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Título: | Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database |
Autor: | Sanoguera-Miralles, Lara CSIC ORCID CVN; Velasco, Eladio CSIC ORCID | Palabras clave: | Splicing Breast cancer RAD51C Minigene Splicing assays |
Fecha de publicación: | 31-may-2022 | Editor: | DIGITAL.CSIC | Citación: | Sanoguera-Miralles, Lara; Velasco, Eladio; 2022; Splicing Functional Assays of RAD51C splice-site variants reported at the ClinVar database; DIGITAL.CSIC; https://doi.org/10.20350/digitalCSIC/14662 | Resumen: | 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. | URI: | http://hdl.handle.net/10261/270934 | DOI: | https://doi.org/10.20350/digitalCSIC/14662 | Referencias: | 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]. |
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Repository_RAD51C-ClinVar.zip | 22,84 MB | Unknown | Visualizar/Abrir | |
readme.txt | 8,36 kB | Text | Visualizar/Abrir |
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