Recurrent mutations at estrogen receptor binding sites alter chromatin topology and distal gene expression in breast cancer.

ABSTRACT:

Background

The mutational processes underlying non-coding cancer mutations and their biological significance in tumor evolution are poorly understood. To get better insights into the biological mechanisms of mutational processes in breast cancer, we integrate whole-genome level somatic mutations from breast cancer patients with chromatin states and transcription factor binding events.

Results

We discover that a large fraction of non-coding somatic mutations in estrogen receptor (ER)-positive breast cancers are confined to ER binding sites. Notably, the highly mutated estrogen receptor binding sites are associated with more frequent chromatin loop contacts and the associated distal genes are expressed at higher level. To elucidate the functional significance of these non-codi

SUBMITTER: Yang J 

PROVIDER: S-EPMC6223090 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature