by An international team of researchers, led by scientists at the National Cancer Institute (NCI), part of the National Institutes of Health (NIH), has discovered 50 new genomic regions associated with an increased risk of developing kidney cancer. This groundbreaking analysis, published in the journal Nature Genetics, could pave the way for advancements in our comprehension of kidney cancer’s molecular basis, targeted screening for high-risk individuals, and the identification of novel drug targets.
In a previous genome-wide association study (GWAS) of individuals of European ancestry, 13 genomic regions were identified as being linked to kidney cancer risk. However, the study population was not diverse, leaving many potential associations unexplored.
To expand on these findings, researchers conducted a comprehensive GWAS using data from various published studies, biobanks, and a new study. This analysis included 29,020 individuals diagnosed with kidney cancer and 835,670 individuals without kidney cancer from diverse genetic backgrounds. The team identified 50 new genomic regions associated with kidney cancer risk, bringing the total number of such regions to 63.
Among the newly discovered genetic variants, several were linked to an increased risk of developing papillary renal cell carcinoma, the second most common subtype of renal cell carcinoma. Additionally, a variant in the VHL gene was identified as being more common in individuals of African ancestry and was associated with an estimated threefold higher risk of developing clear cell renal cell carcinoma, the most common type of kidney cancer.
Using the study data, researchers also developed a polygenic risk score, which can be combined with established risk factors, such as high blood pressure, smoking, and a high body-mass index measurement, to potentially enable earlier detection of kidney cancer. This score could be a valuable tool in identifying individuals at higher risk and facilitating earlier intervention.
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1. Source: Coherent Market Insights, Public sources, Desk research
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