Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma
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Publication Date: | 2016 |
Other Authors: | , , , , , , , , |
Format: | Article |
Language: | eng |
Source: | Repositório Institucional da UNIFESP |
Download full: | https://repositorio.unifesp.br/handle/11600/58610 https://doi.org/10.3892/mmr.2015.4731 |
Summary: | 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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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]2020-11-03T14:40:32Z2020-11-03T14:40:32Z2016Molecular Medicine Reports. Athens, v. 13, n. 2, p. 1653-1660, 2016.1791-2997https://repositorio.unifesp.br/handle/11600/58610https://doi.org/10.3892/mmr.2015.4731WOS000369553700079.pdf10.3892/mmr.2015.4731WOS:000369553700079Medullary 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.Sao Paulo State Research FoundationUniv 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, BrazilFAPESP: 2012/11036-3FAPESP: 2012/02465-8FAPESP: 2012/01628-0FAPESP: 2009/50575-4FAPESP: 2012/00079-3FAPESP: 2011/20747-8Web of Science1653-1660engSpandidos Publ LtdMolecular Medicine Reportsmedullary thyroid cancersomatic mutationRETBRAFRASCDKN2API3KCAAnalysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinomainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleAthens132info:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP11600/586102021-09-29 14:55:26.126metadata only accessoai:repositorio.unifesp.br:11600/58610Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652023-05-25T12:17:46.083003Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.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.eng.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.issued.fl_str_mv |
2016 |
dc.date.accessioned.fl_str_mv |
2020-11-03T14:40:32Z |
dc.date.available.fl_str_mv |
2020-11-03T14:40:32Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
Molecular Medicine Reports. Athens, v. 13, n. 2, p. 1653-1660, 2016. |
dc.identifier.uri.fl_str_mv |
https://repositorio.unifesp.br/handle/11600/58610 https://doi.org/10.3892/mmr.2015.4731 |
dc.identifier.issn.none.fl_str_mv |
1791-2997 |
dc.identifier.file.none.fl_str_mv |
WOS000369553700079.pdf |
dc.identifier.doi.none.fl_str_mv |
10.3892/mmr.2015.4731 |
dc.identifier.wos.none.fl_str_mv |
WOS:000369553700079 |
identifier_str_mv |
Molecular Medicine Reports. Athens, v. 13, n. 2, p. 1653-1660, 2016. 1791-2997 WOS000369553700079.pdf 10.3892/mmr.2015.4731 WOS:000369553700079 |
url |
https://repositorio.unifesp.br/handle/11600/58610 https://doi.org/10.3892/mmr.2015.4731 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.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 |
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) |
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UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
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Repositório Institucional da UNIFESP |
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Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
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