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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

Full text
Author(s):
Nascimento, Fabricio P. [1] ; Cardoso, Mirian G. [2, 1] ; Lindsey, Susan C. [1] ; Kunii, Ilda S. [1] ; Valente, Flavia O. F. [1] ; Kizys, Marina M. L. [1] ; Delcelo, Rosana [3] ; Camacho, Cleber P. [1] ; Maciel, Rui M. B. [1] ; Dias-da-Silva, Magnus R. [2, 1]
Total Authors: 10
Affiliation:
[1] Univ Fed Sao Paulo, Dept Med, Escola Paulista Med, Lab Mol & Translat Endocrinol, 669 Rua Pedro Toledo, BR-04039032 Sao Paulo - Brazil
[2] Univ Fed Sao Paulo, Escola Paulista Med, Dept Biochem, BR-04039032 Sao Paulo - Brazil
[3] Univ Fed Sao Paulo, Escola Paulista Med, Dept Pathol, BR-04039032 Sao Paulo - Brazil
Total Affiliations: 3
Document type: Journal article
Source: MOLECULAR MEDICINE REPORTS; v. 13, n. 2, p. 1653-1660, FEB 2016.
Web of Science Citations: 2
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. (AU)

FAPESP's process: 11/20747-8 - Clinical, biochemical and molecular investigation of Thyrotoxic periodic paralysis
Grantee:Magnus Régios Dias da Silva
Support Opportunities: Regular Research Grants
FAPESP's process: 12/02465-8 - Methylation pattern and HES1, Wnt5a and RET gene expressions in familial and sporadic medullary thyroid carcinoma
Grantee:Mirian Gonçalves Cardoso
Support Opportunities: Scholarships in Brazil - Doctorate (Direct)
FAPESP's process: 12/11036-3 - Investigation of somatic mutation in BRAF, CDKN2A, c-KIT e PI3KCA genes as a second hit in sporadic and RET-positive familial medullary thyroid Carcinoma
Grantee:Fabricio Porto Do Nascimento
Support Opportunities: Scholarships in Brazil - Scientific Initiation
FAPESP's process: 12/00079-3 - Thyroid dysgenesis: screening and functional analyses of mutations of the candidate-genes NKX2.5, HAND2, ISL1, TBX1, HOXA3/HOXB3/HOXD3 and EYA1 in a cohort of 601 patients with congenital hypothyroidism
Grantee:Rui Monteiro de Barros Maciel
Support Opportunities: Regular Research Grants
FAPESP's process: 12/01628-0 - Thyroid dysgenesis: molecular analysis and functional studies of mutations in candidate genes discovered by next generation sequence in a cohort of 268 cases
Grantee:Marina Malta Letro Kizys Polisel
Support Opportunities: Scholarships in Brazil - Doctorate (Direct)