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In a new analysis of genetic susceptibility to kidney cancer, an international team of researchers, including Professor Mark Sullivan from Oxford University's Nuffield Department of Surgical Sciences, has identified 50 new areas across the genome that are associated with the risk of developing kidney cancer.

Anatomy illustration of the human body showing position of the kidneys

These insights could one day be used to advance our understanding of the molecular basis of kidney cancer, inform screening efforts for those at highest risk, and identify new drug targets. The study was led by scientists at the National Cancer Institute (NCI), part of the National Institutes of Health (NIH).

A previous genome-wide association study (GWAS) of people of European ancestry identified 13 regions of the genome that are associated with kidney cancer risk. However, the study population was not diverse. To identify additional regions, researchers conducted a GWAS in participants of many different genetic ancestries that included 29,020 people with kidney cancer and 835,670 people without kidney cancer. Analysis of the data, which came from published studies, biobanks, and a new study, resulted in the identification of 50 new regions associated with the risk of developing kidney cancer, bringing the total number of such regions to 63.

Among the newly identified genetic variants were several associated with a risk of developing papillary renal cell carcinoma, the second most common subtype of renal cell carcinoma. Another variant, in the VHL gene, was common in individuals of African ancestry and was associated with an estimated three times higher risk of developing clear cell renal cell carcinoma, the most common type of kidney cancer.

Finally, the researchers used the study data to develop a measure of an individual’s overall risk of developing kidney cancer, known as a polygenic risk score, that can be combined with established risk factors—such as high blood pressure, smoking, and a high body-mass index measurement—to possibly enable earlier detection of the disease.

Professor Sullivan said: ‘It was a pleasure to be part of this worldwide collaborative study. These are important new genome findings in renal cancer that have delivered a new validated polygenic risk score to sit alongside hypertension, smoking and high BMI potentially building profiles that will allow for earlier detection. Going forward we need to find out if any of these associations are causal and allow functional investigation that will inform drug development programmes and hopefully yield new more effective treatments.’

Read the study, 'Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions' in Nature Genetics (26 April 2024).

Press release courtesy of the National Cancer Institute.