Splicing Functional Assays of CHEK2 splice-site variants identified in the BRIDGES project
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 boundarie...
| Autores: | , , , |
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| Tipo de recurso: | conjunto de datos |
| 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:10261/303246 |
| Acceso en línea: | http://hdl.handle.net/10261/303246 https://doi.org/10.20350/digitalCSIC/15165 |
| Access Level: | acceso abierto |
| Palabra clave: | Splicing Breast cancer CHEK2 Minigene Splicing assays |
| Sumario: | 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. |
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