Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.

Mellid, Sara; Gil, Eduardo; Letón, Rocío; Caleiras, Eduardo; Honrado, Emiliano; Richter, Susan; Palacios, Nuria; Lahera, Marcos; Galofré, Juan C; López-Fernández, Adriá; Calatayud, Maria; Herrera-Martínez, Aura D; Galvez, María A; Matias-Guiu, Xavier; Balbín, Milagros; Korpershoek, Esther; Lim, Eugénie S; Maletta, Francesca; Lider, Sofia; Fliedner, Stephanie M J; Bechmann, Nicole; Eisenhofer, Graeme; Canu, Letizia; Rapizzi, Elena; Bancos, Irina; Robledo Batanero, Mercedes; Cascon Soriano, Alberto

Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.

The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades, accounting for up to 35-40% of PPGL patients. Mo...

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Authors:	Mellid, Sara, Gil, Eduardo, Letón, Rocío, Caleiras, Eduardo, Honrado, Emiliano, Richter, Susan, Palacios, Nuria, Lahera, Marcos, Galofré, Juan C, López-Fernández, Adriá, Calatayud, Maria, Herrera-Martínez, Aura D, Galvez, María A, Matias-Guiu, Xavier, Balbín, Milagros, Korpershoek, Esther, Lim, Eugénie S, Maletta, Francesca, Lider, Sofia, Fliedner, Stephanie M J, Bechmann, Nicole, Eisenhofer, Graeme, Canu, Letizia, Rapizzi, Elena, Bancos, Irina, Robledo Batanero, Mercedes, Cascon Soriano, Alberto
Format:	article
Publication Date:	2022
Country:	España
Institution:	Instituto de Salud Carlos III (ISCIII)
Repository:	Repisalud
Language:	English
OAI Identifier:	oai:repisalud.isciii.es:20.500.12105/26049
Online Access:	https://hdl.handle.net/20.500.12105/26049
Access Level:	Open access
Keyword:	DLST MDH2 NF1 co-occurrent mutations germline mutation pheochromocytoma

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spelling	Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.Mellid, SaraGil, EduardoLetón, RocíoCaleiras, EduardoHonrado, EmilianoRichter, SusanPalacios, NuriaLahera, MarcosGalofré, Juan CLópez-Fernández, AdriáCalatayud, MariaHerrera-Martínez, Aura DGalvez, María AMatias-Guiu, XavierBalbín, MilagrosKorpershoek, EstherLim, Eugénie SMaletta, FrancescaLider, SofiaFliedner, Stephanie M JBechmann, NicoleEisenhofer, GraemeCanu, LetiziaRapizzi, ElenaBancos, IrinaRobledo Batanero, MercedesCascon Soriano, AlbertoDLSTMDH2NF1co-occurrent mutationsgermline mutationpheochromocytomaThe percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades, accounting for up to 35-40% of PPGL patients. Moreover, the application of NGS to the diagnosis of PPGL detects unexpected co-occurrences of pathogenic allelic variants in different susceptibility genes.FrontiersInstituto de Salud Carlos IIIEuropean Union (EU)MINISTERIO DE CIENCIA, INNOVACION Y UNIVERSIDADES (ESPAÑA)20252025-01-1720222022-01-0120222022-01-01research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.12105/26049reponame:Repisaludinstname:Instituto de Salud Carlos III (ISCIII)InglésengInstituto de Salud Carlos III http://dx.doi.org/10.13039/501100004587 Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016 (ISCIII) PI18%2F00454 CARACTERIZACION MOLECULAR, OMICA Y FUNCIONAL DE MUTACIONES EN EL GEN DLST EN PACIENTES CON FEOCROMOCITOMA%2FPARAGANGLIOMAInstituto de Salud Carlos III http://dx.doi.org/10.13039/501100004587 Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020 (ISCIII) PI20%2F01169 CARACTERIZACION DE NUEVAS ALTERACIONES MOLECULARES ASOCIADAS A DESARROLLO Y PROGRESION DE TUMORES RAROS ENDOCRINOS Y NEUROENDOCRINOS. MARCADORES PREDICTIVOS DE SENSIBILIDAD A TRATAMIENTO.open accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:repisalud.isciii.es:20.500.12105/260492026-06-12T12:43:37Z
dc.title.none.fl_str_mv	Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.
title	Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.
spellingShingle	Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma. Mellid, Sara DLST MDH2 NF1 co-occurrent mutations germline mutation pheochromocytoma
title_short	Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.
title_full	Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.
title_fullStr	Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.
title_full_unstemmed	Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.
title_sort	Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.
dc.creator.none.fl_str_mv	Mellid, Sara Gil, Eduardo Letón, Rocío Caleiras, Eduardo Honrado, Emiliano Richter, Susan Palacios, Nuria Lahera, Marcos Galofré, Juan C López-Fernández, Adriá Calatayud, Maria Herrera-Martínez, Aura D Galvez, María A Matias-Guiu, Xavier Balbín, Milagros Korpershoek, Esther Lim, Eugénie S Maletta, Francesca Lider, Sofia Fliedner, Stephanie M J Bechmann, Nicole Eisenhofer, Graeme Canu, Letizia Rapizzi, Elena Bancos, Irina Robledo Batanero, Mercedes Cascon Soriano, Alberto
author	Mellid, Sara
author_facet	Mellid, Sara Gil, Eduardo Letón, Rocío Caleiras, Eduardo Honrado, Emiliano Richter, Susan Palacios, Nuria Lahera, Marcos Galofré, Juan C López-Fernández, Adriá Calatayud, Maria Herrera-Martínez, Aura D Galvez, María A Matias-Guiu, Xavier Balbín, Milagros Korpershoek, Esther Lim, Eugénie S Maletta, Francesca Lider, Sofia Fliedner, Stephanie M J Bechmann, Nicole Eisenhofer, Graeme Canu, Letizia Rapizzi, Elena Bancos, Irina Robledo Batanero, Mercedes Cascon Soriano, Alberto
author_role	author
author2	Gil, Eduardo Letón, Rocío Caleiras, Eduardo Honrado, Emiliano Richter, Susan Palacios, Nuria Lahera, Marcos Galofré, Juan C López-Fernández, Adriá Calatayud, Maria Herrera-Martínez, Aura D Galvez, María A Matias-Guiu, Xavier Balbín, Milagros Korpershoek, Esther Lim, Eugénie S Maletta, Francesca Lider, Sofia Fliedner, Stephanie M J Bechmann, Nicole Eisenhofer, Graeme Canu, Letizia Rapizzi, Elena Bancos, Irina Robledo Batanero, Mercedes Cascon Soriano, Alberto
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.contributor.none.fl_str_mv	Instituto de Salud Carlos III European Union (EU) MINISTERIO DE CIENCIA, INNOVACION Y UNIVERSIDADES (ESPAÑA)
dc.subject.none.fl_str_mv	DLST MDH2 NF1 co-occurrent mutations germline mutation pheochromocytoma
topic	DLST MDH2 NF1 co-occurrent mutations germline mutation pheochromocytoma
description	The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades, accounting for up to 35-40% of PPGL patients. Moreover, the application of NGS to the diagnosis of PPGL detects unexpected co-occurrences of pathogenic allelic variants in different susceptibility genes.
publishDate	2022
dc.date.none.fl_str_mv	2022 2022-01-01 2022 2022-01-01 2025 2025-01-17
dc.type.none.fl_str_mv	research article http://purl.org/coar/resource_type/c_2df8fbb1 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv	info:eu-repo/semantics/article
format	article
dc.identifier.none.fl_str_mv	https://hdl.handle.net/20.500.12105/26049
url	https://hdl.handle.net/20.500.12105/26049
dc.language.none.fl_str_mv	Inglés eng
language_invalid_str_mv	Inglés
language	eng
dc.relation.none.fl_str_mv	Instituto de Salud Carlos III http://dx.doi.org/10.13039/501100004587 Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016 (ISCIII) PI18%2F00454 CARACTERIZACION MOLECULAR, OMICA Y FUNCIONAL DE MUTACIONES EN EL GEN DLST EN PACIENTES CON FEOCROMOCITOMA%2FPARAGANGLIOMA Instituto de Salud Carlos III http://dx.doi.org/10.13039/501100004587 Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020 (ISCIII) PI20%2F01169 CARACTERIZACION DE NUEVAS ALTERACIONES MOLECULARES ASOCIADAS A DESARROLLO Y PROGRESION DE TUMORES RAROS ENDOCRINOS Y NEUROENDOCRINOS. MARCADORES PREDICTIVOS DE SENSIBILIDAD A TRATAMIENTO.
dc.rights.none.fl_str_mv	open access http://purl.org/coar/access_right/c_abf2 Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/
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 Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	application/pdf
dc.publisher.none.fl_str_mv	Frontiers
publisher.none.fl_str_mv	Frontiers
dc.source.none.fl_str_mv	reponame:Repisalud instname:Instituto de Salud Carlos III (ISCIII)
instname_str	Instituto de Salud Carlos III (ISCIII)
reponame_str	Repisalud
collection	Repisalud
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Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.

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