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Article

No Evidence for the Pathogenicity of the BRCA2 c.6937 + 594T>G Deep Intronic Variant: A Case-Control Analysis.

Genetic testing and molecular biomarkers - 1 Feb 2018

Dutil Julie, Godoy Lenin, Rivera-Lugo Rafael, Arroyo Nelly, Albino Elinette, Negrón Luis, Monteiro Alvaro N, Matta Jaime L, Echenique Miguel

Abstract excerpt

BACKGROUND: The role of deep intronic variants in hereditary cancer susceptibility has been largely understudied. Previously, the BRCA2 c.6937 + 594T>G variant has been shown to preferentially promote the inclusion of a 95 nucleotide cryptic exon and to introduce a premature termination codon. Our objective was to further assess the pathogenicity of the BRCA2 c.6937 + 594T>G deep intronic variant. PATIENTS AND...

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Identifiers

PMID: 29356578
DOI: 10.1089/gtmb.2017.0187
PMCID: PMC5806076

Genes

BRCA2

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