Hereditary leiomyomatosis and renal cell carcinoma

References

• FerlayJShinHRBrayFFormanDMathersCParkinDMEstimates of worldwide burden of cancer in 2008: GLOBOCAN 2008Int J Cancer20101272893291721351269
   PubMed Web of Science ®Google Scholar
• LinehanWMWaltherMMZbarBThe genetic basis of cancer of the kidneyJ Urol20031702163217214634372
   PubMed Web of Science ®Google Scholar
• LinehanWMGenetic basis of kidney cancer: role of genomics for the development of disease-based therapeuticsGenome Res2012222089210023038766
   PubMed Web of Science ®Google Scholar
• LinehanWMSrinivasanRSchmidtLSThe genetic basis of kidney cancer: a metabolic diseaseNat Rev Urol2010727728520448661
   PubMed Web of Science ®Google Scholar
• LatifFToryKGnarraJRIdentification of the von Hippel-Lindau disease tumor suppressor geneScience1993260131713208493574
   PubMed Web of Science ®Google Scholar
• LonserRRGlennGMWaltherMMvon Hippel-Lindau diseaseLancet20033612059206712814730
   PubMed Web of Science ®Google Scholar
• Cancer Genome Atlas Research NetworkComprehensive molecular characterization of clear cell renal cell carcinomaNature2013499434923792563
   PubMed Web of Science ®Google Scholar
• ZbarBGlennGMLubenskyIAHereditary papillary renal cell carcinoma: clinical studies in 10 familiesJ Urol19951539079127853572
   PubMed Web of Science ®Google Scholar
• SchmidtLSDuhFMChenFGermline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomasNat Genet19971668739140397
   PubMed Web of Science ®Google Scholar
• JeffersMSchmidtLSNakaigawaNActivating mutations for the met tyrosine kinase receptor in human cancerProc Natl Acad Sci U S A19979411445114509326629
   PubMed Web of Science ®Google Scholar
• MillerMGinalskiKLesyngBNakaigawaNSchmidtLZbarBStructural basis of oncogenic activation caused by point mutations in the kinase domain of the MET proto-oncogene: modeling studiesProteins200144324311354004
   PubMed Web of Science ®Google Scholar
• BirtARHoggGRDubéWJHereditary multiple fibrofolliculomas with trichodiscomas and acrochordonsArch Dermatol197711316741677596896
   PubMed Web of Science ®Google Scholar
• ToroJRGlennGDurayPBirt-Hogg-Dubé syndrome: a novel marker of kidney neoplasiaArch Dermatol19991351195120210522666
   PubMed Web of Science ®Google Scholar
• NickersonMLWarrenMBToroJRMutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndromeCancer Cell2002215716412204536
   PubMed Web of Science ®Google Scholar
• ZbarBAlvordWGGlennGMRisk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndromeCancer Epidemiol Biomarkers Prev20021139340011927500
   PubMed Web of Science ®Google Scholar
• PavlovichCPWaltherMMEylerRARenal tumors in the Birt-Hogg-Dubé syndromeAm J Surg Pathol2002261542155212459621
   PubMed Web of Science ®Google Scholar
• VanharantaSBuchtaMMcWhinneySREarly-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paragangliomaAm J Hum Genet20047415315914685938
   PubMed Web of Science ®Google Scholar
• MalinocASullivanMWiechTBiallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3Endocr Relat Cancer20121928329022351710
   PubMed Web of Science ®Google Scholar
• RickettsCJShuchBVockeCDSuccinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancerJ Urol20121882063207123083876
   PubMed Web of Science ®Google Scholar
• TomlinsonIPAlamNARowanAJGermline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancerNat Genet20023040641011865300
   PubMed Web of Science ®Google Scholar
• LinehanWMRouaultTAMolecular pathways: fumarate hydratase-deficient kidney cancer – targeting the Warburg effect in cancerClin Cancer Res2013193345335223633457
   PubMed Web of Science ®Google Scholar
• ReedWBWalkerRHorowitzRCutaneous leiomyomata with uterine leiomyomataActa Derm Venereol1973534094164127477
   PubMed Web of Science ®Google Scholar
• LaunonenVVierimaaOKiuruMInherited susceptibility to uterine leiomyomas and renal cell cancerProc Natl Acad Sci U S A2001983387339211248088
   PubMed Web of Science ®Google Scholar
• ToroJRNickersonMLWeiMHMutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North AmericaAm J Hum Genet2003739510612772087
   PubMed Web of Science ®Google Scholar
• WeiMHToureOGlennGMNovel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancerJ Med Genet200643182715937070
   PubMed Web of Science ®Google Scholar
• SmitDLMensenkampARBadeloeSHereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysisClin Genet201179495920618355
   PubMed Web of Science ®Google Scholar
• StewartLGlennGMStrattonPAssociation of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancerArch Dermatol20081441584159219075141
   PubMedGoogle Scholar
• AlamNABarclayERowanAJClinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndromeArch Dermatol200514119920615724016
   PubMedGoogle Scholar
• Martinez-MirAGlaserBChuangGSGermline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomataJ Invest Dermatol200312174174414632190
   PubMed Web of Science ®Google Scholar
• Sanz-OrtegaJVockeCStrattonPLinehanWMMerinoMJMorphologic and molecular characteristics of uterine leiomyomas in hereditary leiomyomatosis and renal cancer (HLRCC) syndromeAm J Surg Pathol201337748023211287
   PubMed Web of Science ®Google Scholar
• LehtonenRKiuruMVanharantaSBiallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumorsAm J Pathol2004164172214695314
   PubMed Web of Science ®Google Scholar
• GrubbRL3rdFranksMEToroJHereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancerJ Urol20071772074208017509289
   PubMed Web of Science ®Google Scholar
• GardieBRemenierasAKattygnarathDNovel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinomaJ Med Genet20114822623421398687
   PubMed Web of Science ®Google Scholar
• MerinoMJTorres-CabalaCPintoPALinehanWMThe morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndromeAm J Surg Pathol2007311578158517895761
   PubMed Web of Science ®Google Scholar
• AlamNARowanAJWorthamNCGenetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiencyHum Mol Genet2003121241125212761039
   PubMed Web of Science ®Google Scholar
• ShuchBRickettsCJVockeCDAdrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancerJ Urol201318943043522982371
   PubMed Web of Science ®Google Scholar
• AlrashdiILevineSPatersonJHereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patientFam Cancer2010923924319967458
   PubMed Web of Science ®Google Scholar
• BayleyJPLaunonenVTomlinsonIPThe FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiencyBMC Med Genet200892018366737
   PubMed Web of Science ®Google Scholar
• AlamNAOlpinSLeighIMFumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancerBr J Dermatol2005153111716029320
   PubMed Web of Science ®Google Scholar
• ChuangGSMartinez-MirAGeyerAGermline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomataJ Am Acad Dermatol20055241041615761418
   PubMed Web of Science ®Google Scholar
• ChanIWongTMartinez-MirAChristianoAMMcGrathJAFamilial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancerClin Exp Dermatol200530757815663510
   PubMed Web of Science ®Google Scholar
• HeinritzWPaaschUSticherlingMEvidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC)Ann Hum Genet200872354017908262
   PubMed Web of Science ®Google Scholar
• PithukpakornMWeiMHToureOFumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancerJ Med Genet20064375576216597677
   PubMed Web of Science ®Google Scholar
• IsaacsJSJungYJMoleDRHIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stabilityCancer Cell2005814315316098467
   PubMed Web of Science ®Google Scholar
• PollardPJBriereJJAlamNABAccumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutationsHum Mol Genet2005142231223915987702
   PubMed Web of Science ®Google Scholar
• AldersonNLWangYBlatnikMS-(2-succinyl)cysteine: a novel chemical modification of tissue proteins by a Krebs cycle intermediateArch Biochem Biophys20064501816624247
   PubMed Web of Science ®Google Scholar
• BardellaCEl-BahrawyMFrizzellNAberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation statusJ Pathol201122541121630274
   PubMed Web of Science ®Google Scholar
• KansanenEKuosmanenSMLeinonenHLevonenALThe Keap1-Nrf2 pathway: mechanisms of activation and dysregulation in cancerRedox Biol20131454924024136
   PubMed Web of Science ®Google Scholar
• AdamJHatipogluEO’FlahertyLRenal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signalingCancer Cell20112052453722014577
   PubMed Web of Science ®Google Scholar
• OoiAWongJCPetilloDAn antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinomaCancer Cell20112051152322014576
   PubMed Web of Science ®Google Scholar
• YangMSogaTPollardPJAdamJThe emerging role of fumarate as an oncometaboliteFront Oncol201228522866264
   PubMedGoogle Scholar
• ChoudharySMcLeodMTorchiaDRomanelliPMultiple cutaneous and uterine leiomyomatosis syndrome: a reviewJ Clin Aesthet Dermatol20136162123630637
   PubMedGoogle Scholar
• RitzmannSHannekenSNeumannNJRuzickaTKruseRType 2 segmental manifestation of cutaneous leiomyomatosis in four unrelated women with additional uterine leiomyomas (Reed’s syndrome)Dermatology2006212848716319483
   PubMed Web of Science ®Google Scholar
• RothmanAGlennGMChoykeLSrinivasanRLinehanWMCowenEWMultiple painful cutaneous nodules and renal massJ Am Acad Dermatol20065568368617010749
   PubMed Web of Science ®Google Scholar