Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer

• Published in: Genes Vol. 14; no. 11; p. 1991
• Main Authors: Ouedraogo, Zangbéwendé Guy, Ceruti, Florian, Lepage, Mathis, Gay-Bellile, Mathilde, Uhrhammer, Nancy, Ponelle-Chachuat, Flora, Bidet, Yannick, Privat, Maud, Cavaillé, Mathias
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 25.10.2023; MDPI
• Subjects: Cancer; Cancer patients; Carcinoma, Renal Cell; Cohort analysis; Genes; Genetic aspects; Genetic Predisposition to Disease; Genetic screening; Genetic Testing; Genomes; Germ-Line Mutation; Health aspects; Humans; Kidney cancer; Kidney Neoplasms - genetics; Kidneys; Life Sciences; MSH2 protein; Mutation; Oncology, Experimental; Risk factors; Software; France; United States > US; detection rate; cohort; hereditary cancer; renal cancer; CHEK2
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes14111991

Hereditary predisposition to cancer affects about 3-5% of renal cancers. Testing criteria have been proposed in France for genetic testing of non-syndromic renal cancer. Our study explores the detection rates associated with our testing criteria. Using a comprehensive gene panel including 8 genes related to renal cancer and 50 genes related to hereditary predisposition to other cancers, we evaluated the detection rate of pathogenic variants in a cohort of 83 patients with suspected renal cancer predisposition. The detection rate was 7.2% for the renal cancer genes, which was 2.41-fold higher than the estimated 3% proportion of unselected kidney cases with inherited risk. Pathogenic variants in renal cancer genes were observed in 44.5% of syndromic cases, and in 2.7% of non-syndromic cases. Incidental findings were observed in , , and . was associated with renal cancer (OR at 7.14; 95% CI 1.74-29.6; < 0.003) in our study in comparison to the gnomAD control population. The detection rate in renal cancer genes was low in non-syndromic cases. Additional causal mechanisms are probably involved, and further research is required to find them. A study of the management of renal cancer risk for pathogenic variant carriers is needed.