Approved Research

The identification of insertion/deletions in cancer genomes to establish new bio markers

Lay summary

Many studies have shown that changes in our genomes can accumulate during cancer. Identifying these changes might tell us how specific patients will respond to specific treatments or even provide information on what stage they are in the cancer process. We plan to use the UK Biobank data to identify regions in the genome where these changes are present. By associating our findings with the clinical characteristics of the participants, we plan to build a model that could help us predict cancer risk in individuals. Our algorithm for mutation detection is unique because we are looking specific types of mutations that have not been looked at before. Using the  United States National Institute of Health - The Cancer Genome Atlas (TCGA) database we have already detected novel mutation signatures for cancer diagnostics. These results can be used for early cancer diagnoses using liquid biopsies. Once we have access to the UK Biobank data we expect to have initial results in about a year, but additional models are being developed that will be verified using the UK Biobank will be performed in the following 2 years. The use of the UK Biobank Whole Genome data is to expand the mutation search into regions (non-coding)  that were not covered by the TCGA Whole Exome Data.