GENyO researchers identify a genetic variant linked to the progression of kidney cancer

Researchers from GENyO, the Pfizer-University of Granada-Regional Government of Andalusia Center for Genomics and Cancer Research, the University of Granada (UGR), and the ibs. GRANADA, along with the Urology and Pathology departments at the Virgen de las Nieves University Hospital in Granada, have published a study focused on identifying genetic markers with potential applications in the diagnosis and prognosis of renal cell carcinoma (RCC), one of the most common urological tumors and one of the most difficult to detect in its early stages.

The study analyzed genetic variants (SNPs) and the expression of the ITPR2, DPF3, EPAS1, and PVT1/MYC genes. In total, 5 SNPs were studied in 168 patients with RCC and 259 healthy individuals from the province of Granada. Among the results, the identification of the rs1049380 variant of the ITPR2 gene as a potential prognostic marker stands out: patients with the G allele at this position had poorer five-year survival, regardless of the presence of metastasis, and this association was maintained after rigorous statistical analysis. In addition, variants in the DPF3 and EPAS1 genes showed an association with an increased risk of developing the disease, consistent with previous studies, which reinforces their diagnostic value.

The study also included data on the expression of these genes in tumor tissue and adjacent healthy tissue. The results indicate that the MYC and PVT1 genes are more active in tumor tissue, while ITPR2 shows lower activity. Using machine learning tools, MYC was identified as the gene with the greatest ability to distinguish between tumor and non-tumor tissue.

The study, published in Frontiers in Medicine, is led by María Jesús Álvarez-Cubero and Luis Javier Martínez-González (Group on Omics Data Integration for the Search for Molecular Biomarkers Associated with Urological Cancers). The first authors are Carmen Morales Álvarez and Ana Jiménez-Domínguez, predoctoral researchers at the UGR. The authors note that, although the results are preliminary and require validation in larger studies, they reinforce the relevance of these genes in RCC and open the door to the development of new tools to improve its diagnosis and clinical follow-up.

Reference:

Morales-Álvarez CM, Jiménez-Domínguez AC, Rios-Pelegrina RM, Arance E, Marín-Benesiu F, Vázquez-Alonso F, Martínez-González LJ, Álvarez-Cubero MJ. Validation of ITPR2, DPF3, EPAS1, and PVT1-associated SNPs as biomarkers for RCC in an independent case-control cohort. Front Med (Lausanne). 2026 Mar 11;13:1734511. doi: 10.3389/fmed.2026.1734511. PMID: 41889506; PMCID: PMC13012921.

Contact: mjesusac@ugr.es y luisjavier.martinez@genyo.es