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

Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.

Gene - 30 Dec 2017

Hojny Jan, Zemankova Petra, Lhota Filip, Sevcik Jan, Stranecky Viktor, Hartmannova Hana, Hodanova Katerina, Mestak Ondrej, Pavlista David, Janatova Marketa, Soukupova Jana, Vocka Michal, Kleibl Zdenek, Kleiblova Petra

Abstract excerpt

Alternative pre-mRNA splicing increases transcriptome plasticity by forming naturally-occurring alternative splicing variants (ASVs). Alterations of splicing processes, caused by DNA mutations, result in aberrant splicing and the formation of aberrant mRNA isoforms. Analyses of hereditary cancer predisposition genes reveal many DNA variants with unknown clinical significance (VUS) that potentially affect pre-mRNA...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to BRCA1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Breast Neoplasms

Share to Computational Biology

Share to High-Throughput Nucleotide Sequencing

Share to Multiplex Polymerase Chain Reaction

Share to Mutation

Share to RNA Isoforms

Source

Identifiers

PMID: 28919163
DOI: 10.1016/j.gene.2017.09.025

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.PMID 28919163Read ↗

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

Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.Semantic proximity Read ↗

Functional characterization of splice variants in hereditary breast and ovarian cancer susceptibility genes.Semantic proximity Read ↗

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.Semantic proximity Read ↗

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.Semantic proximity Read ↗

Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.Semantic proximity Read ↗

In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.Semantic proximity Read ↗

Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?Semantic proximity Read ↗

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.Semantic proximity Read ↗

Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genesSemantic proximity Read ↗

Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testingSemantic proximity Read ↗

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.Semantic proximity Read ↗

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