Article

Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts

2025-11-22

Abstract excerpt

Interpreting protein-truncating variants predicted to escape nonsense-mediated decay (NMDe) based on the 50-bp rule is challenging due to their variable consequences. The Clinical Genome Resource, Cancer Genomics Consortium, and Variant Interpretation for Cancer Consortium recommendations focus on tumor suppressor genes where NMDe variants may result in loss-of-function. However, guidance for interpreting NMDe var...

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Literature Corpus work: 633cf29e-f4f2-5da1-933c-76ce59516a00
DOI: 10.1101/2025.11.20.25340490

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