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Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants.

Eugenia Fraile-BethencourtAlberto Valenzuela-PalomoBeatriz Díez-GómezMar InfanteMercedes DuránGermán MarcosEnrique LastraSusana Gómez-BarreroEladio A Velasco
Published in: Breast cancer research and treatment (2018)
BRCA2 expression is highly sensitive to promoter variations as most of them induced relevant changes. Moreover, we mapped critical regions of the BRCA2 promoter that may constitute potential targets for regulatory variants. Three SNPs moderately decreased luciferase activity, but confirmation of its potential pathogenicity requires further analysis. These data reinforce the need to screen the promoter regions of breast cancer genes with a view to discovering novel deleterious mutations.
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