Non-coding drivers in cancer

Ass. Prof. Esther Rheinbay; Massachusetts General Hospital Cancer Center Harvard Medical School

Advances in next-generation sequencing and application to the protein-coding territory of tumor genomes have greatly expanded our knowledge of somatic mutations in proteins that drive cancer. More and more emerging tumor whole-genome sequences are now enabling us to query the vast non-coding space of the genome for potential drivers in regulatory genomic elements that control gene expression.

In this talk, I will discuss (i) the discovery and functional interpretation of a driver mutation in the promoter of the FOXA1 oncogene in breast cancer; and (ii) a comprehensive survey of non-coding driver candidates in >2,500 tumor whole-genome sequences as part of the Pancancer Analysis of Whole Genomes (PCAWG) project.

Full Abstract