Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinoma

Br J Cancer. 2007 Jan 29;96(2):336-40. doi: 10.1038/sj.bjc.6603492. Epub 2006 Nov 28.

Abstract

BHD, TP53, and HNF1beta on chromosome 17 were studied in 92 cases of renal cell carcinoma (46 chromophobe, 19 clear cell, 18 oncocytoma, and nine papillary). Six, thirteen, and zero cases had, respectively BHD, TP53, and HNF1beta mutations, (84% mutations involved chromophobe), suggesting a role for BHD and TP53 in chromophobe subtype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinoma, Renal Cell / genetics*
  • Genes, p53*
  • Hepatocyte Nuclear Factor 1-beta / genetics*
  • Humans
  • Kidney Neoplasms / genetics*
  • Mutation*
  • Polymorphism, Single Nucleotide
  • Proteins / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Tumor Suppressor Proteins / genetics*

Substances

  • FLCN protein, human
  • Proteins
  • Proto-Oncogene Proteins
  • Tumor Suppressor Proteins
  • Hepatocyte Nuclear Factor 1-beta