Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis

• Main Authors: Anne-Sophie van der Werf't Lam (Author), Noah C. Helderman (Author), Arnoud Boot (Author), Diantha Terlouw (Author), Hans Morreau (Author), Hailian Mei (Author), Rebecca E.E. Esveldt-van Lange (Author), Inge M.M. Lakeman (Author), Christi J. van Asperen (Author), Emmelien Aten (Author), Nandy Hofland (Author), Pia A.M. de Koning Gans (Author), Emily Rayner (Author), Carli Tops (Author), Niels de Wind (Author), Tom van Wezel (Author), Maartje Nielsen (Author)
• Format: Book
• Published: Elsevier, 2024-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Functional analyses are the main method to classify mismatch repair (MMR) gene variants of uncertain significance (VUSs). However, the pathogenicity remains unclear for many variants because of conflicting results between clinical, molecular, and functional data. In this study, we evaluated whether...