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Título

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

AutorSanoguera-Miralles, Lara CSIC ORCID CVN; Velasco, Eladio CSIC ORCID
Palabras claveSplicing
Breast cancer
RAD51C
Minigene
Splicing assays
Fecha de publicación31-may-2022
EditorDIGITAL.CSIC
CitaciónSanoguera-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
ResumenThis 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.
URIhttp://hdl.handle.net/10261/270934
DOIhttps://doi.org/10.20350/digitalCSIC/14662
ReferenciasLara 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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