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Cancer
Renal Cell Carcinoma
Reviewed September 11, 2026
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The most common kind of kidney cancer in adults. Six risk loci were already known before this study; a large European-ancestry meta-analysis found seven more, five of which are the variants on this page.
What this condition connects to
Prevalence
The most common kind of kidney cancer in adults. Scelo et al. 2017 combined two new genome-wide scans (5,198 cases, 7,331 controls) with four existing scans, reaching 10,784 cases and 20,406 controls of European ancestry, then tested top signals in a further 3,182 cases and 6,301 controls. The study confirmed six previously known RCC risk loci and found seven new ones; five are the variants on this page (PMID:28598434).
Inheritance
Five common variants, each genome-wide significant in a large European-ancestry meta-analysis, among seven new loci the study identified beyond six already known.
Renal cell carcinoma (RCC) is the most common type of kidney cancer in adults. Before the study behind this page, six genome-wide risk loci had already been identified for it.
A large meta-analysis, and seven new loci
Scelo et al. 2017 combined two new genome-wide scans (5,198 cases, 7,331 controls) with four existing scans, reaching 10,784 cases and 20,406 controls, all of European ancestry. A further 3,182 cases and 6,301 controls were used to test the top signals. The study confirmed all six previously known RCC risk loci and identified seven new ones.
Five of those seven new loci are the variants on this page: FAF1 (1p32.3, rs4381241, P = 3.1×10⁻¹⁰), ZNF620 (3p22.1, rs67311347, P = 2.5×10⁻⁸), OBFC1 (10q24.33-q25.1, rs11813268, P = 3.9×10⁻⁸), KDELC2 (11q22.3, rs74911261, P = 2.1×10⁻¹⁰) and DPF3 (14q24.2, rs4903064, P = 2.2×10⁻²⁴ — the strongest of the five). The paper used expression quantitative trait analyses — checking whether a variant is statistically linked to how much of a nearby gene gets expressed — to suggest plausible candidate genes at each region; that is a step toward a mechanism, not a proven one, and this page keeps that distinction.
A larger study since: 29,020 people with kidney cancer
A 2024 study in Nature Genetics (Purdue et al.) brought together 29,020 people with kidney cancer and 835,670 without, from several ancestries. It found 63 regions of the genome that raise the risk, 50 of them new, holding 108 separate signals. One variant in the VHL gene, common in people of African ancestry, nearly tripled the risk of clear cell RCC, the most common kind. Many of the signals sat where a protein that responds to low oxygen attaches to DNA, which points to the cell's response to low oxygen as part of how kidney cancer starts.
This site has 11 positions from this study, among them rs10235657 in POT1, a gene that protects the ends of chromosomes, and rs10846758 in SCARB1. A genetic score built from the study told people with and without kidney cancer apart only modestly, so it is a research result, not a test.
Clinical detail
What is actually diagnosed and treated here
Renal cell carcinoma is diagnosed by imaging and tissue biopsy, not by genotype. Treatment depends on stage — surgery, targeted therapy, or immunotherapy — decided by an oncologist. Nothing on this page changes that.
All five variants here come from the same study, of participants entirely of European ancestry — a scope worth stating rather than assuming these findings generalise to every population. The "candidate genes" the paper's expression analysis points to are plausible starting points for further research, not established drivers of the disease.
Which ancestries this evidence comes from
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 8 of 140 linked studies with a resolved discovery ancestry.
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Quoting this page
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
Can these variants diagnose renal cell carcinoma or predict who will get it?
No. RCC is diagnosed by imaging and tissue biopsy. These variants come from a genome-wide association study and are not used diagnostically.
How many risk loci does this add to what was already known?
Seven new loci, on top of six that were already established. This page covers five of the seven new ones.
Do these variants apply to people who are not of European ancestry?
Not established by this study. The discovery meta-analysis and its replication were conducted entirely in participants of European ancestry, so whether these specific loci hold in other populations is an open question.
Does the paper explain how these genes cause kidney cancer?
Not fully. It used expression quantitative trait analysis to suggest plausible candidate genes at each risk region — a step toward a mechanism, showing the variant is linked to gene expression nearby — but does not establish which gene, if any, actually drives the disease.
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