Research Fellows Directory
Dr Simon Boulton EMBO Member
Cancer Research UK (LRI & clinical units)
DNA is highly susceptible to damage and must be repaired correctly to prevent genome instability. Failure to correctly repair DNA damage is the underlying cause of a number of hereditary cancer predisposition syndromes such as Fanconi anemia and Blooms. The long-term aim of my lab is to understand how DNA double-strand break (DSB) repair pathways, such as non-homologous end joining (NHEJ) and homologous recombination (HR), are regulated in cells =. We also have an active interest in understanding how these pathways impact on human diseases such as cancer. During the course of this study we have gained insight into the function of a DNA processing enzyme called RTEL1. We showed that this factor is critical for preventing toxic DNA repair and also functions to maintain the ends of linear chromosomes. Our studies of RTEL1 have important clinical implications as mutations in RTEL1 were recently implicated in predisposition to various brain cancers. Furthermore, RTEL1 mutations also cause the hereditary disorder, Hoyeraal-Hreidarsson syndrome, a severe form of the cancer-predisposition syndrome Dyskeritosis Congenita. Our work on how breaks in DNA are repaired has provided new information about how the breast and ovarian cancer genes, Rad51B and Rad51C, likely work to promote accurate DNA repair by homologous recombination. Overall, our work on DNA repair has provided new insights, which may have important clinical implications.