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Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.


ABSTRACT: Once called "silent mutations" and assumed to have no effect on protein structure and function, synonymous variants are now recognized to be drivers for some cancers. There have been significant advances in our understanding of the numerous mechanisms by which synonymous single nucleotide variants (sSNVs) can affect protein structure and function by affecting pre-mRNA splicing, mRNA expression, stability, folding, micro-RNA binding, translation kinetics, and co-translational folding. This review highlights the need for considering sSNVs in cancer biology to gain a better understanding of the genetic determinants of human cancers and to improve their diagnosis and treatment. We surveyed the literature for reports of sSNVs in cancer and found numerous studies on the consequences of sSNVs on

SUBMITTER: Kaissarian NM 

PROVIDER: S-EPMC9360466 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature