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Article

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

Breast cancer research and treatment - 1 Aug 2018

Fraile-Bethencourt Eugenia, Valenzuela-Palomo Alberto, Díez-Gómez Beatriz, Infante Mar, Durán Mercedes, Marcos Germán, Lastra Enrique, Gómez-Barrero Susana, Velasco Eladio A

Abstract excerpt

PURPOSE: Promoter mutations may affect transcription and can be associated with human diseases. However, the promoters of the breast cancer (BC) genes are not regularly screened. Our goal was to investigate the BRCA2 promoter in order to study a possible correlation between impaired transcription and disease. METHODS: The proximal and core promoter of the BRCA2 gene was sequenced in 95 high-risk BC patients. A...

Topics

Alleles
BRCA2 Protein
Female
Gene Expression Regulation
Gene Order
Genes, Reporter
Genetic Predisposition to Disease
Genetic Variation
Genetic Vectors
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Polymorphism, Single Nucleotide

Promoter Regions, Genetic

Transcription, Genetic

Source

Identifiers

PMID: 29766361
DOI: 10.1007/s10549-018-4826-7

Genes

BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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