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Article

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

PLoS genetics - 1 Mar 2017

Fraile-Bethencourt Eugenia, Díez-Gómez Beatriz, Velásquez-Zapata Valeria, Acedo Alberto, Sanz David J, Velasco Eladio A

Abstract excerpt

Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasing amount of evidence indicates that genetic variants can have deleterious effects on pre-mRNA splicing. Our goal was to investigate the impact on splicing of a set of...

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Source

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Identifiers

PMID: 28339459
DOI: 10.1371/journal.pgen.1006691
PMCID: PMC5384790

Genes

BRCA2
BRCA1

Variants

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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