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

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

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...

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Main Authors: Anne-Sophie van der Werf't Lam, Noah C. Helderman, Arnoud Boot, Diantha Terlouw, Hans Morreau, Hailian Mei, Rebecca E.E. Esveldt-van Lange, Inge M.M. Lakeman, Christi J. van Asperen, Emmelien Aten, Nandy Hofland, Pia A.M. de Koning Gans, Emily Rayner, Carli Tops, Niels de Wind, Tom van Wezel, Maartje Nielsen
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Experimental and Molecular Pathology
Subjects:
Whole exome sequencing
Variant of unknown significance
Reclassification pathogenicity
Mismatch repair deficiency
Mutational signature
Lynch syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S0014480024000595
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