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Article

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.

Breast cancer research and treatment - 1 Apr 2012

Menéndez Mireia, Castellsagué Joan, Mirete Marc, Pros Eva, Feliubadaló Lídia, Osorio Ana, Calaf Mónica, Tornero Eva, del Valle Jesús, Fernández-Rodríguez Juana, Quiles Francisco, Salinas Mónica, Velasco Angela, Teulé Alex, Brunet Joan, Blanco Ignacio, Capellá Gabriel, Lázaro Conxi

Abstract excerpt

Comprehensive genetic testing of the breast cancer susceptibility genes BRCA1 and BRCA2 identified approximately 16% of variants of unknown significance (VUS), a significant proportion of which could affect the correct splicing of the genes. Our aim is to establish a workflow for classifying VUS in these complex genes, the first stage of which is splicing analysis. We used a combined approach consisting of five...

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Source

Identifiers

PMID: 21735045
DOI: 10.1007/s10549-011-1661-5

Genes

BRCA1
BRCA2

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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.

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