Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2
Autor(a) principal: | |
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Data de Publicação: | 2012 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Clinics |
Texto Completo: | https://www.revistas.usp.br/clinics/article/view/19725 |
Resumo: | Multiple endocrine neoplasia type 2 is an inherited cancer syndrome characterized by tumors of thyroid and adrenal tissues. Germline mutations of the REarranged during Transfection (RET) proto-oncogene, leading to its unregulated activation, are the underlying cause of this disease. Multiple endocrine neoplasia type 2 has been a model in clinical cancer genetics, demonstrating how knowledge of the genetic basis can shape the diagnosis and treatment of the disease. Here, we discuss the nature and effects of the most common recurrent mutations of RET found in multiple endocrine neoplasia type 2. Current understanding of the molecular mechanisms of RET mutations and how they alter the structure and function of the RET protein leading to its aberrant activation, and the effects on RET localization and signaling are described. |
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Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2RETMultiple Endocrine Neoplasia Type 2Genotype-PhenotypeMultiple endocrine neoplasia type 2 is an inherited cancer syndrome characterized by tumors of thyroid and adrenal tissues. Germline mutations of the REarranged during Transfection (RET) proto-oncogene, leading to its unregulated activation, are the underlying cause of this disease. Multiple endocrine neoplasia type 2 has been a model in clinical cancer genetics, demonstrating how knowledge of the genetic basis can shape the diagnosis and treatment of the disease. Here, we discuss the nature and effects of the most common recurrent mutations of RET found in multiple endocrine neoplasia type 2. Current understanding of the molecular mechanisms of RET mutations and how they alter the structure and function of the RET protein leading to its aberrant activation, and the effects on RET localization and signaling are described.Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo2012-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://www.revistas.usp.br/clinics/article/view/1972510.6061/clinics/2012(Sup01)14Clinics; Vol. 67 No. supl.1 (2012); 77-84Clinics; v. 67 n. supl.1 (2012); 77-84Clinics; Vol. 67 Núm. supl.1 (2012); 77-841980-53221807-5932reponame:Clinicsinstname:Universidade de São Paulo (USP)instacron:USPenghttps://www.revistas.usp.br/clinics/article/view/19725/21789Wagner, Simona M.Zhu, ShuJunNicolescu, Adrian C.Mulligan, Lois M.info:eu-repo/semantics/openAccess2012-05-24T20:34:05Zoai:revistas.usp.br:article/19725Revistahttps://www.revistas.usp.br/clinicsPUBhttps://www.revistas.usp.br/clinics/oai||clinics@hc.fm.usp.br1980-53221807-5932opendoar:2012-05-24T20:34:05Clinics - Universidade de São Paulo (USP)false |
dc.title.none.fl_str_mv |
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2 |
title |
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2 |
spellingShingle |
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2 Wagner, Simona M. RET Multiple Endocrine Neoplasia Type 2 Genotype-Phenotype |
title_short |
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2 |
title_full |
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2 |
title_fullStr |
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2 |
title_full_unstemmed |
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2 |
title_sort |
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2 |
author |
Wagner, Simona M. |
author_facet |
Wagner, Simona M. Zhu, ShuJun Nicolescu, Adrian C. Mulligan, Lois M. |
author_role |
author |
author2 |
Zhu, ShuJun Nicolescu, Adrian C. Mulligan, Lois M. |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Wagner, Simona M. Zhu, ShuJun Nicolescu, Adrian C. Mulligan, Lois M. |
dc.subject.por.fl_str_mv |
RET Multiple Endocrine Neoplasia Type 2 Genotype-Phenotype |
topic |
RET Multiple Endocrine Neoplasia Type 2 Genotype-Phenotype |
description |
Multiple endocrine neoplasia type 2 is an inherited cancer syndrome characterized by tumors of thyroid and adrenal tissues. Germline mutations of the REarranged during Transfection (RET) proto-oncogene, leading to its unregulated activation, are the underlying cause of this disease. Multiple endocrine neoplasia type 2 has been a model in clinical cancer genetics, demonstrating how knowledge of the genetic basis can shape the diagnosis and treatment of the disease. Here, we discuss the nature and effects of the most common recurrent mutations of RET found in multiple endocrine neoplasia type 2. Current understanding of the molecular mechanisms of RET mutations and how they alter the structure and function of the RET protein leading to its aberrant activation, and the effects on RET localization and signaling are described. |
publishDate |
2012 |
dc.date.none.fl_str_mv |
2012-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.revistas.usp.br/clinics/article/view/19725 10.6061/clinics/2012(Sup01)14 |
url |
https://www.revistas.usp.br/clinics/article/view/19725 |
identifier_str_mv |
10.6061/clinics/2012(Sup01)14 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://www.revistas.usp.br/clinics/article/view/19725/21789 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo |
publisher.none.fl_str_mv |
Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo |
dc.source.none.fl_str_mv |
Clinics; Vol. 67 No. supl.1 (2012); 77-84 Clinics; v. 67 n. supl.1 (2012); 77-84 Clinics; Vol. 67 Núm. supl.1 (2012); 77-84 1980-5322 1807-5932 reponame:Clinics instname:Universidade de São Paulo (USP) instacron:USP |
instname_str |
Universidade de São Paulo (USP) |
instacron_str |
USP |
institution |
USP |
reponame_str |
Clinics |
collection |
Clinics |
repository.name.fl_str_mv |
Clinics - Universidade de São Paulo (USP) |
repository.mail.fl_str_mv |
||clinics@hc.fm.usp.br |
_version_ |
1800222758299238400 |