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Article

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

European journal of human genetics : EJHG - 1 Nov 2009

Caux-Moncoutier Virginie, Pagès-Berhouet Sabine, Michaux Dorothée, Asselain Bernard, Castéra Laurent, De Pauw Antoine, Buecher Bruno, Gauthier-Villars Marion, Stoppa-Lyonnet Dominique, Houdayer Claude

Abstract excerpt

Nearly one-half of BRCA1 and BRCA2 sequence variations are variants of uncertain significance (VUSs) and are candidates for splice alterations for example, by disrupting/creating splice sites. As out-of-frame splicing defects lead to a marked reduction of the level of the mutant mRNA cleared through nonsense-mediated mRNA decay, a cDNA-based test was developed to show the resulting allelic imbalance (AI)....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Regulatory Elements, Transcriptional

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Source

Open in PubMed Open full text

Identifiers

PMID: 19471317
DOI: 10.1038/ejhg.2009.89
PMCID: PMC2986693

Genes

BRCA1
BRCA2

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.

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