Author |
Nascimento, Fabricio P.
![]() ![]() Cardoso, Mirian G. ![]() ![]() Lindsey, Susan C. ![]() ![]() Kunii, Ilda S. ![]() ![]() Valente, Flavia O. F. ![]() ![]() Kizys, Marina M. L. ![]() ![]() Delcelo, Rosana ![]() ![]() Camacho, Cleber P. ![]() ![]() Maciel, Rui M. B. ![]() ![]() Dias-da-Silva, Magnus R. ![]() ![]() |
Abstract | 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. |
Keywords |
medullary thyroid cancer
somatic mutation RET BRAF RAS CDKN2A PI3KCA |
xmlui.dri2xhtml.METS-1.0.item-coverage | Athens |
Language | English |
Sponsor | Sao Paulo State Research Foundation |
Grant number |
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Date | 2016 |
Published in | Molecular Medicine Reports. Athens, v. 13, n. 2, p. 1653-1660, 2016. |
ISSN | 1791-2997 (Sherpa/Romeo, impact factor) |
Publisher | Spandidos Publ Ltd |
Extent | 1653-1660 |
Origin |
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Access rights | Open access ![]() |
Type | Article |
Web of Science ID | WOS:000369553700079 |
URI | https://repositorio.unifesp.br/handle/11600/58475 |
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