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Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.

Human mutation - 1 Sept 2018

Montalban Gemma, Fraile-Bethencourt Eugenia, López-Perolio Irene, Pérez-Segura Pedro, Infante Mar, Durán Mercedes, Alonso-Cerezo María Concepción, López-Fernández Adrià, Diez Orland, de la Hoya Miguel, Velasco Eladio A, Gutiérrez-Enríquez Sara

Abstract excerpt

Many BRCA1 and BRCA2 (BRCA1/2) genetic variants have been studied at mRNA level and linked to hereditary breast and ovarian cancer due to splicing alteration. In silico tools are reliable when assessing variants located in consensus splice sites, but we may identify variants in complex genomic contexts for which bioinformatics is not precise enough. In this study, we characterize BRCA2 c.7976 + 5G > T variant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29969168
DOI: 10.1002/humu.23583

Genes

BRCA2
BRCA1

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