Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family

References

• Kaelin WG. Von Hippel-Lindau disease. Annu Rev Pathol 2007; 2:145-73; PMID:18039096; http://dx.doi.org/10.1146/annurev.pathol.2.010506.092049
   PubMed Web of Science ®Google Scholar
• Nordstrom-O'Brien M, van der Luijt RB, van Rooijen E, van den Ouweland AM, Majoor-Krakauer DF, Lolkema MP, van Brussel A, Voest EE, Giles RH. Genetic analysis of von Hippel-Lindau disease. Hum Mutat 2010; 31:521-37; PMID:20151405; http://dx.doi.org/10.1002/humu.21219
   PubMed Web of Science ®Google Scholar
• Crossey PA, Richards FM, Foster K, Green JS, Prowse A, Latif F, Lerman MI, Zbar B, Affara NA, Ferguson-Smith MA, et al. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet 1994b; 3:1303-8; PMID:7987306; http://dx.doi.org/10.1093/hmg/3.8.1303
   PubMed Web of Science ®Google Scholar
• Garcia A, Matias-Guiu X, Cabezas R, Chico A, Prat J, Baiget M, De Leiva A. Molecular diagnosis of von Hippel-Lindau disease in a kindred with predominance of familial phaeochromocytoma. ClinEndocrinol (Oxf) 1997; 46:359-63; PMID:9156047; http://dx.doi.org/10.1046/j.1365-2265.1997.00149.x
   PubMed Web of Science ®Google Scholar
• Chen S, Jin B, Xu L, Fu G, Meng H, Liu B, Li J, Xia D. Cystic renal cell carcinoma: a report of 67 cases including 4 cases with concurrent renal cell carcinoma. BMC Urol 2014; 14:87; PMID:25381150; http://dx.doi.org/10.1186/1471-2490-14-87
   PubMed Web of Science ®Google Scholar
• Stebbins CE, Kaelin WG Jr, Pavletich NP. Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function. Science 1999; 284:455-61; PMID:10205047; http://dx.doi.org/10.1126/science.284.5413.455
   PubMed Web of Science ®Google Scholar
• Nguyen HC, Yang H, Fribourgh JL, Wolfe LS, Xiong Y. Insights into Cullin-RING E3 ubiquitin ligase recruitment: structure of the VHL-EloBC-Cul2 complex. Structure 2015; 23:441-9; PMID:25661653; http://dx.doi.org/10.1016/j.str.2014.12.014
   PubMed Web of Science ®Google Scholar
• Gossage L, Pires DE, Olivera-Nappa Á, Asenjo J, Bycroft M, Blundell TL, Eisen T. An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma. Hum Mol Genet 2014; 23:5976-88; PMID:24969085; http://dx.doi.org/10.1093/hmg/ddu321
   PubMed Web of Science ®Google Scholar
• Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet 2011; 19:617-23; PMID:21386872; http://dx.doi.org/10.1038/ejhg.2010.175
   PubMed Web of Science ®Google Scholar
• Roupret M, Hopirtean V, Mejean A, Thiounn N, Dufour B, Chretien Y, Chauveau D, Richard S. Nephron sparing surgery for renal cell carcinoma and von Hippel-Lindau's disease: a single center experience. J Urol 2003; 170:1752-5; PMID:14532769; http://dx.doi.org/10.1097/01.ju.0000092780.85876.de
   PubMed Web of Science ®Google Scholar
• Agarwal A, Gupta S, Mishra AK, Singh N, Mishra SK. Normotensive pheochromocytoma: institutional experience. World J Surg 2005; 29:1185-8; PMID:16091986; http://dx.doi.org/10.1007/s00268-005-7839-4
   PubMed Web of Science ®Google Scholar
• Lenders JW, Pacak K, Walther MM, Linehan WM, Mannelli M, Friberg P, Keiser HR, Goldstein DS, Eisenhofer G. Biochemical diagnosis of pheochromocytoma: which test is best? JAMA 2002; 287:1427-34; PMID:11903030; http://dx.doi.org/10.1001/jama.287.11.1427
   PubMed Web of Science ®Google Scholar
• Eble JN. Multilocular cystic renal cell carcinoma. In: Eble JN, Sauter G, Epstein JI, et al, eds. Pathology and Genetics of Tumours of the Urinary System and Male Genital Organs. Lyon, France: IARC Press. 2004; World Health Organization Classification of Tumours.
   Google Scholar
• Halat S, Eble JN, Grignon DJ, Lopez-Beltran A, Montironi R, Tan PH, Wang M, Zhang S, MacLennan GT, Cheng L. Multilocular cystic renal cell carcinoma is a subtype of clear cell renal cell carcinoma. Mod Pathol 2010; 23:931-6; PMID:20348877; http://dx.doi.org/10.1038/modpathol.2010.78
   PubMed Web of Science ®Google Scholar
• Srigley JR, Delahunt B, Eble JN, Egevad L, Epstein JI, Grignon D, Hes O, Moch H, Montironi R, Tickoo SK, et al. The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia. Am J SurgPathol 2013; 37:1469-89; PMID:24025519; http://dx.doi.org/10.1097/PAS.0b013e318299f2d1
   Web of Science ®Google Scholar
• Kaelin WG Jr. The von Hippel-Lindau tumor suppressor gene and kidney cancer. Clin Cancer Res 2004; 10:6290S-5S; PMID:15448019; http://dx.doi.org/10.1158/1078-0432.CCR-sup-040025
   PubMed Web of Science ®Google Scholar
• Choyke PL, Glenn GM, Walther MM, Zbar B, Weiss GH, Alexander RB, Hayes WS, Long JP, Thakore KN, Linehan WM. The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients. AJR Am J Roentgenol 1992; 159:1229-34; PMID:1442389; http://dx.doi.org/10.2214/ajr.159.6.1442389
   PubMed Web of Science ®Google Scholar
• Hwang S, Ku CR, Lee JI, Hur KY, Lee MS, Lee CH, Koo KY, Lee JS, Rhee Y. Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease. J Hum Genet 2014; 59:488-93; PMID:25078357; http://dx.doi.org/10.1038/jhg.2014.61
   PubMed Web of Science ®Google Scholar
• Dandanell M, Friis-Hansen L, Sunde L, Nielsen FC, Hansen TV. Identification of 3 novel VHL germ-line mutations in Danish VHL patients. BMC Med Genet 2012; 13:54; PMID:22799452; http://dx.doi.org/10.1186/1471-2350-13-54
   PubMed Web of Science ®Google Scholar
• Erlic Z, Hoffmann MM, Sullivan M, Franke G, Peczkowska M, Harsch I, Schott M, Gabbert HE, Valimäki M, Preuss SF, et al. Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. J Clin Endocrinol Metab 2010; 95:308-13; PMID:19906784; http://dx.doi.org/10.1210/jc.2009-1728
   PubMed Web of Science ®Google Scholar
• Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17:405-24; PMID:25741868; http://dx.doi.org/10.1038/gim.2015.30
   PubMed Web of Science ®Google Scholar