Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer.

ABSTRACT: Efforts are being directed to systematically analyze the non-coding regions of the genome for cancer-driving mutations^1-6. cis-regulatory elements (CREs) represent a highly enriched subset of the non-coding regions of the genome in which to search for such mutations. Here we use high-throughput chromosome conformation capture techniques (Hi-C) for 19,023 promoter fragments to catalog the regulatory landscape of colorectal cancer in cell lines, mapping CREs and integrating these with whole-genome sequence and expression data from The Cancer Genome Atlas^7,8. We identify a recurrently mutated CRE interacting with the ETV1 promoter affecting gene expression. ETV1 expression influences cell viability and is associated with patient survival. We further refine our understand

SUBMITTER: Orlando G 

PROVIDER: S-EPMC6380472 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature