Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing

© 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

Detalles Bibliográficos
Autores: Tous, Cristina, Muñoz-Redondo, Carmen, Bravo-Gil, Nereida, Gavilán, Ángela, Fernández, Raquel M., Antiñolo, Juan, Navarro González, Elena, Antiñolo, Guillermo, Borrego, Salud
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/350853
Acceso en línea:http://hdl.handle.net/10261/350853
Access Level:acceso abierto
Palabra clave:Next-generation sequencing
Whole exome sequencing
Thyroid cancer
Hereditary cancer
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spelling Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome SequencingTous, CristinaMuñoz-Redondo, CarmenBravo-Gil, NereidaGavilán, ÁngelaFernández, Raquel M.Antiñolo, JuanNavarro González, ElenaAntiñolo, GuillermoBorrego, SaludNext-generation sequencingWhole exome sequencingThyroid cancerHereditary cancer© 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).Thyroid carcinoma (TC) can be classified as medullary (MTC) and non-medullary (NMTC). While most TCs are sporadic, familial forms of MTC and NMTC also exist (less than 1% and 3–9% of all TC cases, respectively). Germline mutations in RET are found in more than 95% of familial MTC, whereas familial NMTC shows a high degree of genetic heterogeneity. Herein, we aimed to identify susceptibility genes for familial NMTC and non-RET MTC by whole exome sequencing in 58 individuals belonging to 18 Spanish families with these carcinomas. After data analysis, 53 rare candidate segregating variants were identified in 12 of the families, 7 of them located in previously TC-associated genes. Although no common mutated genes were detected, biological processes regulating functions such as cell proliferation, differentiation, survival and adhesion were enriched. The reported functions of the identified genes together with pathogenicity and structural predictions, reinforced the candidacy of 36 of them, suggesting new loci related to TC and novel genotype–phenotype correlations. Therefore, our strategy provides clues to possible molecular mechanisms underlying familial forms of MTC and NMTC. These new molecular findings and clinical data of patients may be helpful for the early detection, development of tailored therapies and optimizing patient management.This work was supported by the Instituto de Salud Carlos III (ISCIII), Spanish Ministry of Economy and Competitiveness, Spain and co-funded by the European Union (ERDF, “A Way to Make Europe”) (PI19-01550, PI22-01428), the strategic plan for the Precision Medicine Infrastructure associated with Science and Technology—IMPaCT (IMP-0009) and Regional Ministry of Health and Families of the Autonomous Government of Andalusia (PEER-0470-2019), I+D+i Funding-PAIDI2020 of University of Seville (P20_00887). C.M.-R. is supported by fellowship FI20/00192 from ISCIII (ESF. “Investing in Your future”).Peer reviewedMultidisciplinary Digital Publishing InstituteInstituto de Salud Carlos IIIMinisterio de Economía y Competitividad (España)European CommissionJunta de AndalucíaUniversidad de SevillaConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202420242023info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/350853reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)InglésThe underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.3390/ijms24097843https://doi.org/10.3390/ijms24097843Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3508532026-05-22T06:33:51Z
dc.title.none.fl_str_mv Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing
title Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing
spellingShingle Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing
Tous, Cristina
Next-generation sequencing
Whole exome sequencing
Thyroid cancer
Hereditary cancer
title_short Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing
title_full Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing
title_fullStr Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing
title_full_unstemmed Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing
title_sort Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing
dc.creator.none.fl_str_mv Tous, Cristina
Muñoz-Redondo, Carmen
Bravo-Gil, Nereida
Gavilán, Ángela
Fernández, Raquel M.
Antiñolo, Juan
Navarro González, Elena
Antiñolo, Guillermo
Borrego, Salud
author Tous, Cristina
author_facet Tous, Cristina
Muñoz-Redondo, Carmen
Bravo-Gil, Nereida
Gavilán, Ángela
Fernández, Raquel M.
Antiñolo, Juan
Navarro González, Elena
Antiñolo, Guillermo
Borrego, Salud
author_role author
author2 Muñoz-Redondo, Carmen
Bravo-Gil, Nereida
Gavilán, Ángela
Fernández, Raquel M.
Antiñolo, Juan
Navarro González, Elena
Antiñolo, Guillermo
Borrego, Salud
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Instituto de Salud Carlos III
Ministerio de Economía y Competitividad (España)
European Commission
Junta de Andalucía
Universidad de Sevilla
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Next-generation sequencing
Whole exome sequencing
Thyroid cancer
Hereditary cancer
topic Next-generation sequencing
Whole exome sequencing
Thyroid cancer
Hereditary cancer
description © 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
publishDate 2023
dc.date.none.fl_str_mv 2023
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/350853
url http://hdl.handle.net/10261/350853
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv The underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.3390/ijms24097843
https://doi.org/10.3390/ijms24097843
Sí
dc.rights.none.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 Multidisciplinary Digital Publishing Institute
publisher.none.fl_str_mv Multidisciplinary Digital Publishing Institute
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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