Dataset.
Splicing Functional Assays of CHEK2 splice-site variants identified in the BRIDGES project
Digital.CSIC. Repositorio Institucional del CSIC
oai:digital.csic.es:10261/303246
Digital.CSIC. Repositorio Institucional del CSIC
- Sanoguera-Miralles, Lara
- Bueno-Martínez, Elena
- Valenzuela-Palomo, Alberto
- Velasco, Eladio
This dataset corresponds to a comprehensive study of splice-site variants of the breast cancer susceptibility gene CHEK2. Variant data have been obtained from the large-scale sequencing project BRIDGES that sequenced 34 genes in 113,000 women. A set of 128 CHEK2 variants at the intron-exon boundaries were identified, 52 of which were predicted spliceogenic. These were introduced into the three minigene constructs by site-directed mutagenesis and tested in MCF-7 cells. Forty-six variants impaired splicing, 26 of which were classified as pathogenic/likely pathogenic variants according to ACMG/AMP-based guidelines, so carrier patients and families may benefit from tailored prevention protocols and personalized therapies., Eladio A. Velasco (EAV) has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement no. 634935. 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).
Lara Sanoguera-Miralles is supported by a predoctoral fellowship from the AECC-Scientific Foundation, Sede Provincial de Valladolid (2019–2023). Elena Bueno-Martínez is a postdoctoral researcher funded by the University of Valladolid (POSTDOC-UVA05, 2022-2025)., Folder: cDNA_Sequences. Transcript Sequencing. Sub-Folders: cDNA microdeletions CHEK2 1-7 c.684-2G; cDNA_minigenes CHEK2 1-7; cDNA_minigenes CHEK2 6-10; cDNA_minigenes CHEK2 6-14 WT y mutantes; cDNA_minigenes CHEK2 11-15; cDNA_minigenes WT.-- Folder: Fragment_Analysis. Fluorescent Fragment Analysis. Sub-Folders: Fragment_Analysis_microdeletions CHEK2 1-7 c.684-2G; Fragment_Analysis_minigenes CHEK2 1-7; Fragment_Analysis_minigenes CHEK2 6-10; Fragment_Analysis_minigenes CHEK2 6-14 y mutantes; Fragment_Analysis_minigenes CHEK2 11-15; Fragment_Analysis_minigenes WT.-- Folder: Minigenes_Sequences. Sequence files of wild type and mutant constructs. Sub-folders: Microdeletions_CHEK2 1-7-c.684-2G; Minigene_CHEK2 1-7; Minigene_CHEK2 6-10; Minigene_CHEK2 6-14 WT y mutant; Minigene_CHEK2 11-15; minigene_WT., Peer reviewed
DOI: http://hdl.handle.net/10261/303246, https://doi.org/10.20350/digitalCSIC/15165
Digital.CSIC. Repositorio Institucional del CSIC
oai:digital.csic.es:10261/303246
HANDLE: http://hdl.handle.net/10261/303246, https://doi.org/10.20350/digitalCSIC/15165
Digital.CSIC. Repositorio Institucional del CSIC
oai:digital.csic.es:10261/303246
Ver en: http://hdl.handle.net/10261/303246, https://doi.org/10.20350/digitalCSIC/15165
Digital.CSIC. Repositorio Institucional del CSIC
oai:digital.csic.es:10261/303246
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1 Versiones
1 Versiones
Digital.CSIC. Repositorio Institucional del CSIC
oai:digital.csic.es:10261/303246
Dataset. 2023
SPLICING FUNCTIONAL ASSAYS OF CHEK2 SPLICE-SITE VARIANTS IDENTIFIED IN THE BRIDGES PROJECT
Digital.CSIC. Repositorio Institucional del CSIC
- Sanoguera-Miralles, Lara
- Bueno-Martínez, Elena
- Valenzuela-Palomo, Alberto
- Velasco, Eladio
This dataset corresponds to a comprehensive study of splice-site variants of the breast cancer susceptibility gene CHEK2. Variant data have been obtained from the large-scale sequencing project BRIDGES that sequenced 34 genes in 113,000 women. A set of 128 CHEK2 variants at the intron-exon boundaries were identified, 52 of which were predicted spliceogenic. These were introduced into the three minigene constructs by site-directed mutagenesis and tested in MCF-7 cells. Forty-six variants impaired splicing, 26 of which were classified as pathogenic/likely pathogenic variants according to ACMG/AMP-based guidelines, so carrier patients and families may benefit from tailored prevention protocols and personalized therapies., Eladio A. Velasco (EAV) has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement no. 634935. 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).
Lara Sanoguera-Miralles is supported by a predoctoral fellowship from the AECC-Scientific Foundation, Sede Provincial de Valladolid (2019–2023). Elena Bueno-Martínez is a postdoctoral researcher funded by the University of Valladolid (POSTDOC-UVA05, 2022-2025)., Folder: cDNA_Sequences. Transcript Sequencing. Sub-Folders: cDNA microdeletions CHEK2 1-7 c.684-2G; cDNA_minigenes CHEK2 1-7; cDNA_minigenes CHEK2 6-10; cDNA_minigenes CHEK2 6-14 WT y mutantes; cDNA_minigenes CHEK2 11-15; cDNA_minigenes WT.-- Folder: Fragment_Analysis. Fluorescent Fragment Analysis. Sub-Folders: Fragment_Analysis_microdeletions CHEK2 1-7 c.684-2G; Fragment_Analysis_minigenes CHEK2 1-7; Fragment_Analysis_minigenes CHEK2 6-10; Fragment_Analysis_minigenes CHEK2 6-14 y mutantes; Fragment_Analysis_minigenes CHEK2 11-15; Fragment_Analysis_minigenes WT.-- Folder: Minigenes_Sequences. Sequence files of wild type and mutant constructs. Sub-folders: Microdeletions_CHEK2 1-7-c.684-2G; Minigene_CHEK2 1-7; Minigene_CHEK2 6-10; Minigene_CHEK2 6-14 WT y mutant; Minigene_CHEK2 11-15; minigene_WT., Peer reviewed
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