Principal Investigator: Professor Gareth Bond
Institution: University of OxfordTags: 24456, cancer, disease, genetics, GWAS
1a: There is a high degree of heterogeneity among individuals with regards to their risk of developing cancer or progressing to high-grade tumours or their therapeutic responses. This poses a major challenge to the design and implementation of effective prevention, screening or treatment strategies. This has led to numerous endeavours to try to use biomarkers, especially genetic variant based biomarkers, to personalize such strategies. In our recent analysis, we demonstrated that there are strong similarities between commonly inherited genetic variants and the already well-known somatic variants in the p53 pathway.
Here, we initially aim to use the genome wide data from the UK Biobank to determine if such enrichments occur in the p53 pathway (and/or other pathways) across a pan-cancer panel, following which we will look into associations within specific cancer subsets.
1b: This research fits well with the UK Biobank’s mission of impact on public health. Any potentially significant genes identified in important pathways, that might carry cancer associated SNP(s) may serve as potential biomarkers for developing personalised treatment strategies and provide an insight into the mechanisms of tumour suppression and cancer surveillance.
1c: There are about 77,800 individuals with cancer presently reported and linked by the cancer registry. We will use the existing cancer information and carry out a pan-cancer analysis to look for associations where genetic variants appear to enrich certain pathways (e.g. p53). These would then be investigated at the level of individual cancers to determine the relationship between specific cancer types and genetic variation.
Future updates from the cancer registry for the cohort would then be included and re-analysed.
1d: Full cohort