Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.

ABSTRACT:

Introduction

Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele. We have previously reported that BRCA2 shows differential allelic expression and we hypothesize that the known variable penetrance of BRCA2 mutations might be associated with this mechanism.

Methods

We combined haplotype analysis and differential allelic expression of BRCA2 in breast tissue to identify expression haplotypes and candidate cis-regulatory variants. These candidate variants underwent selection based on in silico predictions for regulatory potential and disruption of transcription factor binding, and were functionally analyzed in vitro and in

SUBMITTER: Maia AT 

PROVIDER: S-EPMC3446398 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature