Busca avançada
Ano de início
Entree
(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GISTs)

Texto completo
Autor(es):
Mostrar menos -
Campanella, Nathalia C. [1] ; Celestino, Ricardo [2, 3] ; Pestana, Ana [2, 4] ; Scapulatempo-Neto, Cristovam [1, 5] ; de Oliveira, Antonio Talvane [6] ; Brito, Maria Jose [7] ; Gouveia, Antonio [8] ; Lopes, Jose Manuel [2, 9, 10] ; Guimaraes, Denise Peixoto [1, 11] ; Soares, Paula [2, 10] ; Reis, Rui M. [1, 12, 13]
Número total de Autores: 11
Afiliação do(s) autor(es):
Mostrar menos -
[1] Barretos Canc Hosp, Mol Oncol Res Ctr, BR-14784400 Barretos, SP - Brazil
[2] Univ Porto IPATIMUP, Inst Mol Pathol & Immunol, Oporto - Portugal
[3] Polytech Porto, Sch Allied Hlth Sci ESTSP, Oporto - Portugal
[4] Univ Porto, Inst Biomed Sci, P-4100 Oporto - Portugal
[5] Barretos Canc Hosp, Dept Pathol, Sao Paulo - Brazil
[6] Barretos Canc Hosp, Dept Surg, Sao Paulo - Brazil
[7] Hosp Garcia Orta, Dept Pathol, Sao Paulo - Brazil
[8] Hosp Sao Joao, Dept Surg, Oporto - Portugal
[9] Ctr Hosp Sao Joao, Dept Pathol, Oporto - Portugal
[10] Univ Porto, Dept Pathol & Oncol, Fac Med, P-4100 Oporto - Portugal
[11] Barretos Canc Hosp, Dept Endoscopy, Sao Paulo - Brazil
[12] Univ Minho, Sch Hlth Sci, Life & Hlth Sci Res Inst ICVS, Braga - Portugal
[13] 3Bs PT Govt Associate Lab, ICVS, Braga - Portugal
Número total de Afiliações: 13
Tipo de documento: Artigo Científico
Fonte: European Journal of Human Genetics; v. 23, n. 6, p. 877-879, JUN 2015.
Citações Web of Science: 15
Resumo

Somatic mutations in the promoter region of telomerase reverse transcriptase (TERT) gene, mainly at positions c.-124 and c.-146 bp, are frequent in several human cancers; yet its presence in gastrointestinal stromal tumor (GIST) has not been reported to date. Herein, we searched for the presence and clinicopathological association of TERT promoter mutations in genomic DNA from 130 bona fide GISTs. We found TERT promoter mutations in 3.8% (5/130) of GISTs. The c.-124C > T mutation was the most common event, present in 2.3% (3/130), and the c.-146C > T mutation in 1.5% (2/130) of GISTs. No significant association was observed between TERT promoter mutation and patient's clinicopathological features. The present study establishes the low frequency (4%) of TERT promoter mutations in GISTs. Further studies are required to confirm our findings and to elucidate the hypothetical biological and clinical impact of TERT promoter mutation in GIST pathogenesis. (AU)

Processo FAPESP: 13/25787-3 - Estudo de biomarcadores de prognóstico e resposta terapêutica em tumores estromais gastrointestinais (GISTs)
Beneficiário:Nathália Cristina Campanella
Linha de fomento: Bolsas no Brasil - Doutorado Direto