Identification of recurrent noncoding mutations in B-cell lymphoma using capture Hi-C.

ABSTRACT: The identification of driver mutations is fundamental to understanding oncogenesis. Although genes frequently mutated in B-cell lymphoma have been identified, the search for driver mutations has largely focused on the coding genome. Here we report an analysis of the noncoding genome using whole-genome sequencing data from 117 patients with B-cell lymphoma. Using promoter capture Hi-C data in naive B cells, we define cis-regulatory elements, which represent an enriched subset of the noncoding genome in which to search for driver mutations. Regulatory regions were identified whose mutation significantly alters gene expression, including copy number variation at cis-regulatory elements targeting CD69, IGLL5, and MMP14, and single nucleotide variants in a

SUBMITTER: Cornish AJ 

PROVIDER: S-EPMC6325301 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature