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VHL, the story of a tumour suppressor gene.

Nat Rev Cancer. 15: 55-64

Lindau's Disease. Review of the Literature and Study of a Large Kindred.

Am J Med. 36: 595-617

Identification of the von Hippel-Lindau disease tumor suppressor gene.

Science. 260: 1317-1320

VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.

Eur J Hum Genet. 22: 1149-1152

Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.

Hum Mol Genet. 31: 2728-2737

von Hippel-Lindau disease: genetic and clinical observations.

Front Horm Res. 28: 131-166

von Hippel-Lindau disease.

Lancet. 361: 2059-2067

The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease.

J Neurosurg. 98: 82-94

Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis.

Arch Ophthalmol. 125: 239-245

Ocular von Hippel-Lindau disease: clinical update and emerging treatments.

Curr Opin Ophthalmol. 19: 213-217

Loss of heterozygosity and somatic mutations of the VHL tumor suppressor gene in sporadic cerebellar hemangioblastomas.

Cancer Res. 58: 504-508

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathol Commun. 2: 167

Allelic deletions of the VHL gene detected in multiple microscopic clear cell renal lesions in von Hippel-Lindau disease patients.

Am J Pathol. 149: 2089-2094

Characterization of the renal pathology of a familial form of renal cell carcinoma associated with von Hippel-Lindau disease: clinical and molecular genetic implications.

J Urol. 153: 22-26

von Hippel-Lindau disease: genetic, clinical and imaging features.

Radiology. 194: 629-642

Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease.

JAMA. 277: 1461-1466

Tumors of the endolymphatic sac in patients with von Hippel-Lindau disease: implications for their natural history, diagnosis, and treatment.

J Neurosurg. 102: 503-512

Epididymal cystadenomas in von Hippel-Lindau disease.

Urology. 49: 926-931

Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.

Hum Mol Genet. 3: 1303-1308

Germline mutations in the von hippel-lindau disease tumor suppressor gene:correlations with phenotype.

Hum Mutat. 5: 66-75

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

Nat Genet. 32: 614-621

Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

Am J Hum Genet. 73: 412-419

Tumour suppression by the human von Hippel-Lindau gene product.

Nat Med. 1: 822-826

Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein.

Proc Natl Acad Sci U S A. 93: 10595-10599

The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis.

Nature. 399: 271-275

Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C.

Science. 269: 1444-1446

Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation.

Science. 292: 468-472

HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing.

Science. 292: 464-468

Genetic and functional studies implicate HIF1alpha as a 14q kidney cancer suppressor gene.

Cancer Discov. 1: 222-235

HIF-1alpha and HIF-2alpha differently regulate tumour development and inflammation of clear cell renal cell carcinoma in mice.

Nat Commun. 11: 4111

Inhibition of hypoxia-inducible factor is sufficient for growth suppression of VHL-/- tumors.

Mol Cancer Res. 2: 89-95

Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein.

Cancer Cell. 1: 237-246Rankin E.B. Tomaszewski J.E. Haase V.H.

Renal cyst development in mice with conditional inactivation of the von Hippel-Lindau tumor suppressor.

Cancer Res. 66: 2576-2583

Reductive glutamine metabolism by IDH1 mediates lipogenesis under hypoxia.

Nature. 481: 380-384

In vivo HIF-mediated reductive carboxylation is regulated by citrate levels and sensitizes VHL-deficient cells to glutamine deprivation.

Cell Metab. 17: 372-385

Glutaminase and poly(ADP-ribose) polymerase inhibitors suppress pyrimidine synthesis and VHL-deficient renal cancers.

J Clin Invest. 127: 1631-1645

Renal cancer in families with hereditary renal cancer: prospective analysis of a tumor size threshold for renal parenchymal sparing surgery.

J Urol. 161: 1475-1479

The relationship between renal tumor size and metastases in patients with von Hippel-Lindau disease.

J Urol. 172: 63-65

Evaluation, diagnosis and surveillance of renal masses in the setting of VHL disease.

World J Urol. 39: 2409-2415

Evaluation and management of pancreatic lesions in patients with von Hippel-Lindau disease.

Nat Rev Clin Oncol. 13: 537-549

Association of VHL Genotype With Pancreatic Neuroendocrine Tumor Phenotype in Patients With von Hippel-Lindau Disease.

JAMA Oncol. 4: 124-126

Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease.

N Engl J Med. 385: 2036-2046

Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.

Genet Med. 17: 610-620

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

J Med Genet. 55: 384-394

Germline SDHB mutations and familial renal cell carcinoma.

J Natl Cancer Inst. 100: 1260-1262

Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients.

Am J Surg Pathol. 38: 1588-1602

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.

Mod Pathol. 35: 836-849

Succinate Dehydrogenase-Deficient Renal Cell Carcinoma.

Arch Pathol Lab Med. 143: 643-647

Succinate dehydrogenase-deficient renal cell carcinoma: detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma.

Mod Pathol. 28: 80-94

International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.

Nat Rev Endocrinol. 17: 435-444

SDH mutations establish a hypermethylator phenotype in paraganglioma.

Cancer Cell. 23: 739-752

Cancer-Derived Succinate Promotes Macrophage Polarization and Cancer Metastasis via Succinate Receptor.

Mol Cell. 77: 213-227 e5

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

Nature. 480: 94-98

Cancer risks associated with the germline MITF(E318K) variant.

Sci Rep. 10: 17051

Germline BAP1 mutations predispose to renal cell carcinomas.

Am J Hum Genet. 92: 974-980

Germline BAP1 mutations predispose to malignant mesothelioma.

Nat Genet. 43: 1022-1025

Loss of BAP1 Expression in Basal Cell Carcinomas in Patients With Germline BAP1 Mutations.

Am J Clin Pathol. 143: 901-904de la Fouchardiere A. et al.

Germline BAP1 mutations predispose also to multiple basal cell carcinomas.

Clin Genet. 88: 273-277

Biological Mechanisms and Clinical Significance of BAP1 Mutations in Human Cancer.

Cancer Discov. 10: 1103-1120

Loss of BAP1 function leads to EZH2-dependent transformation.

Nat Med. 21: 1344-1349

A germline mutation in PBRM1 predisposes to renal cell carcinoma.

J Med Genet. 52: 426-430

Inherited epithelial tumors of the kidney: old and new diseases.

Semin Cancer Biol. 10: 313-318

Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.

Nat Genet. 16: 68-73

Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas.

Nat Genet. 20: 66-69

Hereditary and sporadic papillary renal carcinomas with c-met mutations share a distinct morphological phenotype.

Am J Pathol. 155: 517-526

Identification of the hepatocyte growth factor receptor as the c-met proto-oncogene product.

Science. 251: 802-804

A multifunctional docking site mediates signaling and transformation by the hepatocyte growth factor/scatter factor receptor family.

Cell. 77: 261-271

Transfer of mitogenic and invasive response to scatter factor/hepatocyte growth factor by transfection of human MET protooncogene.

Proc Natl Acad Sci. 90: 649-653Comoglio P.M. Giordano S. Trusolino L.

Drug development of MET inhibitors: targeting oncogene addiction and expedience.

Nat Rev Drug Discov. 7: 504-516

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

Nat Genet. 30: 306-310

Inherited susceptibility to uterine leiomyomas and renal cell cancer.

Proc Natl Acad Sci. 98: 3387-3392

Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.

Am J Hum Genet. 73: 95-106

Clues to recognition of fumarate hydratase-deficient renal cell carcinoma: Findings from cytologic and limited biopsy samples.

Cancer Cytopathol. 126: 992-1002

Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer.

Nat Clin Pract Urol. 4: 104-110

Genetic risk assessment for hereditary renal cell carcinoma: Clinical consensus statement.

Cancer. 127: 3957-3966Schmidt C. Sciacovelli M. Frezza C.

Fumarate hydratase in cancer: A multifaceted tumour suppressor.

Semin Cell Dev Biol. 98: 15-25

The Succinated Proteome of FH-Mutant Tumours.

Metabolites. 4: 640-654

Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.

Mod Pathol. 27: 1020-1027

Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients.

Cancer Res Treat. 51: 1549-1556

Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase.

Nature. 477: 225-228

High throughput synthetic lethality screen reveals a tumorigenic role of adenylate cyclase in fumarate hydratase-deficient cancer cells.

BMC Genom. 15: 158

Functional Genomics Reveals Synthetic Lethality between Phosphogluconate Dehydrogenase and Oxidative Phosphorylation.

Cell Rep. 26: 469-482 e5Birt A.R. Hogg G.R. Dube W.J.

Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons.

Arch. Derm. 113: 1674-1677

Hereditary multiple fibrofolliculomas, trichodiscomas and acrochordons: syndrome of Birt-Hogg-Dube.

J Eur Acad Dermatol Venereol. 11: 45-47

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports.

J Med Genet. 45: 321-331

Cystic lung disease in Birt-Hogg-Dube syndrome.

Chest. 132: 679-684

Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome.

Am J Respir Crit Care Med. 175: 1044-1053

Birt-Hogg-Dube syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice.

BMC Pulm Med. 22: 325

Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion.

Fam Cancer. 17: 135-139

Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome.

Cancer Epidemiol Biomarkers Prev. 11: 393-400

Birt-Hogg-Dube syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.

Oncogene. 20: 5239-5242

Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.

Am J Hum Genet. 69: 876-882

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.

Cancer Cell. 2: 157-164

Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.

Proc Natl Acad Sci U S A. 103: 15552-15557

The folliculin tumor suppressor is a GAP for the RagC/D GTPases that signal amino acid levels to mTORC1.

Mol Cell. 52: 495-505

Negative regulation of EGFR signalling by the human folliculin tumour suppressor protein.

Nat Commun. 8: 15866

Structural basis for FLCN RagC GAP activation in MiT-TFE substrate-selective mTORC1 regulation.

Sci Adv. 8: eadd2926

Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome.

NPJ Genom Med. 5: 40

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

Pediatr Neurol. 123: 50-66

Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas.

Front Neurol. 11: 972

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.

Nephrol Dial Transplant. 34: 502-508

Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.

JAMA Oncol. 4: 1228-1235