ArticleJournal of medical genetics2019
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
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Article in Journal of medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22citing papers in PubMed
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22 citing papers in PubMed, 33 citations in OpenAlex.
- Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome.The Journal of pathology · 2026Article
- Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.The Journal of pathology · 2026Article
- Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47International journal of molecular sciences · 2026Article
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.American journal of human genetics · 2025Article
- RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.European journal of human genetics : EJHG · 2025Review
- TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact.NPJ genomic medicine · 2025Article
- Clinicopathological Features and Oncological Outcomes of Germline Partner and Localizer of Breast Cancer 2-Mutated Breast Cancer in Korea.Journal of breast cancer · 2024Article
- Splicing Dysregulation of Non-Canonical GC-5' Splice Sites of Breast Cancer Susceptibility GenesCancers · 2024Article
- Fine mapping of RNA isoform diversity using an innovative targeted long-read RNA sequencing protocol with novel dedicated bioinformatics pipeline.BMC genomics · 2024Article
- RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis.Human mutation · 2024Article
- Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.American journal of human genetics · 2023Article
- APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.medRxiv : the preprint server for health sciences · 2023Article
- Splicing Analysis of 16Cancers · 2022Article
- Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.The Journal of pathology · 2022Article
- Characterisation of protein-truncating and missense variants inJournal of medical genetics · 2022Article
- Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.The Journal of pathology · 2022Article
- Article
- Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of theCancers · 2020Article
- Functional Characterization ofFrontiers in molecular biosciences · 2020Review
- Article
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Authors and funding
34 authors at 10 institutions in 7 countries.
Irene Lopez-Perolio *Molecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Raphaël Leman *Laboratory of Clinical Biology and Oncology, Centre François Baclesse, Inserm U1245 Genomics and Personalized Medicine in Cancer and Neurological Disorders, Normandy University, Caen, France.
Raquel BeharMolecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Vanessa LattimoreDepartment of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
John F PearsonDepartment of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Laurent CastéraLaboratory of Clinical Biology and Oncology, Centre François Baclesse, Inserm U1245 Genomics and Personalized Medicine in Cancer and Neurological Disorders, Normandy University, Caen, France.
Alexandra MartinsInserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, UNIROUEN, Normandie Université, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Dominique VaurLaboratory of Clinical Biology and Oncology, Centre François Baclesse, Inserm U1245 Genomics and Personalized Medicine in Cancer and Neurological Disorders, Normandy University, Caen, France.
Nicolas GoardonLaboratory of Clinical Biology and Oncology, Centre François Baclesse, Inserm U1245 Genomics and Personalized Medicine in Cancer and Neurological Disorders, Normandy University, Caen, France.
Grégoire DavyLaboratory of Clinical Biology and Oncology, Centre François Baclesse, Inserm U1245 Genomics and Personalized Medicine in Cancer and Neurological Disorders, Normandy University, Caen, France.
Pilar GarreMolecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.ORCID 0000-0001-8285-4138
Vanesa García-BarberánMolecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Patricia LlovetMolecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Pedro Pérez-SeguraMolecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Eduardo Díaz-RubioMolecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Trinidad CaldésMolecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
Kathleen S HruskaGeneDx, Gaithersburg, Maryland, USA.
Vickie HsuanAmbry Genetics, Aliso Viejo, CA, USA.
Sitao WuAmbry Genetics, Aliso Viejo, CA, USA.
Tina PesaranAmbry Genetics, Aliso Viejo, CA, USA.
Rachid KaramAmbry Genetics, Aliso Viejo, CA, USA.
Johan Vallon-ChristerssonDivision of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
Ake BorgDivision of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
kConFab InvestigatorsPeter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Alberto Valenzuela-PalomoSplicing and genetic susceptibility to cancer, Instituto de Biología y Genética Molecular (CSIC-UVa), Valladolid, Spain.
Eladio A VelascoSplicing and genetic susceptibility to cancer, Instituto de Biología y Genética Molecular (CSIC-UVa), Valladolid, Spain.
Melissa SoutheyGenetic Epidemiology Laboratory, Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC, Australia.
Maaike P G VreeswijkDepartment of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.ORCID 0000-0003-4068-9271
Peter DevileeDepartment of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Anders KvistDivision of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
Amanda B SpurdleMolecular Cancer Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, Australia.ORCID 0000-0003-1337-7897
Logan C WalkerDepartment of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Sophie KriegerLaboratory of Clinical Biology and Oncology, Centre François Baclesse, Inserm U1245 Genomics and Personalized Medicine in Cancer and Neurological Disorders, Normandy University, Caen, France.
Miguel de la HoyaMolecular Oncology Laboratory CIBERONC, Hospital Clínico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.ORCID 0000-0002-8113-1410
Instituto de Investigación Sanitaria del Hospital Clínico San Carlos · ESInserm · FRAmbry Genetics (United States) · USLund University · SEUniversity of Otago · NZInstituto de Biomedicina y Genética Molecular de Valladolid · ESLeiden University Medical Center · NLThe University of Melbourne · AUHospital Clínico San Carlos · ESQIMR Berghofer Medical Research Institute · AU
Funding
No grant is acknowledged in the PubMed record.
Abstract
background
methodsAlternative splicing was characterised in RNAs extracted from blood, breast and
resultsWe identified 88 naturally occurring alternative splicing events (81 newly described), including 4 in-frame events predicted relevant to evaluate PVS1 status of splice site variants. We did not identify tissue-specific alternate gene transcripts in breast or ovarian-related samples, supporting the clinical relevance of blood-based splicing studies.
conclusionsPVS1 is not necessarily warranted for splice site variants targeting four
Indexed as
Alternative SplicingGenetic Association StudiesGenetic Predisposition to DiseaseAllelesFanconi Anemia Complementation Group N ProteinGene Expression ProfilingGerm-Line MutationHumansMutationNeoplasmsNonsense Mediated mRNA DecayRNA Splice SitesFanconi Anemia Complementation Group N ProteinPALB2 protein, humanRNA Splice Sitesacmg-amp guidelinespalb2pvs1splicingvariant classification
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LicenceCC BY-NC
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.