.2015.4731
Molecular Medicine Reports. Athens, v. 13, n. 2, p. 1653-1660, 2016.
10.3892/mmr.2015.4731
WOS000369553700079.pdf
1791-2997
https://repositorio.unifesp.br/handle/11600/58475
WOS:000369553700079
url https://doi.org/10.3892/mmr.2015.4731
https://repositorio.unifesp.br/handle/11600/58475
identifier_str_mv Molecular Medicine Reports. Athens, v. 13, n. 2, p. 1653-1660, 2016.
10.3892/mmr.2015.4731
WOS000369553700079.pdf
1791-2997
WOS:000369553700079
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Molecular Medicine Reports
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 1653-1660
application/pdf
dc.coverage.none.fl_str_mv Athens
dc.publisher.none.fl_str_mv Spandidos Publ Ltd
publisher.none.fl_str_mv Spandidos Publ Ltd
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
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