Collaborator: University of Alabama at Birmingham

• Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

  Abstract Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patients with suspected hereditary cancer syndromes remaining without a molecular diagnosis. To address this, we used capture RNA-sequencing (RNA-seq) to generate a…

• Concurrent DNA and RNA genetic testing identifies more patients with hereditary breast cancer than DNA testing alone

  April 2, 2026

• A nationwide multi-center study provides insight into the increase in clinically actionable results from concurrent DNA and RNA genetic testing

  April 2, 2026