Dataset Information


CTCF/cohesin-binding sites are frequently mutated in cancer

ABSTRACT: Cohesin is present in almost all active enhancer regions, where it is associated with transcription factors. Cohesin frequently colocalizes with CTCF (CCCTC-binding factor), affecting genomic stability, expression and epigenetic homeostasis. Cohesin subunits are mutated in cancer, but CTCF/cohesin-binding sites (CBSs) in DNA have not been examined for mutations. Here we report frequent mutations at CBSs in cancers displaying a mutational signature where mutations in A•T base pairs predominate. Integration of whole-genome sequencing data from 213 colorectal cancer (CRC) samples and chromatin immunoprecipitation sequencing (ChIP-exo) data identified frequent point mutations at CBSs. In contrast, CRCs showing an ultramutator phenotype caused by defects in the exonuclease domain of DNA polymerase ɛ (POLE) displayed significantly fewer mutations at and adjacent to CBSs. Analysis of public data showed that multiple cancer types accumulate CBS mutations. CBSs are a major mutational hotspot in the noncoding cancer genome.

ORGANISM(S): Homo sapiens  

PROVIDER: EGAS00001003010 | EGA |


Similar Datasets

2018-01-01 | S-EPMC5906695 | BioStudies
2014-01-01 | S-EPMC3946358 | BioStudies
1000-01-01 | S-EPMC5394274 | BioStudies
2016-01-01 | S-EPMC4973979 | BioStudies
2020-01-01 | S-EPMC7493976 | BioStudies
2020-01-01 | S-EPMC6964824 | BioStudies
2015-01-01 | S-EPMC4304930 | BioStudies
2009-01-01 | S-EPMC2723750 | BioStudies
2004-01-01 | S-EPMC400671 | BioStudies
1000-01-01 | S-EPMC5786023 | BioStudies