Session # 096

Clinical impact of integrating BRCA2 MAVE data for variant reclassification: A real‑world evaluation

Presenting Author: Kristin Kohler, PhD

Take home points: 

1. This study provides one of the first large-scale, real-world applications of MAVE data integration into a clinical workflow.
2. Integration of BRCA2 MAVE functional evidence resulted in resolution of 54% of VUS within the BRCA2 DBD.
3. These reclassifications impacted 4,362 patients and resulted in cascade testing of 24 individuals across 13 families (14 additional positive results).

• Authors: Kristin Kohler; Ashley P.L. Marsh; Colin Young; Jamie Weyandt; Sarah Dugger; Daniel Zimmerman; Magan Trottier; Steven Harrison; Marcy E. Richardson
• Conference: MSS 2026
• Date: Thursday, Mar 26, 2026 5:30pm - 7:30pm