Revista: | Genetics and molecular biology |
Base de datos: | PERIÓDICA |
Número de sistema: | 000417875 |
ISSN: | 1415-4757 |
Autores: | Cruvinel Carloni, Adriana1 Yamane, Leticia1 Scapulatempo-Neto, Cristovam2 Guimaraes, Denise3 Reis, Rui Manuel4 |
Instituciones: | 1Hospital de Cancer de Barretos, Centro de Pesquisa de Oncologia Molecular, Barretos, Sao Paulo. Brasil 2Hospital de Cancer de Barretos, Departamento de Patología, Barretos, Sao Paulo. Brasil 3Hospital de Cancer de Barretos, Departamento de Endoscopia, Barretos, Sao Paulo. Brasil 4Universidade do Minho, Instituto de Pesquisa em Ciencias da Vida e da Saude, Braga. Portugal |
Año: | 2018 |
Periodo: | Mar |
Volumen: | 41 |
Número: | 1 |
Paginación: | 82-84 |
País: | Brasil |
Idioma: | Inglés |
Tipo de documento: | Artículo |
Enfoque: | Caso clínico, analítico |
Resumen en inglés | Hotspot mutations (c.-124bp G > A and c.-146bp G > A) in the promoter region of the TERT gene have been recently described in several types of solid tumors, including glioma, bladder, thyroid, liver and skin neoplasms. However, knowledge with respect to colorectal precursor lesions and cancer is scarce. In the present study we aimed to determine the frequency of hotspot TERT promoter mutations in 145 Brazilian patients, including 103 subjects with precursor lesions and 42 with colorectal carcinomas, and we associated the presence of such mutations with the patients clinical-pathological features. The mutation analysis was conclusive in 123 cases, and none of the precursor and colorectal carcinoma cases showed TERT promoter mutations. We conclude that TERT mutations are not a driving factor in colorectal carcinogenesis |
Disciplinas: | Medicina |
Palabras clave: | Anatomía humana, Genética, Oncología, Carcinoma colorrectal, Mutaciones del promotor, Lesiones precursoras, Gen TERT |
Keyword: | Human anatomy, Genetics, Oncology, Colorectal carcinoma, TERT promoter mutations, Precursor lesions, TERT gene |
Texto completo: | Texto completo (Ver PDF) |