ArticleCancer genomics & proteomics
Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer.
Article in Cancer genomics & proteomics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 12 citations in OpenAlex.
- Paired DNA/RNA testing uncovers a deep intronicFrontiers in oncology · 2025Article
- Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing.Genetics in medicine open · 2025Article
- Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing.JAMA oncology · 2024Article
- Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.American journal of human genetics · 2023Article
- Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrum.Human mutation · 2022Review
- Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.NPJ genomic medicine · 2022Article
- RNA Analysis and Clinical Characterization of a Novel Splice Variant in theFrontiers in pediatrics · 2022Article
- What's Wrong in a Jump? Prediction and Validation of Splice Site Variants.Methods and protocols · 2021Review
- Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing.Cancer genomics & proteomicsArticle
Corrections and comments
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Authors and funding
21 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundClassification of splicing variants (SVs) in genes associated with hereditary cancer is often challenging. The aim of this study was to investigate the occurrence of SVs in hereditary cancer genes and the clinical utility of RNA analysis. MATERIAL AND
methods1518 individuals were tested for cancer predisposition, using a Next Generation Sequencing (NGS) panel of 36 genes. Splicing variant analysis was performed using RT-PCR and Sanger Sequencing.
resultsIn total, 34 different SVs were identified, 53% of which were classified as pathogenic or likely pathogenic. The remaining 16 variants were initially classified as Variant of Uncertain Significance (VUS). RNA analysis was performed for 3 novel variants.
conclusionThe RNA analysis assisted in the reclassification of 20% of splicing variants from VUS to pathogenic. RNA analysis is essential in the case of uncharacterized splicing variants, for proper classification and personalized management of these patients.
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