Screening of <i>BRCA1/2</i> deep intronic regions by targeted gene sequencing identifies the first germline <i>BRCA1</i> variant causing pseudoexon activation in a patient with breast/ovarian cancer

Abstract

Screening of <i>BRCA1/2</i> intronic regions has identified the first <i>BRCA1</i> deep intronic variant associated with HBOC by pseudoexon activation. Although the frequency of deleterious variants in these regions appears to be low, our study highlights the importance of studying non-coding regions and performing comprehensive RNA assays to complement genetic diagnosis.