Prioritisation of non-coding somatic mutations in cancer

The identification of somatic mutations that play a causal role in tumour development, so called “driver” mutations, is of critical importance for understanding how cancers form and how they might be treated. Several large whole exome sequencing projects have identified genes that are recurrently mutated in cancer patients, indicating a possible causal role in tumourogenesis. While the landscape of coding drivers has been extensively studied and many of the most prominent driver genes are well characterised, comparatively less is known about what driver mutations may reside in the non-coding regions of the genome. Using mutations identified in over 1300 whole cancer genomes, I have identified regions, both coding and non-coding, that are recurrent targets of somatic mutations in cancer. Using both recurrence and information on evolutionary conservation to score regions of the genome as potential driver mutations, I have identified putative driver regions that include both well known drivers as well as novel recurrently mutated regions.