title: [Frequent somatic mutations of the von Hippel-Lindau tumor suppressor gene in primary sporadic human renal clear cell carcinomas].
abstract: OBJECTIVE
  To investigate the mutation of Von Hippel-Lndau (VHL) tumor suppressor gene in patients with primary sporadic human renal cell carcinoma (RCC).
  
  
  METHODS
  DNA samples from 20 primary sporadic renal clear carcinoma patients were analyzed by polymerase chain reaction, single strand conformational polymorphism analyses (PCR-SSCP) and direct sequencing.
  
  
  RESULTS
  Somatic mutations of the VHL gene were detected in 11 (55%) of the 20 clear cell renal carcinomas, including 6 deletions, 2 insertions, and 3 missense mutations. These mutations mainly occurred in the last one-third region of exon 1, 2 and 3 of the VHL gene.
  
  
  CONCLUSIONS
  The VHL gene may frequently mutate in Chinese patients with primary sporadic renal clear cell carcinoma. The VHL gene may be useful as a marker gene for the diagnosis of RCC and as a target gene for molecular therapy.
authors.affiliation: Department of Urology, The First Teaching Hospital, Peking University, Beijing 100034, China.
authors.forename: K
authors.initials: K
authors.lastname: Gong
authors.forename: Z
authors.initials: Z
authors.lastname: Zhang
authors.forename: D
authors.initials: D
authors.lastname: Xin
mesh_terms: D000328:Adult; D000368:Aged; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein
chemical_list: D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human