ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence

Specialty Areas:
Date: June 26, 2025
Authors:
Ada Esteban-Sánchez, Adam Chamberlin, Alicia Gómez-Sanz, Amanda B. Spurdle, Cristina Fortuno, Kyriaki Michailidou, Lobna Ramadane-Morchadi, Marcy E. Richardson, Matthew J. Varga, Miguel de la Hoya, Nitsan Rotenberg, Pedro Pérez-Segura
Journal: American Journal of Human Genetics