| Revue: | Genetics and molecular biology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000396081 |
| ISSN: | 1415-4757 |
| Autores: | El-Husny, Antonette1 Raiol-Moraes, Milene1 Amador, Marcos1 Ribeiro-dos-Santos, Andre M2 Montagnini, Andre3 Barbosa, Silvanira4 Silva, Artur2 Assumpcao, Paulo5 Ishak, Geraldo6 Santos, Sidney2 Pinto, Pablo1 Cruz, Aline5 Ribeiro-dos-Santos, Andrea2 |
| Instituciones: | 1Universidade Federal do Para, Laboratorio de Genetica Humana e Medica, Belem, Para. Brasil 2Universidade Federal do Para, Rede de Pesquisa em Genomica Populacional Humana, Belem, Para. Brasil 3Instituto Sirio Libanes de Ensino e Pesquisa, Hospital Sirio-Libanes, Sao Paulo. Brasil 4Universidade Federal do Para, Laboratorio de Polimorfismo do DNA, Belem, Para. Brasil 5Universidade Federal do Para, Nucleo de Pesquisas em Oncologia, Belem, Para. Brasil 6Universidade Federal do Para, Hospital Universitario Joao de Barros Barreto, Belem, Para. Brasil |
| Año: | 2016 |
| Periodo: | Jun |
| Volumen: | 39 |
| Número: | 2 |
| Paginación: | 189-198 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Analítico |
| Resumen en inglés | Gastric cancer is considered to be the fifth highest incident tumor worldwide and the third leading cause of cancer deaths. Developing regions report a higher number of sporadic cases, but there are only a few local studies related to hereditary cases of gastric cancer in Brazil to confirm this fact. CDH1 g ermline mutations have been described both in familial and sporadic cases, but there is only one recent molecular description of individuals from Brazil. In this study we performed Next Generation Sequencing (NGS) to assess CDH1 germline mutations in individuals who match the clinical criteria for Hereditary Diffuse Gastric Cancer (HDGC), or who exhibit very early diagnosis of gastric cancer. Among five probands we detected CDH1 germline mutations in two cases (40%). The mutation c.1023T > G was found in a HDGC family and the mutation c.1849G > A, which is nearly exclusive to African populations, was found in an early-onset case of gastric adenocarcinoma. The mutations described highlight the existence of gastric cancer cases caused by CDH1 germline mutations in northern Brazil, although such information is frequently ignored due to the existence of a large number of environmental factors locally. Our report represent the first CDH1 mutations in HDGC described from Brazil by an NGS platform |
| Disciplinas: | Biología, Medicina |
| Palabras clave: | Genética, Oncología, Mutaciones, Cáncer gástrico, Secuenciación de próxima generación (NGS) |
| Keyword: | Biology, Medicine, Genetics, Oncology, Mutations, Gastric cancer, Next Generation Sequencing (NGS) |
| Texte intégral: | Texto completo (Ver PDF) |
