Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database

This dataset corresponds to a comprehensive splicing analysis of splice-site variants of the breast cancer susceptibility gene RAD51C. These variants were reported at the ClinVar database. Loss-of-function variants at the RAD51C gene are known to confer risk to breast and ovarian cancers. A total of...

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Detalles Bibliográficos
Autores: Sanoguera-Miralles, Lara, Velasco, Eladio
Tipo de recurso: conjunto de datos
Fecha de publicación:2022
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/270934
Acceso en línea:http://hdl.handle.net/10261/270934
https://doi.org/10.20350/digitalCSIC/14662
Access Level:acceso abierto
Palabra clave:Splicing
Breast cancer
RAD51C
Minigene
Splicing assays
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spelling Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar databaseSanoguera-Miralles, LaraVelasco, EladioSplicingBreast cancerRAD51CMinigeneSplicing assaysThis dataset corresponds to a comprehensive splicing analysis of splice-site variants of the breast cancer susceptibility gene RAD51C. These variants were reported at the ClinVar database. Loss-of-function variants at the RAD51C gene are known to confer risk to breast and ovarian cancers. A total of 141 RAD51C variants at the intron/exon boundaries were analyzed with MaxEntScan. Twenty variants were selected and genetically engineered into a RAD51C splicing reporter minigene. We found that all the variants disrupted splicing and 16 of them could be classified as likely pathogenic. Hence, they are clinically actionable findings so variant-carriers may benefit from tailored prevention protocols and therapies.EAV lab is supported by grants from the Spanish Ministry of Science and Innovation, Plan Nacional de I+D+I 2013-2016, ISCIII (PI17/00227 and PI20/00225) co-funded by FEDER from Regional Development European Funds (European Union) and from the Consejería de Educación, Junta de Castilla y León, ref. CSI242P18 (actuación cofinanciada P.O. FEDER 2014-2020 de Castilla y León).Peer reviewedDIGITAL.CSICMinisterio de Ciencia e Innovación (España)Instituto de Salud Carlos IIIEuropean CommissionJunta de Castilla y LeónSanoguera-Miralles, Lara [0000-0002-5548-7114]Velasco, Eladio [0000-0002-9682-5589]Velasco, Eladio [eavelsam@ibgm.uva.es]Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]2022202220222022info:eu-repo/semantics/datasethttp://purl.org/coar/resource_type/c_ddb1Para la visualización de archivos de secuencia de extensión .ab1 se requerirá del software apropiado, como poir ejemplo SnapGene Viewer (https://www.snapgene.com/snapgene-viewer/). Para la visualización de archivos de análisis de fragmentos con extensión .fsa se requerirá Peak Scanner v1.0 (https://www.thermofisher.com/order/catalog/product/4381867#/4381867) o similares.http://hdl.handle.net/10261/270934https://doi.org/10.20350/digitalCSIC/14662reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)InglésLara Sanoguera-Miralles, Elena Bueno-Martínez, Alberto Valenzuela-Palomo, Ada Esteban-Sánchez, Inés Llinares-Burguet, Pedro Pérez-Segura, Alicia García-Álvarez, Miguel de la Hoya, Eladio A. Velasco-Sampedro. Minigene splicing assays identify 20 spliceogenic variants of the breast/ovarian cancer susceptibility gene RAD51C [In press].Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/2709342026-05-22T06:33:51Z
dc.title.none.fl_str_mv Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database
title Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database
spellingShingle Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database
Sanoguera-Miralles, Lara
Splicing
Breast cancer
RAD51C
Minigene
Splicing assays
title_short Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database
title_full Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database
title_fullStr Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database
title_full_unstemmed Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database
title_sort Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database
dc.creator.none.fl_str_mv Sanoguera-Miralles, Lara
Velasco, Eladio
author Sanoguera-Miralles, Lara
author_facet Sanoguera-Miralles, Lara
Velasco, Eladio
author_role author
author2 Velasco, Eladio
author2_role author
dc.contributor.none.fl_str_mv Ministerio de Ciencia e Innovación (España)
Instituto de Salud Carlos III
European Commission
Junta de Castilla y León
Sanoguera-Miralles, Lara [0000-0002-5548-7114]
Velasco, Eladio [0000-0002-9682-5589]
Velasco, Eladio [eavelsam@ibgm.uva.es]
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Splicing
Breast cancer
RAD51C
Minigene
Splicing assays
topic Splicing
Breast cancer
RAD51C
Minigene
Splicing assays
description This dataset corresponds to a comprehensive splicing analysis of splice-site variants of the breast cancer susceptibility gene RAD51C. These variants were reported at the ClinVar database. Loss-of-function variants at the RAD51C gene are known to confer risk to breast and ovarian cancers. A total of 141 RAD51C variants at the intron/exon boundaries were analyzed with MaxEntScan. Twenty variants were selected and genetically engineered into a RAD51C splicing reporter minigene. We found that all the variants disrupted splicing and 16 of them could be classified as likely pathogenic. Hence, they are clinically actionable findings so variant-carriers may benefit from tailored prevention protocols and therapies.
publishDate 2022
dc.date.none.fl_str_mv 2022
2022
2022
2022
dc.type.none.fl_str_mv info:eu-repo/semantics/dataset
http://purl.org/coar/resource_type/c_ddb1
format dataset
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/270934
https://doi.org/10.20350/digitalCSIC/14662
url http://hdl.handle.net/10261/270934
https://doi.org/10.20350/digitalCSIC/14662
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Lara Sanoguera-Miralles, Elena Bueno-Martínez, Alberto Valenzuela-Palomo, Ada Esteban-Sánchez, Inés Llinares-Burguet, Pedro Pérez-Segura, Alicia García-Álvarez, Miguel de la Hoya, Eladio A. Velasco-Sampedro. Minigene splicing assays identify 20 spliceogenic variants of the breast/ovarian cancer susceptibility gene RAD51C [In press].
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv Para la visualización de archivos de secuencia de extensión .ab1 se requerirá del software apropiado, como poir ejemplo SnapGene Viewer (https://www.snapgene.com/snapgene-viewer/). Para la visualización de archivos de análisis de fragmentos con extensión .fsa se requerirá Peak Scanner v1.0 (https://www.thermofisher.com/order/catalog/product/4381867#/4381867) o similares.
dc.publisher.none.fl_str_mv DIGITAL.CSIC
publisher.none.fl_str_mv DIGITAL.CSIC
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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