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. 2023 Oct 25;14(11):1991.
doi: 10.3390/genes14111991.

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

Zangbéwendé Guy Ouedraogo  1   2   3 , Florian Ceruti  4 , Mathis Lepage  1   5 , Mathilde Gay-Bellile  1   5 , Nancy Uhrhammer  1   5 , Flora Ponelle-Chachuat  1   5 , Yannick Bidet  1   5 , Maud Privat  1   5 , Mathias Cavaillé  1   5
Affiliations

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

Zangbéwendé Guy Ouedraogo et al. Genes (Basel). .

Abstract

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 CHEK2, MSH2, MUTYH and WRN. CHEK2 was associated with renal cancer (OR at 7.14; 95% CI 1.74-29.6; p < 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 CHEK2 pathogenic variant carriers is needed.

Keywords: CHEK2; cohort; detection rate; hereditary cancer; renal cancer.

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Conflict of interest statement

The authors declare no conflict of interest.

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