{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T02:38:48Z","timestamp":1789958328567,"version":"4.0.1"},"reference-count":102,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100017658","name":"Calithera Biosciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017658","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","theclinics.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Urologic Clinics of North America"],"published-print":{"date-parts":[[2023,5]]},"DOI":"10.1016\/j.ucl.2023.01.010","type":"journal-article","created":{"date-parts":[[2023,3,20]],"date-time":"2023-03-20T18:37:00Z","timestamp":1679337420000},"page":"205-215","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Diseases of Hereditary Renal Cell Cancers"],"prefix":"10.1016","volume":"50","author":[{"given":"Othon","family":"Iliopoulos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ucl.2023.01.010_bib1","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/nrc3844","article-title":"VHL, the story of a tumour suppressor gene","volume":"15","author":"Gossage","year":"2015","journal-title":"Nat Rev Cancer"},{"key":"10.1016\/j.ucl.2023.01.010_bib2","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/0002-9343(64)90107-X","article-title":"Lindau's Disease. Review of the Literature and Study of a Large Kindred","volume":"36","author":"Melmon","year":"1964","journal-title":"Am J Med"},{"issue":"5112","key":"10.1016\/j.ucl.2023.01.010_bib3","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1126\/science.8493574","article-title":"Identification of the von Hippel-Lindau disease tumor suppressor gene","volume":"260","author":"Latif","year":"1993","journal-title":"Science"},{"issue":"9","key":"10.1016\/j.ucl.2023.01.010_bib4","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1038\/ejhg.2013.279","article-title":"VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype","volume":"22","author":"Coppin","year":"2014","journal-title":"Eur J Hum Genet"},{"issue":"16","key":"10.1016\/j.ucl.2023.01.010_bib5","doi-asserted-by":"crossref","first-page":"2728","DOI":"10.1093\/hmg\/ddac066","article-title":"Elongin C (ELOC\/TCEB1)-associated von Hippel-Lindau disease","volume":"31","author":"Andreou","year":"2022","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ucl.2023.01.010_bib6","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1159\/000061052","article-title":"von Hippel-Lindau disease: genetic and clinical observations","volume":"28","author":"Iliopoulos","year":"2001","journal-title":"Front Horm Res"},{"issue":"9374","key":"10.1016\/j.ucl.2023.01.010_bib7","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1016\/S0140-6736(03)13643-4","article-title":"von Hippel-Lindau disease","volume":"361","author":"Lonser","year":"2003","journal-title":"Lancet"},{"issue":"1","key":"10.1016\/j.ucl.2023.01.010_bib8","first-page":"82","article-title":"The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease","volume":"98","author":"Wanebo","year":"2003","journal-title":"J\u00a0Neurosurg"},{"issue":"2","key":"10.1016\/j.ucl.2023.01.010_bib9","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1001\/archopht.125.2.239","article-title":"Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis","volume":"125","author":"Wong","year":"2007","journal-title":"Arch Ophthalmol"},{"issue":"3","key":"10.1016\/j.ucl.2023.01.010_bib10","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1097\/ICU.0b013e3282fb7c04","article-title":"Ocular von Hippel-Lindau disease: clinical update and emerging treatments","volume":"19","author":"Wong","year":"2008","journal-title":"Curr Opin Ophthalmol"},{"issue":"3","key":"10.1016\/j.ucl.2023.01.010_bib11","first-page":"504","article-title":"Loss of heterozygosity and somatic mutations of the VHL tumor suppressor gene in sporadic cerebellar hemangioblastomas","volume":"58","author":"Lee","year":"1998","journal-title":"Cancer Res"},{"key":"10.1016\/j.ucl.2023.01.010_bib12","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1186\/s40478-014-0167-x","article-title":"Sporadic hemangioblastomas are characterized by cryptic VHL inactivation","volume":"2","author":"Shankar","year":"2014","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/j.ucl.2023.01.010_bib13","first-page":"2089","article-title":"Allelic deletions of the VHL gene detected in multiple microscopic clear cell renal lesions in von Hippel-Lindau disease patients","volume":"149","author":"Lubensky","year":"1996","journal-title":"Am J Pathol"},{"issue":"1","key":"10.1016\/j.ucl.2023.01.010_bib14","first-page":"22","article-title":"Characterization of the renal pathology of a familial form of renal cell carcinoma associated with von Hippel-Lindau disease: clinical and molecular genetic implications","volume":"153","author":"Poston","year":"1995","journal-title":"J\u00a0Urol"},{"key":"10.1016\/j.ucl.2023.01.010_bib15","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1148\/radiology.194.3.7862955","article-title":"von Hippel-Lindau disease: genetic, clinical and imaging features","volume":"194","author":"Choyke","year":"1995","journal-title":"Radiology"},{"issue":"18","key":"10.1016\/j.ucl.2023.01.010_bib16","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1001\/jama.1997.03540420057030","article-title":"Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease","volume":"277","author":"Manski","year":"1997","journal-title":"JAMA"},{"issue":"3","key":"10.1016\/j.ucl.2023.01.010_bib17","first-page":"503","article-title":"Tumors of the endolymphatic sac in patients with von Hippel-Lindau disease: implications for their natural history, diagnosis, and treatment","volume":"102","author":"Kim","year":"2005","journal-title":"J\u00a0Neurosurg"},{"issue":"6","key":"10.1016\/j.ucl.2023.01.010_bib18","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1016\/S0090-4295(97)00074-5","article-title":"Epididymal cystadenomas in von Hippel-Lindau disease","volume":"49","author":"Choyke","year":"1997","journal-title":"Urology"},{"issue":"8","key":"10.1016\/j.ucl.2023.01.010_bib19","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1093\/hmg\/3.8.1303","article-title":"Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype","volume":"3","author":"Crossey","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ucl.2023.01.010_bib20","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1002\/humu.1380050109","article-title":"Germline mutations in the von hippel-lindau disease tumor suppressor gene:correlations with phenotype","volume":"5","author":"Chen","year":"1995","journal-title":"Hum Mutat"},{"issue":"4","key":"10.1016\/j.ucl.2023.01.010_bib21","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1038\/ng1019","article-title":"Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia","volume":"32","author":"Ang","year":"2002","journal-title":"Nat Genet"},{"issue":"2","key":"10.1016\/j.ucl.2023.01.010_bib22","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1086\/377108","article-title":"Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia","volume":"73","author":"Pastore","year":"2003","journal-title":"Am J Hum Genet"},{"issue":"8","key":"10.1016\/j.ucl.2023.01.010_bib23","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1038\/nm0895-822","article-title":"Tumour suppression by the human von Hippel-Lindau gene product","volume":"1","author":"Iliopoulos","year":"1995","journal-title":"Nat Med"},{"issue":"20","key":"10.1016\/j.ucl.2023.01.010_bib24","doi-asserted-by":"crossref","first-page":"10595","DOI":"10.1073\/pnas.93.20.10595","article-title":"Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein","volume":"93","author":"Iliopoulos","year":"1996","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"6733","key":"10.1016\/j.ucl.2023.01.010_bib25","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/20459","article-title":"The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis","volume":"399","author":"Maxwell","year":"1999","journal-title":"Nature"},{"issue":"5229","key":"10.1016\/j.ucl.2023.01.010_bib26","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1126\/science.7660130","article-title":"Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C","volume":"269","author":"Kibel","year":"1995","journal-title":"Science"},{"issue":"5516","key":"10.1016\/j.ucl.2023.01.010_bib27","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1126\/science.1059796","article-title":"Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation","volume":"292","author":"Jaakkola","year":"2001","journal-title":"Science"},{"issue":"5516","key":"10.1016\/j.ucl.2023.01.010_bib28","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1126\/science.1059817","article-title":"HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing","volume":"292","author":"Ivan","year":"2001","journal-title":"Science"},{"issue":"3","key":"10.1016\/j.ucl.2023.01.010_bib29","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1158\/2159-8290.CD-11-0098","article-title":"Genetic and functional studies implicate HIF1alpha as a 14q kidney cancer suppressor gene","volume":"1","author":"Shen","year":"2011","journal-title":"Cancer Discov"},{"issue":"1","key":"10.1016\/j.ucl.2023.01.010_bib30","doi-asserted-by":"crossref","first-page":"4111","DOI":"10.1038\/s41467-020-17873-3","article-title":"HIF-1alpha and HIF-2alpha differently regulate tumour development and inflammation of clear cell renal cell carcinoma in mice","volume":"11","author":"Hoefflin","year":"2020","journal-title":"Nat Commun"},{"issue":"2","key":"10.1016\/j.ucl.2023.01.010_bib31","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1158\/1541-7786.89.2.2","article-title":"Inhibition of hypoxia-inducible factor is sufficient for growth suppression of VHL-\/- tumors","volume":"2","author":"Zimmer","year":"2004","journal-title":"Mol Cancer Res"},{"issue":"3","key":"10.1016\/j.ucl.2023.01.010_bib32","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/S1535-6108(02)00043-0","article-title":"Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein","volume":"1","author":"Kondo","year":"2002","journal-title":"Cancer Cell"},{"issue":"5","key":"10.1016\/j.ucl.2023.01.010_bib33","doi-asserted-by":"crossref","first-page":"2576","DOI":"10.1158\/0008-5472.CAN-05-3241","article-title":"Renal cyst development in mice with conditional inactivation of the von Hippel-Lindau tumor suppressor","volume":"66","author":"Rankin","year":"2006","journal-title":"Cancer Res"},{"issue":"7381","key":"10.1016\/j.ucl.2023.01.010_bib34","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/nature10602","article-title":"Reductive glutamine metabolism by IDH1 mediates lipogenesis under hypoxia","volume":"481","author":"Metallo","year":"2012","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.ucl.2023.01.010_bib35","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.cmet.2013.02.002","article-title":"In\u00a0vivo HIF-mediated reductive carboxylation is regulated by citrate levels and sensitizes VHL-deficient cells to glutamine deprivation","volume":"17","author":"Gameiro","year":"2013","journal-title":"Cell Metab"},{"issue":"5","key":"10.1016\/j.ucl.2023.01.010_bib36","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1172\/JCI87800","article-title":"Glutaminase and poly(ADP-ribose) polymerase inhibitors suppress pyrimidine synthesis and VHL-deficient renal cancers","volume":"127","author":"Okazaki","year":"2017","journal-title":"J\u00a0Clin Invest"},{"issue":"5","key":"10.1016\/j.ucl.2023.01.010_bib37","first-page":"1475","article-title":"Renal cancer in families with hereditary renal cancer: prospective analysis of a tumor size threshold for renal parenchymal sparing surgery","volume":"161","author":"Walther","year":"1999","journal-title":"J\u00a0Urol"},{"issue":"1","key":"10.1016\/j.ucl.2023.01.010_bib38","first-page":"63","article-title":"The relationship between renal tumor size and metastases in patients with von Hippel-Lindau disease","volume":"172","author":"Duffey","year":"2004","journal-title":"J\u00a0Urol"},{"issue":"7","key":"10.1016\/j.ucl.2023.01.010_bib39","doi-asserted-by":"crossref","first-page":"2409","DOI":"10.1007\/s00345-020-03441-3","article-title":"Evaluation, diagnosis and surveillance of renal masses in the setting of VHL disease","volume":"39","author":"Chahoud","year":"2021","journal-title":"World J Urol"},{"issue":"9","key":"10.1016\/j.ucl.2023.01.010_bib40","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/nrclinonc.2016.37","article-title":"Evaluation and management of pancreatic lesions in patients with von Hippel-Lindau disease","volume":"13","author":"Keutgen","year":"2016","journal-title":"Nat Rev Clin Oncol"},{"issue":"1","key":"10.1016\/j.ucl.2023.01.010_bib41","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1001\/jamaoncol.2017.3428","article-title":"Association of VHL Genotype With Pancreatic Neuroendocrine Tumor Phenotype in Patients With von Hippel-Lindau Disease","volume":"4","author":"Tirosh","year":"2018","journal-title":"JAMA Oncol"},{"issue":"22","key":"10.1016\/j.ucl.2023.01.010_bib42","doi-asserted-by":"crossref","first-page":"2036","DOI":"10.1056\/NEJMoa2103425","article-title":"Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease","volume":"385","author":"Jonasch","year":"2021","journal-title":"N\u00a0Engl J Med"},{"issue":"8","key":"10.1016\/j.ucl.2023.01.010_bib43","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1038\/gim.2014.162","article-title":"Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations","volume":"17","author":"Evenepoel","year":"2015","journal-title":"Genet Med"},{"issue":"6","key":"10.1016\/j.ucl.2023.01.010_bib44","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1136\/jmedgenet-2017-105127","article-title":"Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD","volume":"55","author":"Andrews","year":"2018","journal-title":"J\u00a0Med Genet"},{"issue":"17","key":"10.1016\/j.ucl.2023.01.010_bib45","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1093\/jnci\/djn254","article-title":"Germline SDHB mutations and familial renal cell carcinoma","volume":"100","author":"Ricketts","year":"2008","journal-title":"J\u00a0Natl Cancer Inst"},{"issue":"12","key":"10.1016\/j.ucl.2023.01.010_bib46","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1097\/PAS.0000000000000292","article-title":"Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients","volume":"38","author":"Gill","year":"2014","journal-title":"Am J Surg Pathol"},{"issue":"6","key":"10.1016\/j.ucl.2023.01.010_bib47","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1038\/s41379-021-00998-1","article-title":"Expanding the clinicopathological spectrum of succinate dehydrogenase-deficient renal cell carcinoma with a focus on variant morphologies: a study of 62 new tumors in 59 patients","volume":"35","author":"Fuchs","year":"2022","journal-title":"Mod Pathol"},{"issue":"5","key":"10.1016\/j.ucl.2023.01.010_bib48","doi-asserted-by":"crossref","first-page":"643","DOI":"10.5858\/arpa.2018-0024-RS","article-title":"Succinate Dehydrogenase-Deficient Renal Cell Carcinoma","volume":"143","author":"Tsai","year":"2019","journal-title":"Arch Pathol Lab Med"},{"issue":"1","key":"10.1016\/j.ucl.2023.01.010_bib49","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/modpathol.2014.86","article-title":"Succinate dehydrogenase-deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma","volume":"28","author":"Williamson","year":"2015","journal-title":"Mod Pathol"},{"issue":"7","key":"10.1016\/j.ucl.2023.01.010_bib50","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/s41574-021-00492-3","article-title":"International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers","volume":"17","author":"Amar","year":"2021","journal-title":"Nat Rev Endocrinol"},{"issue":"6","key":"10.1016\/j.ucl.2023.01.010_bib51","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1016\/j.ccr.2013.04.018","article-title":"SDH mutations establish a hypermethylator phenotype in paraganglioma","volume":"23","author":"Letouze","year":"2013","journal-title":"Cancer Cell"},{"issue":"2","key":"10.1016\/j.ucl.2023.01.010_bib52","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.molcel.2019.10.023","article-title":"Cancer-Derived Succinate Promotes Macrophage Polarization and Cancer Metastasis via Succinate Receptor","volume":"77","author":"Wu","year":"2020","journal-title":"Mol Cell"},{"issue":"7375","key":"10.1016\/j.ucl.2023.01.010_bib53","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/nature10539","article-title":"A\u00a0SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma","volume":"480","author":"Bertolotto","year":"2011","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.ucl.2023.01.010_bib54","doi-asserted-by":"crossref","first-page":"17051","DOI":"10.1038\/s41598-020-74237-z","article-title":"Cancer risks associated with the germline MITF(E318K) variant","volume":"10","author":"Guhan","year":"2020","journal-title":"Sci Rep"},{"issue":"6","key":"10.1016\/j.ucl.2023.01.010_bib55","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1016\/j.ajhg.2013.04.012","article-title":"Germline BAP1 mutations predispose to renal cell carcinomas","volume":"92","author":"Popova","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"10","key":"10.1016\/j.ucl.2023.01.010_bib56","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1038\/ng.912","article-title":"Germline BAP1 mutations predispose to malignant mesothelioma","volume":"43","author":"Testa","year":"2011","journal-title":"Nat Genet"},{"issue":"6","key":"10.1016\/j.ucl.2023.01.010_bib57","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1309\/AJCPG8LFJC0DHDQT","article-title":"Loss of BAP1 Expression in Basal Cell Carcinomas in Patients With Germline BAP1 Mutations","volume":"143","author":"Mochel","year":"2015","journal-title":"Am J Clin Pathol"},{"issue":"3","key":"10.1016\/j.ucl.2023.01.010_bib58","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1111\/cge.12472","article-title":"Germline BAP1 mutations predispose also to multiple basal cell carcinomas","volume":"88","author":"de la Fouchardiere","year":"2015","journal-title":"Clin Genet"},{"issue":"8","key":"10.1016\/j.ucl.2023.01.010_bib59","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1158\/2159-8290.CD-19-1220","article-title":"Biological Mechanisms and Clinical Significance of BAP1 Mutations in Human Cancer","volume":"10","author":"Carbone","year":"2020","journal-title":"Cancer Discov"},{"issue":"11","key":"10.1016\/j.ucl.2023.01.010_bib60","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1038\/nm.3947","article-title":"Loss of BAP1 function leads to EZH2-dependent transformation","volume":"21","author":"LaFave","year":"2015","journal-title":"Nat Med"},{"issue":"6","key":"10.1016\/j.ucl.2023.01.010_bib61","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1136\/jmedgenet-2014-102912","article-title":"A\u00a0germline mutation in PBRM1 predisposes to renal cell carcinoma","volume":"52","author":"Benusiglio","year":"2015","journal-title":"J\u00a0Med Genet"},{"issue":"4","key":"10.1016\/j.ucl.2023.01.010_bib62","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1006\/scbi.2000.0151","article-title":"Inherited epithelial tumors of the kidney: old and new diseases","volume":"10","author":"Zbar","year":"2000","journal-title":"Semin Cancer Biol"},{"key":"10.1016\/j.ucl.2023.01.010_bib63","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/ng0597-68","article-title":"Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas","volume":"16","author":"Schmidt","year":"1997","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.ucl.2023.01.010_bib64","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/1727","article-title":"Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas","volume":"20","author":"Zhuang","year":"1998","journal-title":"Nat Genet"},{"issue":"2","key":"10.1016\/j.ucl.2023.01.010_bib65","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/S0002-9440(10)65147-4","article-title":"Hereditary and sporadic papillary renal carcinomas with c-met mutations share a distinct morphological phenotype","volume":"155","author":"Lubensky","year":"1999","journal-title":"Am J Pathol"},{"issue":"4995","key":"10.1016\/j.ucl.2023.01.010_bib66","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1126\/science.1846706","article-title":"Identification of the hepatocyte growth factor receptor as the c-met proto-oncogene product","volume":"251","author":"Bottaro","year":"1991","journal-title":"Science"},{"issue":"2","key":"10.1016\/j.ucl.2023.01.010_bib67","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/0092-8674(94)90318-2","article-title":"A\u00a0multifunctional docking site mediates signaling and transformation by the hepatocyte growth factor\/scatter factor receptor family","volume":"77","author":"Ponzetto","year":"1994","journal-title":"Cell"},{"issue":"2","key":"10.1016\/j.ucl.2023.01.010_bib68","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1073\/pnas.90.2.649","article-title":"Transfer of mitogenic and invasive response to scatter factor\/hepatocyte growth factor by transfection of human MET protooncogene","volume":"90","author":"Giordano","year":"1993","journal-title":"Proc Natl Acad Sci"},{"issue":"6","key":"10.1016\/j.ucl.2023.01.010_bib69","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1038\/nrd2530","article-title":"Drug development of MET inhibitors: targeting oncogene addiction and expedience","volume":"7","author":"Comoglio","year":"2008","journal-title":"Nat Rev Drug Discov"},{"issue":"4","key":"10.1016\/j.ucl.2023.01.010_bib70","first-page":"306","article-title":"Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer","volume":"30","author":"Consortium","year":"2002","journal-title":"Nat Genet"},{"issue":"6","key":"10.1016\/j.ucl.2023.01.010_bib71","doi-asserted-by":"crossref","first-page":"3387","DOI":"10.1073\/pnas.051633798","article-title":"Inherited susceptibility to uterine leiomyomas and renal cell cancer","volume":"98","author":"Launonen","year":"2001","journal-title":"Proc Natl Acad Sci"},{"issue":"1","key":"10.1016\/j.ucl.2023.01.010_bib72","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1086\/376435","article-title":"Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America","volume":"73","author":"Toro","year":"2003","journal-title":"Am J Hum Genet"},{"issue":"12","key":"10.1016\/j.ucl.2023.01.010_bib73","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1002\/cncy.22071","article-title":"Clues to recognition of fumarate hydratase-deficient renal cell carcinoma: Findings from cytologic and limited biopsy samples","volume":"126","author":"Shyu","year":"2018","journal-title":"Cancer Cytopathol"},{"issue":"2","key":"10.1016\/j.ucl.2023.01.010_bib74","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1038\/ncpuro0711","article-title":"Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer","volume":"4","author":"Sudarshan","year":"2007","journal-title":"Nat Clin Pract Urol"},{"issue":"21","key":"10.1016\/j.ucl.2023.01.010_bib75","doi-asserted-by":"crossref","first-page":"3957","DOI":"10.1002\/cncr.33679","article-title":"Genetic risk assessment for hereditary renal cell carcinoma: Clinical consensus statement","volume":"127","author":"Bratslavsky","year":"2021","journal-title":"Cancer"},{"key":"10.1016\/j.ucl.2023.01.010_bib76","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.semcdb.2019.05.002","article-title":"Fumarate hydratase in cancer: A multifaceted tumour suppressor","volume":"98","author":"Schmidt","year":"2020","journal-title":"Semin Cell Dev Biol"},{"issue":"3","key":"10.1016\/j.ucl.2023.01.010_bib77","doi-asserted-by":"crossref","first-page":"640","DOI":"10.3390\/metabo4030640","article-title":"The Succinated Proteome of FH-Mutant Tumours","volume":"4","author":"Yang","year":"2014","journal-title":"Metabolites"},{"issue":"7","key":"10.1016\/j.ucl.2023.01.010_bib78","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1038\/modpathol.2013.215","article-title":"Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry","volume":"27","author":"Reyes","year":"2014","journal-title":"Mod Pathol"},{"issue":"4","key":"10.1016\/j.ucl.2023.01.010_bib79","doi-asserted-by":"crossref","first-page":"1549","DOI":"10.4143\/crt.2019.086","article-title":"Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients","volume":"51","author":"Choi","year":"2019","journal-title":"Cancer Res Treat"},{"issue":"7363","key":"10.1016\/j.ucl.2023.01.010_bib80","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/nature10363","article-title":"Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase","volume":"477","author":"Frezza","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.ucl.2023.01.010_bib81","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1186\/1471-2164-15-158","article-title":"High throughput synthetic lethality screen reveals a tumorigenic role of adenylate cyclase in fumarate hydratase-deficient cancer cells","volume":"15","author":"Boettcher","year":"2014","journal-title":"BMC Genom"},{"issue":"2","key":"10.1016\/j.ucl.2023.01.010_bib82","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.celrep.2018.12.043","article-title":"Functional Genomics Reveals Synthetic Lethality between Phosphogluconate Dehydrogenase and Oxidative Phosphorylation","volume":"26","author":"Sun","year":"2019","journal-title":"Cell Rep"},{"key":"10.1016\/j.ucl.2023.01.010_bib83","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1001\/archderm.1977.01640120042005","article-title":"Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons","volume":"113","author":"Birt","year":"1977","journal-title":"Arch. Derm."},{"issue":"1","key":"10.1016\/j.ucl.2023.01.010_bib84","first-page":"45","article-title":"Hereditary multiple fibrofolliculomas, trichodiscomas and acrochordons: syndrome of Birt-Hogg-Dube","volume":"11","author":"Scalvenzi","year":"1998","journal-title":"J\u00a0Eur Acad Dermatol Venereol"},{"issue":"6","key":"10.1016\/j.ucl.2023.01.010_bib85","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/jmg.2007.054304","article-title":"BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports","volume":"45","author":"Toro","year":"2008","journal-title":"J\u00a0Med Genet"},{"issue":"2","key":"10.1016\/j.ucl.2023.01.010_bib86","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1378\/chest.07-0042","article-title":"Cystic lung disease in Birt-Hogg-Dube syndrome","volume":"132","author":"Ayo","year":"2007","journal-title":"Chest"},{"issue":"10","key":"10.1016\/j.ucl.2023.01.010_bib87","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1164\/rccm.200610-1483OC","article-title":"Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome","volume":"175","author":"Toro","year":"2007","journal-title":"Am J Respir Crit Care Med"},{"issue":"1","key":"10.1016\/j.ucl.2023.01.010_bib88","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1186\/s12890-022-02107-7","article-title":"Birt-Hogg-Dube syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice","volume":"22","author":"Sriram","year":"2022","journal-title":"BMC Pulm Med"},{"issue":"1","key":"10.1016\/j.ucl.2023.01.010_bib89","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/s10689-017-0008-8","article-title":"Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion","volume":"17","author":"Schneider","year":"2018","journal-title":"Fam Cancer"},{"issue":"4","key":"10.1016\/j.ucl.2023.01.010_bib90","first-page":"393","article-title":"Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome","volume":"11","author":"Zbar","year":"2002","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"issue":"37","key":"10.1016\/j.ucl.2023.01.010_bib91","doi-asserted-by":"crossref","first-page":"5239","DOI":"10.1038\/sj.onc.1204703","article-title":"Birt-Hogg-Dube syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2","volume":"20","author":"Khoo","year":"2001","journal-title":"Oncogene"},{"issue":"4","key":"10.1016\/j.ucl.2023.01.010_bib92","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1086\/323744","article-title":"Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2","volume":"69","author":"Schmidt","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.ucl.2023.01.010_bib93","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S1535-6108(02)00104-6","article-title":"Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome","volume":"2","author":"Nickerson","year":"2002","journal-title":"Cancer Cell"},{"issue":"42","key":"10.1016\/j.ucl.2023.01.010_bib94","doi-asserted-by":"crossref","first-page":"15552","DOI":"10.1073\/pnas.0603781103","article-title":"Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling","volume":"103","author":"Baba","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"10.1016\/j.ucl.2023.01.010_bib95","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/j.molcel.2013.09.016","article-title":"The folliculin tumor suppressor is a GAP for the RagC\/D GTPases that signal amino acid levels to mTORC1","volume":"52","author":"Tsun","year":"2013","journal-title":"Mol Cell"},{"key":"10.1016\/j.ucl.2023.01.010_bib96","doi-asserted-by":"crossref","first-page":"15866","DOI":"10.1038\/ncomms15866","article-title":"Negative regulation of EGFR signalling by the human folliculin tumour suppressor protein","volume":"8","author":"Laviolette","year":"2017","journal-title":"Nat Commun"},{"issue":"37","key":"10.1016\/j.ucl.2023.01.010_bib97","doi-asserted-by":"crossref","first-page":"eadd2926","DOI":"10.1126\/sciadv.add2926","article-title":"Structural basis for FLCN RagC GAP activation in MiT-TFE substrate-selective mTORC1 regulation","volume":"8","author":"Jansen","year":"2022","journal-title":"Sci Adv"},{"key":"10.1016\/j.ucl.2023.01.010_bib98","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/s41525-020-00148-7","article-title":"Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome","volume":"5","author":"Kim","year":"2020","journal-title":"NPJ Genom Med"},{"key":"10.1016\/j.ucl.2023.01.010_bib99","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.pediatrneurol.2021.07.011","article-title":"Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations","volume":"123","author":"Northrup","year":"2021","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.ucl.2023.01.010_bib100","doi-asserted-by":"crossref","first-page":"972","DOI":"10.3389\/fneur.2020.00972","article-title":"Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas","volume":"11","author":"Kingswood","year":"2020","journal-title":"Front Neurol"},{"issue":"3","key":"10.1016\/j.ucl.2023.01.010_bib101","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1093\/ndt\/gfy063","article-title":"Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness","volume":"34","author":"Kingswood","year":"2019","journal-title":"Nephrol Dial Transplant"},{"issue":"9","key":"10.1016\/j.ucl.2023.01.010_bib102","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1001\/jamaoncol.2018.1986","article-title":"Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma","volume":"4","author":"Carlo","year":"2018","journal-title":"JAMA Oncol"}],"container-title":["Urologic Clinics of North America"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0094014323000101?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0094014323000101?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T13:56:45Z","timestamp":1758808605000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0094014323000101"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5]]},"references-count":102,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["S0094014323000101"],"URL":"https:\/\/doi.org\/10.1016\/j.ucl.2023.01.010","relation":{},"ISSN":["0094-0143"],"issn-type":[{"value":"0094-0143","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diseases of Hereditary Renal Cell Cancers","name":"articletitle","label":"Article Title"},{"value":"Urologic Clinics of North America","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ucl.2023.01.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}