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Approved Research

Genome-wide association study of renal cell carcinoma

Principal Investigator: Dr Mark Purdue
Approved Research ID: 86140
Approval date: August 15th 2022

Lay summary

Renal cell carcinoma (RCC) is the most common cancer of the kidney, and is one of the most common causes of death among genitourinary cancers, with on average nearly 1 in 4 patients dying within five years of diagnosis. It is well known that genetics affect our risk of developing RCC; elevated rates of disease are observed among people with a family history of kidney cancer and, in particular, with rare familial cancer syndromes involving very uncommon inherited gene mutations. Common inherited genetic variants associated with modestly elevated RCC risks are also being increasingly identified from large genetic studies known as genome-wide association studies (GWAS). In order to identify more of these common low-risk genetic variants, we are organizing a new project that will combine data across many past and ongoing RCC GWAS studies. As part of this project we are requesting UK Biobank data to conduct a GWAS of RCC among its subjects and combine the results with those of other GWAS studies. We expect that this project will take up to 3 years, with the first scientific papers likely to be published in 2023. The identification of additional RCC genetic risk variants is valuable as it provides us with an understanding of what genes are involved in the development of RCC; this knowledge can be used to develop new drugs to treat the disease.