{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Valenzuela-Palomo A"],"funding":["Asociación Española Contra el Cáncer","Instituto de Salud Carlos III","Junta de Castilla y León","Comunidad de Madrid","University of Valladolid"],"pagination":["4541"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9496955"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(18)"],"pubmed_abstract":["<i>PALB2</i> loss-of-function variants are associated with significant increased risk of breast cancer as well as other types of tumors. Likewise, splicing disruptions are a common mechanism of disease susceptibility. Indeed, we previously showed, by minigene assays, that 35 out of 42 <i>PALB2</i> variants impaired splicing. Taking advantage of one of these constructs (mgPALB2_ex1-3), we proceeded to analyze other variants at exons 1 to 3 reported at the ClinVar database. Thirty-one variants were bioinformatically analyzed with MaxEntScan and SpliceAI. Then, 16 variants were selected for subsequent RNA assays. We identified a total of 12 spliceogenic variants, 11 of which did not produce any trace of the expected minigene full-length transcript. Interestingly, variant c.49-1G &gt; A mimick"],"journal":["Cancers"],"pubmed_title":["Splicing Analysis of 16 <i>PALB2</i> ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants."],"pmcid":["PMC9496955"],"funding_grant_id":["Predoctoral fellowship IL-B","AE-S: Operational Program for Youth Employment and the Youth Employment Initiative","PI20/00110","Postdoctoral researcher EB-M (POSTDOC-UVA05, 2022-2025)","Predoctoral fellowship LS-M","PI20/00225","CSI242P18"],"pubmed_authors":["Velasco-Sampedro EA","Sanoguera-Miralles L","Esteban-Sanchez A","Perez-Segura P","Llinares-Burguet I","Gomez-Barrero S","Garcia-Alvarez A","Valenzuela-Palomo A","Bueno-Martinez E","de la Hoya M"],"additional_accession":[]},"is_claimable":false,"name":"Splicing Analysis of 16 <i>PALB2</i> ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.","description":"<i>PALB2</i> loss-of-function variants are associated with significant increased risk of breast cancer as well as other types of tumors. Likewise, splicing disruptions are a common mechanism of disease susceptibility. Indeed, we previously showed, by minigene assays, that 35 out of 42 <i>PALB2</i> variants impaired splicing. Taking advantage of one of these constructs (mgPALB2_ex1-3), we proceeded to analyze other variants at exons 1 to 3 reported at the ClinVar database. Thirty-one variants were bioinformatically analyzed with MaxEntScan and SpliceAI. Then, 16 variants were selected for subsequent RNA assays. We identified a total of 12 spliceogenic variants, 11 of which did not produce any trace of the expected minigene full-length transcript. Interestingly, variant c.49-1G &gt; A mimick","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2025-04-22T00:36:54.713Z","creation":"2025-04-05T19:38:42.087Z"},"accession":"S-EPMC9496955","cross_references":{"pubmed":["36139699"],"doi":["10.3390/cancers14184541"]}}