{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:06:14Z","timestamp":1792692374984,"version":"4.5.0"},"reference-count":174,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,2,18]],"date-time":"2024-02-18T00:00:00Z","timestamp":1708214400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006769","name":"Russian Science Foundation","doi-asserted-by":"publisher","award":["22-45-08004"],"award-info":[{"award-number":["22-45-08004"]}],"id":[{"id":"10.13039\/501100006769","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medical Sciences"],"abstract":"<jats:p>Familial kidney tumors represent a rare variety of hereditary cancer syndromes, although systematic gene sequencing studies revealed that as many as 5% of renal cell carcinomas (RCCs) are associated with germline pathogenic variants (PVs). Most instances of RCC predisposition are attributed to the loss-of-function mutations in tumor suppressor genes, which drive the malignant progression via somatic inactivation of the remaining allele. These syndromes almost always have extrarenal manifestations, for example, von Hippel\u2013Lindau (VHL) disease, fumarate hydratase tumor predisposition syndrome (FHTPS), Birt\u2013Hogg\u2013Dub\u00e9 (BHD) syndrome, tuberous sclerosis (TS), etc. In contrast to the above conditions, hereditary papillary renal cell carcinoma syndrome (HPRCC) is caused by activating mutations in the MET oncogene and affects only the kidneys. Recent years have been characterized by remarkable progress in the development of targeted therapies for hereditary RCCs. The HIF2aplha inhibitor belzutifan demonstrated high clinical efficacy towards VHL-associated RCCs. mTOR downregulation provides significant benefits to patients with tuberous sclerosis. MET inhibitors hold promise for the treatment of HPRCC. Systematic gene sequencing studies have the potential to identify novel RCC-predisposing genes, especially when applied to yet unstudied populations.<\/jats:p>","DOI":"10.3390\/medsci12010012","type":"journal-article","created":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T03:18:38Z","timestamp":1708312718000},"page":"12","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Hereditary Renal Cancer Syndromes"],"prefix":"10.3390","volume":"12","author":[{"given":"Grigory A.","family":"Yanus","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Saint-Petersburg State Pediatric Medical University, 194100 Saint-Petersburg, Russia"},{"name":"Department of Tumor Growth Biology, N.N. Petrov National Medical Research Center of Oncology, 197758 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2396-6540","authenticated-orcid":false,"given":"Ekaterina Sh.","family":"Kuligina","sequence":"additional","affiliation":[{"name":"Department of Tumor Growth Biology, N.N. Petrov National Medical Research Center of Oncology, 197758 Saint-Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4529-7891","authenticated-orcid":false,"given":"Evgeny N.","family":"Imyanitov","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Saint-Petersburg State Pediatric Medical University, 194100 Saint-Petersburg, Russia"},{"name":"Department of Tumor Growth Biology, N.N. Petrov National Medical Research Center of Oncology, 197758 Saint-Petersburg, Russia"},{"name":"Laboratory of Molecular Biology, Kurchatov Complex for Medical Primatology, National Research Centre \u201cKurchatov Institute\u201d, 354376 Sochi, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1002\/gcc.23048","article-title":"Principles of molecular testing for hereditary cancer","volume":"61","author":"Mighton","year":"2022","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"40","DOI":"10.5306\/wjco.v14.i2.40","article-title":"Hereditary cancer syndromes","volume":"14","author":"Imyanitov","year":"2023","journal-title":"World J. Clin. 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