title: Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinoma.
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.
authors.affiliation: Génétique Oncologique EPHE, CNRS FRE-2939, Institut de Cancérologie Gustave Roussy, 94800 Villejuif, France.
authors.forename: S
authors.initials: S
authors.lastname: Gad
authors.forename: S H
authors.initials: SH
authors.lastname: Lefèvre
authors.forename: S K
authors.initials: SK
authors.lastname: Khoo
authors.forename: S
authors.initials: S
authors.lastname: Giraud
authors.forename: A
authors.initials: A
authors.lastname: Vieillefond
authors.forename: V
authors.initials: V
authors.lastname: Vasiliu
authors.forename: S
authors.initials: S
authors.lastname: Ferlicot
authors.forename: V
authors.initials: V
authors.lastname: Molinié
authors.forename: Y
authors.initials: Y
authors.lastname: Denoux
authors.forename: N
authors.initials: N
authors.lastname: Thiounn
authors.forename: Y
authors.initials: Y
authors.lastname: Chrétien
authors.forename: A
authors.initials: A
authors.lastname: Méjean
authors.forename: M
authors.initials: M
authors.lastname: Zerbib
authors.forename: G
authors.initials: G
authors.lastname: Benoît
authors.forename: J M
authors.initials: JM
authors.lastname: Hervé
authors.forename: G
authors.initials: G
authors.lastname: Allègre
authors.forename: B
authors.initials: B
authors.lastname: Bressac-de Paillerets
authors.forename: B T
authors.initials: BT
authors.lastname: Teh
authors.forename: S
authors.initials: S
authors.lastname: Richard
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics*; D016158:Genes, p53; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C476078:FLCN protein, human; D011506:Proteins; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins; D051539:Hepatocyte Nuclear Factor 1-beta