Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.

International journal of molecular sciences - 4 Jul 2022

Dragoš Vita Šetrajčič, Strojnik Ksenija, Klančar Gašper, Škerl Petra, Stegel Vida, Blatnik Ana, Banjac Marta, Krajc Mateja, Novaković Srdjan

Abstract excerpt

Pathogenic/likely pathogenic variants in susceptibility genes that interrupt RNA splicing are a well-documented mechanism of hereditary cancer syndromes development. However, if RNA studies are not performed, most of the variants beyond the canonical GT-AG splice site are characterized as variants of uncertain significance (VUS). To decrease the VUS burden, we have bioinformatically evaluated all novel VUS...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Predisposition to Disease
Share to Introns

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Neoplasms

Share to RNA, Messenger

Share to RNA Splice Sites

Share to RNA Splicing

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 35806449
DOI: 10.3390/ijms23137446
PMCID: PMC9267136

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.PMID 35806449Read ↗

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.Semantic proximity Read ↗

Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines.Semantic proximity Read ↗

Pathogenic Germline Variants in 10,389 Adult Cancers.Semantic proximity Read ↗

Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases?Semantic proximity Read ↗

Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer.Semantic proximity Read ↗

Aberrant RNA splicing as the molecular basis of some pathogenic variants.Semantic proximity Read ↗

Reclassification of Splicing Gene Variants in Hereditary Cancer: Cases Report and Literature Review.Semantic proximity Read ↗

Pan-cancer repository of validated natural and cryptic mRNA splicing mutationsSemantic proximity Read ↗

Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options.Semantic proximity Read ↗

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.Semantic proximity Read ↗

Genome-wide detection of human variants that disrupt intronic branchpointsSemantic proximity Read ↗

Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.