Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.

Medullary thyroid carcinoma (MTC) is a tumor that arises from parafollicular cells of the thyroid gland. MTC can occur sporadically (75%) or as part of inherited cancer syndromes (25%). In most cases, hereditary MTC evolves from preneoplastic C cell hyperplasia (CCH), so early detection of this path...

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Autores: Cascon Soriano, Alberto, Cebrian, Arancha, Pollan, Marina, Ruiz-Llorente, Sergio, Montero-Conde, Cristina, Leton, Rocio, Gutierrez, Ruth, Lesueur, Fabienne, Milne, Roger L, Gonzalez-Albarran, Olga, Lucas-Morante, Tomas, Benitez, Javier, Ponder, Bruce A J, Robledo Batanero, Mercedes
Tipo de recurso: artículo
Fecha de publicación:2005
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/26071
Acceso en línea:https://hdl.handle.net/20.500.12105/26071
Access Level:acceso abierto
Palabra clave:RET PROTOONCOGENE
SDHD GENE
PARAGANGLIOMA
MUTATIONS
PHEOCHROMOCYTOMAS
CANCER
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network_acronym_str ES
network_name_str España
repository_id_str
spelling Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.Cascon Soriano, AlbertoCebrian, AranchaPollan, MarinaRuiz-Llorente, SergioMontero-Conde, CristinaLeton, RocioGutierrez, RuthLesueur, FabienneMilne, Roger LGonzalez-Albarran, OlgaLucas-Morante, TomasBenitez, JavierPonder, Bruce A JRobledo Batanero, MercedesRET PROTOONCOGENESDHD GENEPARAGANGLIOMAMUTATIONSPHEOCHROMOCYTOMASCANCERMedullary thyroid carcinoma (MTC) is a tumor that arises from parafollicular cells of the thyroid gland. MTC can occur sporadically (75%) or as part of inherited cancer syndromes (25%). In most cases, hereditary MTC evolves from preneoplastic C cell hyperplasia (CCH), so early detection of this pathology would evidently be critical. A recent study reports that alterations in succinate dehydrogenase (SDH) D are responsible for familial non-RET CCH. First, we studied SDHD in two families with hereditary non-RET CCH and found no alterations related to the inheritance of this disease. Then, we investigated whether the H50R variant could be a risk factor in the sporadic development of MTC in both Spanish and English patients. We found no evidence that the presence of the H50R is strongly associated with the risk of sporadic MTC, although we did observe an association with age at diagnosis of MTC in Spanish H50R carriers that we did not find in English patients. Finally, we looked for evidence of CCH or any other thyroid disease in a panel of germ-line SDH (B or D) mutation carriers and found none. We conclude that SDHD variants do not constitute a risk factor for developing CCH or sporadic MTC.Endocrine Society20252025-01-2020052005-04-0120052005-04-01research articlehttp://purl.org/coar/resource_type/c_2df8fbb1AOhttp://purl.org/coar/version/c_b1a7d7d4d402bcceinfo:eu-repo/semantics/articleapplication/pdfapplication/vnd.openxmlformats-officedocument.wordprocessingml.documenthttps://hdl.handle.net/20.500.12105/26071reponame:Repisaludinstname:Instituto de Salud Carlos III (ISCIII)Inglésengopen 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:20.500.12105/260712026-06-12T12:43:37Z
dc.title.none.fl_str_mv Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.
title Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.
spellingShingle Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.
Cascon Soriano, Alberto
RET PROTOONCOGENE
SDHD GENE
PARAGANGLIOMA
MUTATIONS
PHEOCHROMOCYTOMAS
CANCER
title_short Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.
title_full Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.
title_fullStr Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.
title_full_unstemmed Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.
title_sort Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.
dc.creator.none.fl_str_mv Cascon Soriano, Alberto
Cebrian, Arancha
Pollan, Marina
Ruiz-Llorente, Sergio
Montero-Conde, Cristina
Leton, Rocio
Gutierrez, Ruth
Lesueur, Fabienne
Milne, Roger L
Gonzalez-Albarran, Olga
Lucas-Morante, Tomas
Benitez, Javier
Ponder, Bruce A J
Robledo Batanero, Mercedes
author Cascon Soriano, Alberto
author_facet Cascon Soriano, Alberto
Cebrian, Arancha
Pollan, Marina
Ruiz-Llorente, Sergio
Montero-Conde, Cristina
Leton, Rocio
Gutierrez, Ruth
Lesueur, Fabienne
Milne, Roger L
Gonzalez-Albarran, Olga
Lucas-Morante, Tomas
Benitez, Javier
Ponder, Bruce A J
Robledo Batanero, Mercedes
author_role author
author2 Cebrian, Arancha
Pollan, Marina
Ruiz-Llorente, Sergio
Montero-Conde, Cristina
Leton, Rocio
Gutierrez, Ruth
Lesueur, Fabienne
Milne, Roger L
Gonzalez-Albarran, Olga
Lucas-Morante, Tomas
Benitez, Javier
Ponder, Bruce A J
Robledo Batanero, Mercedes
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv
dc.subject.none.fl_str_mv RET PROTOONCOGENE
SDHD GENE
PARAGANGLIOMA
MUTATIONS
PHEOCHROMOCYTOMAS
CANCER
topic RET PROTOONCOGENE
SDHD GENE
PARAGANGLIOMA
MUTATIONS
PHEOCHROMOCYTOMAS
CANCER
description Medullary thyroid carcinoma (MTC) is a tumor that arises from parafollicular cells of the thyroid gland. MTC can occur sporadically (75%) or as part of inherited cancer syndromes (25%). In most cases, hereditary MTC evolves from preneoplastic C cell hyperplasia (CCH), so early detection of this pathology would evidently be critical. A recent study reports that alterations in succinate dehydrogenase (SDH) D are responsible for familial non-RET CCH. First, we studied SDHD in two families with hereditary non-RET CCH and found no alterations related to the inheritance of this disease. Then, we investigated whether the H50R variant could be a risk factor in the sporadic development of MTC in both Spanish and English patients. We found no evidence that the presence of the H50R is strongly associated with the risk of sporadic MTC, although we did observe an association with age at diagnosis of MTC in Spanish H50R carriers that we did not find in English patients. Finally, we looked for evidence of CCH or any other thyroid disease in a panel of germ-line SDH (B or D) mutation carriers and found none. We conclude that SDHD variants do not constitute a risk factor for developing CCH or sporadic MTC.
publishDate 2005
dc.date.none.fl_str_mv 2005
2005-04-01
2005
2005-04-01
2025
2025-01-20
dc.type.none.fl_str_mv research article
http://purl.org/coar/resource_type/c_2df8fbb1
AO
http://purl.org/coar/version/c_b1a7d7d4d402bcce
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/20.500.12105/26071
url https://hdl.handle.net/20.500.12105/26071
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
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
application/vnd.openxmlformats-officedocument.wordprocessingml.document
dc.publisher.none.fl_str_mv Endocrine Society
publisher.none.fl_str_mv Endocrine Society
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
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869403122094309376
score 15,812429

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