{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T09:34:03Z","timestamp":1774085643253,"version":"3.50.1"},"reference-count":43,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T00:00:00Z","timestamp":1698192000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Centre Jean Perrin, Clermont-Ferrand, France"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Hereditary predisposition to cancer affects about 3\u20135% 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\u201329.6; p &lt; 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.<\/jats:p>","DOI":"10.3390\/genes14111991","type":"journal-article","created":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T06:19:58Z","timestamp":1698214798000},"page":"1991","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Detection Rate and Spectrum of Pathogenic Variations in a Cohort of 83 Patients with Suspected Hereditary Risk of Kidney Cancer"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1142-8788","authenticated-orcid":false,"given":"Zangb\u00e9wend\u00e9 Guy","family":"Ouedraogo","sequence":"first","affiliation":[{"name":"D\u00e9partement d\u2019Oncog\u00e9n\u00e9tique, Centre Jean Perrin, 63011 Clermont-Ferrand, France"},{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France"},{"name":"Universit\u00e9 Clermont Auvergne, CNRS, Inserm, iGReD, 63001 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florian","family":"Ceruti","sequence":"additional","affiliation":[{"name":"Service d\u2019Urologie, CHU Gabriel Montpied, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0315-3938","authenticated-orcid":false,"given":"Mathis","family":"Lepage","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Oncog\u00e9n\u00e9tique, Centre Jean Perrin, 63011 Clermont-Ferrand, France"},{"name":"Universit\u00e9 Clermont Auvergne, INSERM, U1240 Imagerie Mol\u00e9culaire et Strat\u00e9gies Th\u00e9ranostiques, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathilde","family":"Gay-Bellile","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Oncog\u00e9n\u00e9tique, Centre Jean Perrin, 63011 Clermont-Ferrand, France"},{"name":"Universit\u00e9 Clermont Auvergne, INSERM, U1240 Imagerie Mol\u00e9culaire et Strat\u00e9gies Th\u00e9ranostiques, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7816-2398","authenticated-orcid":false,"given":"Nancy","family":"Uhrhammer","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Oncog\u00e9n\u00e9tique, Centre Jean Perrin, 63011 Clermont-Ferrand, France"},{"name":"Universit\u00e9 Clermont Auvergne, INSERM, U1240 Imagerie Mol\u00e9culaire et Strat\u00e9gies Th\u00e9ranostiques, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3637-5504","authenticated-orcid":false,"given":"Flora","family":"Ponelle-Chachuat","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Oncog\u00e9n\u00e9tique, Centre Jean Perrin, 63011 Clermont-Ferrand, France"},{"name":"Universit\u00e9 Clermont Auvergne, INSERM, U1240 Imagerie Mol\u00e9culaire et Strat\u00e9gies Th\u00e9ranostiques, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9624-8195","authenticated-orcid":false,"given":"Yannick","family":"Bidet","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Oncog\u00e9n\u00e9tique, Centre Jean Perrin, 63011 Clermont-Ferrand, France"},{"name":"Universit\u00e9 Clermont Auvergne, INSERM, U1240 Imagerie Mol\u00e9culaire et Strat\u00e9gies Th\u00e9ranostiques, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maud","family":"Privat","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Oncog\u00e9n\u00e9tique, Centre Jean Perrin, 63011 Clermont-Ferrand, France"},{"name":"Universit\u00e9 Clermont Auvergne, INSERM, U1240 Imagerie Mol\u00e9culaire et Strat\u00e9gies Th\u00e9ranostiques, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4079-4891","authenticated-orcid":false,"given":"Mathias","family":"Cavaill\u00e9","sequence":"additional","affiliation":[{"name":"D\u00e9partement d\u2019Oncog\u00e9n\u00e9tique, Centre Jean Perrin, 63011 Clermont-Ferrand, France"},{"name":"Universit\u00e9 Clermont Auvergne, INSERM, U1240 Imagerie Mol\u00e9culaire et Strat\u00e9gies Th\u00e9ranostiques, 63000 Clermont-Ferrand, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1038\/nrc1408","article-title":"Overweight, Obesity and Cancer: Epidemiological Evidence and Proposed Mechanisms","volume":"4","author":"Calle","year":"2004","journal-title":"Nat. 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