Evidence map›Paper›PMID 35806449›Full record

ArticleInternational journal of molecular sciences2022

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

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

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 53% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 2 institutions in 1 country.

Vita Šetrajčič DragošDepartment of Molecular Diagnostics, Institute of Oncology Ljubljana, SI-1000 Ljubljana, Slovenia.ORCID 0000-0002-7902-8879
Ksenija StrojnikCancer Genetics Clinic, Institute of Oncology Ljubljana, SI-1000 Ljubljana, Slovenia.
Gašper KlančarDepartment of Molecular Diagnostics, Institute of Oncology Ljubljana, SI-1000 Ljubljana, Slovenia.ORCID 0000-0002-7154-2144
Petra ŠkerlDepartment of Molecular Diagnostics, Institute of Oncology Ljubljana, SI-1000 Ljubljana, Slovenia.
Vida StegelDepartment of Molecular Diagnostics, Institute of Oncology Ljubljana, SI-1000 Ljubljana, Slovenia.
Ana BlatnikBiotechnical Faculty, University of Ljubljana, SI-1000 Ljubljana, Slovenia.
Marta BanjacCancer Genetics Clinic, Institute of Oncology Ljubljana, SI-1000 Ljubljana, Slovenia.
Mateja KrajcCancer Genetics Clinic, Institute of Oncology Ljubljana, SI-1000 Ljubljana, Slovenia.
Srdjan NovakovićDepartment of Molecular Diagnostics, Institute of Oncology Ljubljana, SI-1000 Ljubljana, Slovenia.ORCID 0000-0002-8888-4810
Institute of Oncology Ljubljana · SIUniversity of Ljubljana · SI

Funding

Slovenian Research Agency P3-0352
6 · The paper itself

Abstract

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 detected in 732 consecutive patients tested in the routine genetic counseling process. Twelve VUS that were predicted to cause splicing defects were selected for mRNA analysis. Here, we report a functional characterization of 12 variants located beyond the first two intronic nucleotides using RNAseq in

Indexed as

Genetic Predisposition to DiseaseNeoplasmsHumansIntronsMutationRNA, MessengerRNA Splice SitesRNA SplicingTranscription FactorsLZTR1 protein, humanRNA, MessengerRNA Splice SitesTranscription Factorsaberrant splicingdeep intronic variantshereditary cancer syndromein silico prediction toolspseudoexonreclassificationRNAseqspliceogenicspliceogenic variantsplice variantVUSVUS reclassification

Identifiers

PMID35806449
PMCPMC9267136
OpenAlexW4283799958

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.