Análisis de la implicación de los genes de supresión tumoral TP53, p16INK4, p21WAF1, RB1 y de las enzimas metabolizadoras de drogas en el desarrollo de tumores óseos en niños
Several tumor suppressor genes such as p16INK4, TP53, RB1 y p21WAF1 are involved in cell cycle regulation in response to DNA damage and belong to the complex pathway that regulates cell proliferation and/or differentiation. We have investigated the presence of mutations in those genes and polymorphi...
| Autores: | , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2000 |
| País: | España |
| Institución: | Universidad de Navarra |
| Repositorio: | Dadun. Depósito Académico Digital de la Universidad de Navarra |
| Idioma: | español |
| OAI Identifier: | oai:dadun.unav.edu:10171/22858 |
| Acceso en línea: | https://hdl.handle.net/10171/22858 |
| Access Level: | acceso abierto |
| Palabra clave: | Tumour suppressor genes TP53 p21WAF1, RB1 |
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Análisis de la implicación de los genes de supresión tumoral TP53, p16INK4, p21WAF1, RB1 y de las enzimas metabolizadoras de drogas en el desarrollo de tumores óseos en niñosAnalysis of the involvement of the tumour suppressor genes TP53, p16INK4, p21WAF1, RB1 and the drugs metabolizing enzymes in the development of bone tumours in childrenPatiño-García, A. (Ana)|||/items/d68c74f1-df22-4e04-9b77-9cf48fd87b46Sotillo, E. (Elena)|||/items/61c05710-372a-4c99-8903-145013c1e78bLópez-de-Mesa, M.R. (María de los Reyes)|||/items/b5cba608-3075-483a-84ac-b74751401b97Sierrasesumaga, L. (Luis)|||/items/64d1f030-95e5-4055-a33a-920166ac53a3Tumour suppressor genes TP53p21WAF1, RB1Several tumor suppressor genes such as p16INK4, TP53, RB1 y p21WAF1 are involved in cell cycle regulation in response to DNA damage and belong to the complex pathway that regulates cell proliferation and/or differentiation. We have investigated the presence of mutations in those genes and polymorphisms of Drug Metabolizing Enzymes that could be involved in the development of pediatric bone tumors or in their outcome. MATERIALS AND METHODS: By means of PCR-based techniques, we have analyzed the presence of variations in the coding sequence of p16INK4, TP53, RB1 y p21WAF1 and of the Drug Metabolizing Enzymes in a group of 82 osteosarcomas and 47 Ewing's sarcomas as well as in a control group of 115 healthy children. RESULTS: We detected mutations of the TP53 gene in about 25% of the samples analyzed, most frequently in association with tumors of poor prognosis or reduced survival. The p16INK4 gene was homozygously deleted in 18% of the osteosarcomas, also associated with poor prognosis and unfavourable histologic subtypes; RB1 was altered in 21% of the osteosarcomas. We did not detect relevant associations between polymorphisms of the Drug Metabolizing Enzymes or mutation of the p21WAF1 and development of pediatric bone tumors. CONCLUSIONS: Alteration of TP53, p16INK4 and p21WAF1 seems to be involved in the development of pediatrGobierno de Navarra. Departamento de SaludDadun. Depósito Académico Digital Universidad de Navarra20122012-07-1020002000-01-0120002000-01-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10171/22858reponame:Dadun. Depósito Académico Digital de la Universidad de Navarrainstname:Universidad de NavarraEspañolspaopen accesshttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessoai:dadun.unav.edu:10171/228582026-06-21T12:47:57Z |
| dc.title.none.fl_str_mv |
Análisis de la implicación de los genes de supresión tumoral TP53, p16INK4, p21WAF1, RB1 y de las enzimas metabolizadoras de drogas en el desarrollo de tumores óseos en niños Analysis of the involvement of the tumour suppressor genes TP53, p16INK4, p21WAF1, RB1 and the drugs metabolizing enzymes in the development of bone tumours in children |
| title |
Análisis de la implicación de los genes de supresión tumoral TP53, p16INK4, p21WAF1, RB1 y de las enzimas metabolizadoras de drogas en el desarrollo de tumores óseos en niños |
| spellingShingle |
Análisis de la implicación de los genes de supresión tumoral TP53, p16INK4, p21WAF1, RB1 y de las enzimas metabolizadoras de drogas en el desarrollo de tumores óseos en niños Patiño-García, A. (Ana)|||/items/d68c74f1-df22-4e04-9b77-9cf48fd87b46 Tumour suppressor genes TP53 p21WAF1, RB1 |
| title_short |
Análisis de la implicación de los genes de supresión tumoral TP53, p16INK4, p21WAF1, RB1 y de las enzimas metabolizadoras de drogas en el desarrollo de tumores óseos en niños |
| title_full |
Análisis de la implicación de los genes de supresión tumoral TP53, p16INK4, p21WAF1, RB1 y de las enzimas metabolizadoras de drogas en el desarrollo de tumores óseos en niños |
| title_fullStr |
Análisis de la implicación de los genes de supresión tumoral TP53, p16INK4, p21WAF1, RB1 y de las enzimas metabolizadoras de drogas en el desarrollo de tumores óseos en niños |
| title_full_unstemmed |
Análisis de la implicación de los genes de supresión tumoral TP53, p16INK4, p21WAF1, RB1 y de las enzimas metabolizadoras de drogas en el desarrollo de tumores óseos en niños |
| title_sort |
Análisis de la implicación de los genes de supresión tumoral TP53, p16INK4, p21WAF1, RB1 y de las enzimas metabolizadoras de drogas en el desarrollo de tumores óseos en niños |
| dc.creator.none.fl_str_mv |
Patiño-García, A. (Ana)|||/items/d68c74f1-df22-4e04-9b77-9cf48fd87b46 Sotillo, E. (Elena)|||/items/61c05710-372a-4c99-8903-145013c1e78b López-de-Mesa, M.R. (María de los Reyes)|||/items/b5cba608-3075-483a-84ac-b74751401b97 Sierrasesumaga, L. (Luis)|||/items/64d1f030-95e5-4055-a33a-920166ac53a3 |
| author |
Patiño-García, A. (Ana)|||/items/d68c74f1-df22-4e04-9b77-9cf48fd87b46 |
| author_facet |
Patiño-García, A. (Ana)|||/items/d68c74f1-df22-4e04-9b77-9cf48fd87b46 Sotillo, E. (Elena)|||/items/61c05710-372a-4c99-8903-145013c1e78b López-de-Mesa, M.R. (María de los Reyes)|||/items/b5cba608-3075-483a-84ac-b74751401b97 Sierrasesumaga, L. (Luis)|||/items/64d1f030-95e5-4055-a33a-920166ac53a3 |
| author_role |
author |
| author2 |
Sotillo, E. (Elena)|||/items/61c05710-372a-4c99-8903-145013c1e78b López-de-Mesa, M.R. (María de los Reyes)|||/items/b5cba608-3075-483a-84ac-b74751401b97 Sierrasesumaga, L. (Luis)|||/items/64d1f030-95e5-4055-a33a-920166ac53a3 |
| author2_role |
author author author |
| dc.contributor.none.fl_str_mv |
Dadun. Depósito Académico Digital Universidad de Navarra |
| dc.subject.none.fl_str_mv |
Tumour suppressor genes TP53 p21WAF1, RB1 |
| topic |
Tumour suppressor genes TP53 p21WAF1, RB1 |
| description |
Several tumor suppressor genes such as p16INK4, TP53, RB1 y p21WAF1 are involved in cell cycle regulation in response to DNA damage and belong to the complex pathway that regulates cell proliferation and/or differentiation. We have investigated the presence of mutations in those genes and polymorphisms of Drug Metabolizing Enzymes that could be involved in the development of pediatric bone tumors or in their outcome. MATERIALS AND METHODS: By means of PCR-based techniques, we have analyzed the presence of variations in the coding sequence of p16INK4, TP53, RB1 y p21WAF1 and of the Drug Metabolizing Enzymes in a group of 82 osteosarcomas and 47 Ewing's sarcomas as well as in a control group of 115 healthy children. RESULTS: We detected mutations of the TP53 gene in about 25% of the samples analyzed, most frequently in association with tumors of poor prognosis or reduced survival. The p16INK4 gene was homozygously deleted in 18% of the osteosarcomas, also associated with poor prognosis and unfavourable histologic subtypes; RB1 was altered in 21% of the osteosarcomas. We did not detect relevant associations between polymorphisms of the Drug Metabolizing Enzymes or mutation of the p21WAF1 and development of pediatric bone tumors. CONCLUSIONS: Alteration of TP53, p16INK4 and p21WAF1 seems to be involved in the development of pediatr |
| publishDate |
2000 |
| dc.date.none.fl_str_mv |
2000 2000-01-01 2000 2000-01-01 2012 2012-07-10 |
| dc.type.none.fl_str_mv |
journal article http://purl.org/coar/resource_type/c_6501 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
https://hdl.handle.net/10171/22858 |
| url |
https://hdl.handle.net/10171/22858 |
| dc.language.none.fl_str_mv |
Español spa |
| language_invalid_str_mv |
Español |
| language |
spa |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 |
| dc.rights.openaire.fl_str_mv |
info:eu-repo/semantics/openAccess |
| rights_invalid_str_mv |
open access http://purl.org/coar/access_right/c_abf2 |
| eu_rights_str_mv |
openAccess |
| dc.format.none.fl_str_mv |
application/pdf |
| dc.publisher.none.fl_str_mv |
Gobierno de Navarra. Departamento de Salud |
| publisher.none.fl_str_mv |
Gobierno de Navarra. Departamento de Salud |
| dc.source.none.fl_str_mv |
reponame:Dadun. Depósito Académico Digital de la Universidad de Navarra instname:Universidad de Navarra |
| instname_str |
Universidad de Navarra |
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Dadun. Depósito Académico Digital de la Universidad de Navarra |
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Dadun. Depósito Académico Digital de la Universidad de Navarra |
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15,300719 |