DR-460- Identifying the mutational burden of tumor specific regulatory elements (REs) in breast cancer

Gene regulation is controlled by regulatory elements (REs) which are present in the non-coding regions of the genome. Accessibility of the genome is a proxy for the location of active REs. DNA motifs at accessible locations indicate which transcription factors can bind there. Mutations in DNA motifs can indicate a changed binding affinity which can affect gene expression. This project focuses on identifying genomic mutations that are overrepresented in BRCA specific REs, identified through ATAC-seq of primary tumors. HMF BRCA data will be used to confirm results, and to investigate the importance of these mutations in the metastatic setting.

Elzo de Wit, Netherlands Cancer Institute