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Article

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.

European journal of human genetics : EJHG - 1 Oct 2011

Théry Jean Christophe, Krieger Sophie, Gaildrat Pascaline, Révillion Françoise, Buisine Marie-Pierre, Killian Audrey, Duponchel Christiane, Rousselin Antoine, Vaur Dominique, Peyrat Jean-Philippe, Berthet Pascaline, Frébourg Thierry, Martins Alexandra, Hardouin Agnès, Tosi Mario

Abstract excerpt

A large fraction of sequence variants of unknown significance (VUS) of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 may induce splicing defects. We analyzed 53 VUSs of BRCA1 or BRCA2, detected in consecutive molecular screenings, by using five splicing prediction programs, and we classified them into two groups according to the strength of the predictions. In parallel, we tested them by...

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Source

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Identifiers

PMID: 21673748
DOI: 10.1038/ejhg.2011.100
PMCID: PMC3190263

Genes

BRCA2
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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