The Identification and Interpretation of cis-Regulatory Noncoding Mutations in Cancer.

ABSTRACT: In the need to characterise the genomic landscape of cancers and to establish novel biomarkers and therapeutic targets, studies have largely focused on the identification of driver mutations within the protein-coding gene regions, where the most pathogenic alterations are known to occur. However, the noncoding genome is significantly larger than its protein-coding counterpart, and evidence reveals that regulatory sequences also harbour functional mutations that significantly affect the regulation of genes and pathways implicated in cancer. Due to the sheer number of noncoding mutations (NCMs) and the limited knowledge of regulatory element functionality in cancer genomes, differentiating pathogenic mutations from background passenger noise is particularly challenging technically and comput

SUBMITTER: Patel MB 

PROVIDER: S-EPMC6473693 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature