title: [Frequent somatic mutations of the von Hippel-Lindau (VHL) tumor suppressor gene and its meaning in sporadic human renal clear cell carcinoma].
abstract: OBJECTIVE
  To investigate the mutation of VHL gene, an important tumor suppressor gene in primary sporadic human renal cell carcinoma (RCC)  and analyse its relationships with pathological stage and grade of renal cell carcinoma.
  
  
  METHODS
  We analyzed 57 cases of primary sporadic Chinese renal clear carcinoma using the polymerase chain reaction (PCR) and denaturing high  performance liquid chromatography(DHPLC). All positive cases in DHPLC analysis were further characterized by direct sequencing.
  
  
  RESULTS
  Somatic mutations were detected in 30 (53%) of 57 clear cell renal carcinomas including 13 deletions, 2 insertions, and 15 missense mutations. These mutations mainly occurred in the last one-third region of exon 1, 2,and 3.
  
  
  CONCLUSIONS
  VHL tumor suppressor gene is one of the major tumor suppressor genes in human renal cell carcinoma  and there are frequent mutations of VHL in primary sporadic Chinese renal clear cell carcinomas. The mutations of VHL gene were irrespective of the age and pathological grade and stage of patients.
authors.affiliation: Department of Urology, Peking University First Hospital, Beijing 100034, China. gongkan0582@sina.com
authors.forename: Kan
authors.initials: K
authors.lastname: Gong
authors.forename: Ning
authors.initials: N
authors.lastname: Zhang
authors.forename: Hong-feng
authors.initials: HF
authors.lastname: Guo
authors.forename: Zhi-wen
authors.initials: ZW
authors.lastname: Zhang
authors.forename: Dian-qi
authors.initials: DQ
authors.lastname: Xin
authors.forename: Yan-qun
authors.initials: YQ
authors.lastname: Na
mesh_terms: D000328:Adult; D000368:Aged; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D002851:Chromatography, High Pressure Liquid; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D051794:Von Hippel-Lindau Tumor Suppressor Protein
chemical_list: D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human