Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2

Detalhes bibliográficos
Autor(a) principal: Wagner, Simona M.
Data de Publicação: 2012
Outros Autores: Zhu, ShuJun, Nicolescu, Adrian C., Mulligan, Lois M.
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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spelling 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)
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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
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