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

Session:
#96
Date:
Tuesday, May 26, 2026 12:00am – 12:00am
Conference:
MSS 2026
Authors:
Ashley P.L. Marsh, Colin Young, PhD, Daniel Zimmerman, Jamie Weyandt, PhD, Kristin Kohler, Magan Trottier, Marcy E. Richardson, Sarah Dugger, Steven Harrison

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).
Abstract Poster