Related Experiment Video
Updated: May 9, 2026

CRISPR Gene Editing Tool for MicroRNA Cluster Network Analysis
Published on: April 25, 2022
Germline genetic variations at 11q13 and 12p11 locus modulate age at onset for renal cell carcinoma
François Audenet1, Géraldine Cancel-Tassin1, Pierre Bigot1
1Centre de Recherche pour les Pathologies Prostatiques (FA, GC-T, PB, MA, CG, VO, FT, ARA, MR, OC), Paris, France; Academic Department of Urology, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (MR), Université Pierre et Marie Curie (Université Paris 06), Paris, France; ONCOTYPE-Uro (FA, GC-T, MA, CG, VO, MR, OC), Université Pierre et Marie Curie (Université Paris 06), Paris, France; ER 2 (FA, GC-T, MA, FT, KA, OC), Université Pierre et Marie Curie (Université Paris 06), Paris, France; Academic Department of Urology, Georges Pompidou European Hospital, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris Descartes, University Paris V (FA, AM), Paris, France; Academic Department of Urology, Assistance Publique-Hôpitaux de Paris, Hôpital Tenon, Groupement Hospitalier Universitaire Est (CG, VO, OC), Paris, France; Centre Hospitalier Universitaire d'Angers, Academic Department of Urology (PB, ARA), Angers, France; Sensors Signal and Information Processing Department, Information Models and Learning Laboratory, CEA LIST Institute, Saclay, France.
Purpose:
Few risk factors have been identified for renal cell carcinoma. We performed a validation study in a population with a European background to identify the most significant variants previously identified in association with renal cell carcinoma risk.
Materials And Methods:
We performed a case-control validation study after recruiting 463 controls and 463 patients with a histologically confirmed diagnosis of clear cell renal cell carcinoma. For each patient and matched control we genotyped 8 single nucleotide polymorphisms selected from previous studies to evaluate the association between candidate single nucleotide polymorphisms and renal cell carcinoma susceptibility.
Results:
After adjusting for patient age, gender, smoking status and body mass index the AG + AA genotypes from rs7105934 (11q13) were associated with a decreased risk of renal cell carcinoma (OR 0.50, 95% CI 0.33-0.75, p = 0.001) and the AC + CC genotypes from rs1049380 (ITPR2) were associated with an increased risk (OR 1.66, 95% CI 1.28-2.16, p <0.001). Kidney cancer developed at an older age in patients carrying the dominant risk allele A for rs7105934 (mean age at diagnosis 73.1 vs 68.9 years, p = 0.002) and at a younger age in those carrying the dominant allele C for rs1049380 (mean 68.1 vs 70.8 years, p = 0.005).
Conclusions:
In what is to our knowledge the first validation study of the main 8 single nucleotide polymorphism variants associated with renal cell carcinoma susceptibility we confirmed the association of 2 single nucleotide polymorphisms with the risk of renal cell carcinoma. Each variant influenced patient age at disease diagnosis.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Cancers Originate from Somatic Mutations in a Single Cell
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer Prevention
Some...
Abnormal Proliferation
