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Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants

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Valenzuela-Palomo, Alberto & Sanoguera-Miralles, Lara & Bueno-Martínez, Elena & Esteban Sánchez, Ada & Llinares Burguet, Inés & García Álvarez, Alicia & Pérez Segura, Pedro & Gómez Barrero, Susana & de la Hoya, Miguel & Velasco Sampedro, Eladio A. (2022-09 ) .Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.

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Valenzuela-Palomo, Alberto & Sanoguera-Miralles, Lara & Bueno-Martínez, Elena & Esteban Sánchez, Ada & Llinares Burguet, Inés & García Álvarez, Alicia & Pérez Segura, Pedro & Gómez Barrero, Susana & de la Hoya, Miguel & Velasco Sampedro, Eladio A.. 2022-09 .Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.

https://hdl.handle.net/20.500.12080/39416
dc.contributor.author Valenzuela-Palomo, Alberto
dc.contributor.author Sanoguera-Miralles, Lara
dc.contributor.author Bueno-Martínez, Elena
dc.contributor.author Esteban Sánchez, Ada
dc.contributor.author Llinares Burguet, Inés
dc.contributor.author García Álvarez, Alicia
dc.contributor.author Pérez Segura, Pedro
dc.contributor.author Gómez Barrero, Susana
dc.contributor.author de la Hoya, Miguel
dc.contributor.author Velasco Sampedro, Eladio A.
dc.date.accessioned 2024-01-30T11:39:53Z
dc.date.available 2024-01-30T11:39:53Z
dc.date.created 2022-09
dc.date.issued 2022-09
dc.identifier.uri https://hdl.handle.net/20.500.12080/39416
dc.description.abstract PALB2 pathogenic variants confer high risk of breast cancer. Here, we have analyzed the impact of PALB2 variants on splicing, a gene expression step that removes introns to form the mature messenger RNA. This process is performed by the splicing machinery through the recognition of specific sequences, namely the 30 and 50 splice sites, which determine the exon ends. Variants at these sequences may trigger anomalous splicing and aberrant transcripts that may be associated with a disease. To test the impact of variants on splicing, we used a biotechnological tool called minigene, which replicates, at small-scale, the human gene of interest. Thus, we checked 16 PALB2 variants at the intron/exon boundaries using the minigene mgPALB2_ex1-3. We found that twelve variants disrupted splicing, six of which could be classified as likely pathogenic. These results facilitate the clinical management of carrier patients and families since they may benefit from tailored prevention protocols and therapies. es_ES
dc.format application/pdf es_ES
dc.language eng es_ES
dc.rights CC-BY es_ES
dc.rights.uri http://creativecommons.org/licenses/by/4.0/deed.es es_ES
dc.title Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.rights.accessrights info:eu-repo/semantics/openAccess es_ES
dc.identifier.location N/A es_ES


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