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.
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.
Related variants MyGeneLog™ checks for
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Renal Cell Carcinoma comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 6 of 24 linked studies with a resolved discovery ancestry.
Nature communications · 2017 · PMID 28598434 · open access
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Questions about Renal Cell Carcinoma
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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