Germline and Somatic Mutations in von Hippel-Lindau Disease Gene and Its Significance in the Development of Kidney Cancer

1999 ◽  
pp. 1-10 ◽  
Author(s):  
T. Shuin ◽  
K. Kondo ◽  
S. Ashida ◽  
H. Okuda ◽  
M. Yoshida ◽  
...  
Keyword(s):  
Kidney Cancer ◽  
Somatic Mutations ◽  
Disease Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

scholarly journals Somatic mutations of the von Hippel-Lindau disease gene in renal carcinomas occurring in patients with long-term dialysis

2007 ◽  
Vol 22 (7) ◽  
pp. 2052-2055 ◽  
Author(s):  
H. Inoue ◽  
N. Nonomura ◽  
Y. Kojima ◽  
M. Shiba ◽  
D. Oka ◽  
...  
Keyword(s):  
Somatic Mutations ◽  
Disease Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Molecular Analysis of the von Hippel-Lindau Disease Gene

2001 ◽  
pp. 193-216
Author(s):  
Allen Chernoff ◽  
Viera Kasparcova ◽  
W. Marston Linehan ◽  
Catherine A. Stolle
Keyword(s):  
Molecular Analysis ◽  
Disease Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Taql and Pstl RFLPs in the von Hippel–Lindau disease gene (VHL)

1993 ◽  
Vol 2 (10) ◽  
pp. 1750-1750 ◽  
Author(s):  
F.M. Richards ◽  
F. Latif ◽  
M.I. Lerman ◽  
B. Zbar ◽  
E.R. Maher
Keyword(s):  
Disease Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Genetics and molecular biology of renal cancer

2017 ◽  
Author(s):  
Mariam Jafri ◽  
Eamonn R Maher
Keyword(s):  
Clinical Features ◽  
Kidney Cancer ◽  
Renal Cancer ◽  
Cancer Syndrome ◽  
Inherited Disorders ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Molecular Pathophysiology ◽  
Cancer Syndromes ◽  
Key Pathways

Renal cell carcinoma (RCC) is the exemplar of how the understanding of the molecular pathogenesis of rare inherited disorders can inform an understanding of the key pathways involved in the pathogenesis of sporadic cancer. In this chapter we describe the clinical and pathological features of the inherited kidney cancer syndromes: von Hippel Lindau disease (VHL); Birt-Hogg-Dube syndrome; hereditary leiomyomatosis and renal cancer syndrome; succinate dehydrogenase disorders; hereditary papillary renal cancer; and translocation-associated kidney cancer. Though individually rare, recognition of individuals with familial kidney cancer is important as they present specific clinical challenges to the urological surgeon because of their propensity to develop multicentric/bilateral tumours. Furthermore, different familial RCC predisposition syndromes are associated with different extra renal clinical features and have specific surveillance needs. Despite differences in clinical features, there is some overlap in the molecular pathophysiology between the disorders and these highlight the key signalling pathways for RCC oncogenesis.

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