Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , , , , , , , |
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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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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1814268393485762560 |