Population Genetics

Genome-Wide Association Studies

To identify potential inherited genetic factors that could cause cancer, we have performed Genome-wide Association Studies (GWAS) on a number of cancer types, including colorectal cancer, multiple myeloma, acute lymphoblastic leukaemia, chronic lymphocytic leukaemia, Hodgkin lymphoma, Wilm's tumour, glioma, and meningioma.

This analysis involves genotyping people with cancer (cases) and people without cancer (controls), and using statistics, we are able to find those parts of the genome that are different between the groups. Downstream analyses includes integration with other experimental data (e.g. ENCODE and GTEx) and pathway analysis to determine what the functional basis is for the implicated variants. We also perform further follow-up biological experiments to try understand what these variants are doing. See the Functional Annotation page for more details.

Genomics England

We are involved in a number of projects studying cancer genomes from the Genomics England 100,000 Genomes Project; the largest cancer whole-genome-sequencing cohort in the world generated to-date. We have a leading role in the analysis of the colorectal, renal cell carcinoma and adult glioma tumours, as well as pan-cancer comparisons across all tumour types. The aim of these projects is to characterise the key mutations that occur in these tumours and better understand how they drive cancer development and evolution.

For more information about the types of analysis we do, see the Somatic Genetics page

Further Reading

A Sud, B Kinnersley, RS Houlston; 2017; Genome-wide association studies of cancer: current insights and future perspectives; Nature Reviews Cancer; 17 (11), 692-704 PMID: 29026206

PJ Law, M Timofeeva, C Fernandez-Rozadilla, P Broderick, J Studd, ...; 2019; Association analyses identify 31 new risk loci for colorectal cancer susceptibility; Nature Communications; 10 (1), 1-15 PMID: 31089142

AJ Cornish, PJ Law, M Timofeeva, K Palin, SM Farrington, C Palles, ... ; 2020; Modifiable pathways for colorectal cancer: a mendelian randomisation analysis; The Lancet Gastroenterology & Hepatology; 5 (1), 55-62 PMID: 31668584