The Semple Lab

We still know relatively little about the evolution of gene regulation in cancer. Vera’s study (Kaiser et al, 2016, PLOS Genet) is one of the biggest so far (~1500 tumour whole genomes) and shows that there are remarkably high mutation rates and rapid evolution at most (putatively) functional regulatory sites, and she sees this across many cancer types. Particularly striking contrasts are seen between functional (upper graph) and control (lower graph) CTCF binding sites. However these patterns seem to be adequately explained simply by ‘blind’ mutational bias (ie neutral evolution), rather than active selection for particular alterations to regulation.