Epigenomic annotation of noncoding mutations identifies mutated pathways in primary liver cancer.

ABSTRACT: Evidence that noncoding mutation can result in cancer driver events is mounting. However, it is more difficult to assign molecular biological consequences to noncoding mutations than to coding mutations, and a typical cancer genome contains many more noncoding mutations than protein-coding mutations. Accordingly, parsing functional noncoding mutation signal from noise remains an important challenge. Here we use an empirical approach to identify putatively functional noncoding somatic single nucleotide variants (SNVs) from liver cancer genomes. Annotation of candidate variants by publicly available epigenome datasets finds that 40.5% of SNVs fall in regulatory elements. When assigned to specific regulatory elements, we find that the distribution of regulatory element mutation mirrors that o

SUBMITTER: Lowdon RF 

PROVIDER: S-EPMC5363827 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature