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Analysis of somatic mutations in BRAF, CDKN2A/p16 and PI3KCA in patients with medullary thyroid carcinoma.
Nascimento, Fabrício P; Cardoso, Mirian G; Lindsey, Susan C; Kunii, Ilda S; Valente, Flávia O F; Kizys, Marina M L; Delcelo, Rosana; Camacho, Cléber P; Maciel, Rui M B; Dias-Da-Silva, Magnus R.
Afiliação
  • Nascimento FP; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Sao Paulo 04039­032, Brazil.
  • Cardoso MG; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Sao Paulo 04039­032, Brazil.
  • Lindsey SC; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Sao Paulo 04039­032, Brazil.
  • Kunii IS; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Sao Paulo 04039­032, Brazil.
  • Valente FO; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Sao Paulo 04039­032, Brazil.
  • Kizys MM; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Sao Paulo 04039­032, Brazil.
  • Delcelo R; Department of Pathology, Escola Paulista de Medicina, Universidade Federal de São Paulo, Sao Paulo 04039­032, Brazil.
  • Camacho CP; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Sao Paulo 04039­032, Brazil.
  • Maciel RM; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Sao Paulo 04039­032, Brazil.
  • Dias-Da-Silva MR; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, Sao Paulo 04039­032, Brazil.
Mol Med Rep ; 13(2): 1653-60, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26718898
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 paraffin­embedded 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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Neoplasias da Glândula Tireoide / Proteínas Nucleares / Carcinoma Neuroendócrino / Inibidor p16 de Quinase Dependente de Ciclina / Proteínas Proto-Oncogênicas B-raf Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male / Middle aged Idioma: En Revista: Mol Med Rep Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Brasil País de publicação: Grécia
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Neoplasias da Glândula Tireoide / Proteínas Nucleares / Carcinoma Neuroendócrino / Inibidor p16 de Quinase Dependente de Ciclina / Proteínas Proto-Oncogênicas B-raf Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male / Middle aged Idioma: En Revista: Mol Med Rep Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Brasil País de publicação: Grécia