45P Characterizing the impact of pathogenic BRCA mutations on tissue-specific gene expression and pre-mRNA splicing

Abstract

It is well established that the regulation of pre-mRNA splicing is highly tissue specific. However, whether breast cancer-predisposing splicing defects observed in blood cells also occur in other cell types, namely in stem cells from which tumors are likely to originate, remains to be established. The aim of this study was to characterize BRCA1/2 mRNAs expressed in different primary cell types derived from normal individuals and heterozygous carriers of the pathogenic Portuguese BRCA2 c.156_157insAlu founder mutation that leads to an in-frame skipping of exon 3.