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Article

The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding.

Breast cancer research and treatment - 1 Apr 2010

Millevoi Stefania, Bernat Sandra, Telly Dominique, Fouque Françoise, Gladieff Laurence, Favre Gilles, Vagner Stéphan, Toulas Christine

Abstract excerpt

Several unclassified variants (UV) of BRCA1 can be deleterious by affecting normal pre-mRNA splicing. Here, we investigated the consequences at the mRNA level of the frequently encountered c.5242C>A UV in BRCA1 exon 18. We show that the c.5242C>A variant induces skipping of exon 18 in UV carriers and in vitro. This alteration predicted to disrupt the first BRCT domain of BRCA1. We show that two splicing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19404736
DOI: 10.1007/s10549-009-0392-3

Genes

BRCA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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