A High Proportion of DNA Variants of <i>BRCA1</i> and <i>BRCA2</i> Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients

Abstract

An important fraction of DNA variants of BRCA1/2 presents splicing aberrations that may represent a relevant disease-causing mechanism in HBOC. The identification of splicing disruptions by functional assays is a valuable tool to discriminate between benign polymorphisms and pathogenic mutations.