Article
Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis.
Experimental and molecular pathology - 1 Dec 2024
van der Werf't Lam Anne-Sophie, Helderman Noah C, Boot Arnoud, Terlouw Diantha, Morreau Hans, Mei Hailian, Esveldt-van Lange Rebecca E E, Lakeman Inge M M, van Asperen Christi J, Aten Emmelien, Hofland Nandy, de Koning Gans Pia A M, Rayner Emily, Tops Carli, de Wind Niels, van Wezel Tom, Nielsen Maartje
Abstract excerpt
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 whole exome sequencing (WES) could add another layer of evidence to elucidate the pathogenicity of MMR variants with...
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