Incorporating mutational heterogeneity to identify genes that are enriched for synonymous mutations in cancer.

ABSTRACT:

Background

Synonymous mutations, which change the DNA sequence but not the encoded protein sequence, can affect protein structure and function, mRNA maturation, and mRNA half-lives. The possibility that synonymous mutations might be enriched in cancer has been explored in several recent studies. However, none of these studies control for all three types of mutational heterogeneity (patient, histology, and gene) that are known to affect the accurate identification of non-synonymous cancer-associated genes. Our goal is to adopt the current standard for non-synonymous mutations in an investigation of synonymous mutations.

Results

Here, we create an algorithm, MutSigCVsyn, an adaptation of MutSigCV, to identify cancer-associated genes that are enriched for synonymous mutations b

SUBMITTER: Rao Y 

PROVIDER: S-EPMC10704839 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature