Selection for or against Escape from Nonsense Mediated Decay is a Novel Signature for the Detection of Cancer Genes

Variants that cause new predicted termination codons (PTC), such as frameshift indels and stopgain point mutations (PTC+ variants), normally result in nonsense-mediated mRNA decay (NMD) prior to translation (NMD+) [1]. However, termination codons within 55bp of the final exon-exon junction or within the final exon can escape NMD (NMD-) and result in a truncated or extended peptide. Somatic NMD- variants are known to affect immunogenicity in some tumor types [2], and the ratio of somatic PTC+ variants that are NMD+ or NMD- varies between tumor suppressors and oncogenes due to positive and negative selection on NMD+ variants [3].
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research