Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.
Ciyu YangSowmya JairamKimberly A AmorosoMark E RobsonMichael F WalshZarina YelskayaPublished in: Breast cancer research and treatment (2017)
Our results indicate that the BRCA1 c.5332+4delA variant contributes to cancer predisposition through disruption of normal mRNA splicing. We classify this variant as likely pathogenic.