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

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

Author Nascimento, Fabricio P. Autor UNIFESP Google Scholar
Cardoso, Mirian G. Autor UNIFESP Google Scholar
Lindsey, Susan C. Autor UNIFESP Google Scholar
Kunii, Ilda S. Autor UNIFESP Google Scholar
Valente, Flavia O. F. Autor UNIFESP Google Scholar
Kizys, Marina M. L. Autor UNIFESP Google Scholar
Delcelo, Rosana Autor UNIFESP Google Scholar
Camacho, Cleber P. Autor UNIFESP Google Scholar
Maciel, Rui M. B. Autor UNIFESP Google Scholar
Dias-da-Silva, Magnus R. Autor UNIFESP Google Scholar
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
xmlui.dri2xhtml.METS-1.0.item-coverage Athens
Language English
Sponsor Sao Paulo State Research Foundation
Grant number FAPESP: 2012/11036-3
FAPESP: 2012/02465-8
FAPESP: 2012/01628-0
FAPESP: 2009/50575-4
FAPESP: 2012/00079-3
FAPESP: 2011/20747-8
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
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000369553700079

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