A team of UNSW medical scientists have discovered that DNA repair is compromised at important regions of our genome, shedding new light on how cancers develop in the human body.
Repairing damage in DNA from anything that causes a mutation, such as UV radiation and tobacco smoke, is a fundamental process that protects our cells from becoming cancerous.
Lead author of the study and TCRN member Dr Jason Wong; group leader of Bioinformatics and Integrative Genomics at the Lowy Cancer Research Centre, said the results provide compelling evidence that increased mutations at gene promoter sites are caused by a compromised nucleotide excision repair ("NER") system.
The study, published in journal Nature, analysed more than 20 million DNA mutations from 1,161 tumours across 14 cancer types. They found that in many cancer types, especially skin cancers, the number of mutations was particular high in regions of the genome known as ‘gene promoters’. Significantly, these DNA sequences control how genes are expressed which in turn determine cell type and function.
The team involved Dilmi Perera, Rebecca Poulos, Anushi Shah, Dominik Beck, John Pimanda and Jason Wong.
Repairing DNA damage in the human body – new insights into how cancers develop