Comprehensive analysis of cancer breakpoints reveals signatures of genetic and epigenetic contribution to cancer genome rearrangements.

ABSTRACT: Understanding mechanisms of cancer breakpoint mutagenesis is a difficult task and predictive models of cancer breakpoint formation have to this time failed to achieve even moderate predictive power. Here we take advantage of a machine learning approach that can gather important features from big data and quantify contribution of different factors. We performed comprehensive analysis of almost 630,000 cancer breakpoints and quantified the contribution of genomic and epigenomic features-non-B DNA structures, chromatin organization, transcription factor binding sites and epigenetic markers. The results showed that transcription and formation of non-B DNA structures are two major processes responsible for cancer genome fragility. Epigenetic factors, such as chromatin organization in TADs, open

SUBMITTER: Cheloshkina K 

PROVIDER: S-EPMC7951985 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature