Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinoma.
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.
Gad
S
S
Génétique Oncologique EPHE, CNRS FRE-2939, Institut de Cancérologie Gustave Roussy, 94800 Villejuif, France.
Lefèvre
S H
SH
Khoo
S K
SK
Giraud
S
S
Vieillefond
A
A
Vasiliu
V
V
Ferlicot
S
S
Molinié
V
V
Denoux
Y
Y
Thiounn
N
N
Chrétien
Y
Y
Méjean
A
A
Zerbib
M
M
Benoît
G
G
Hervé
J M
JM
Allègre
G
G
Bressac-de Paillerets
B
B
Teh
B T
BT
Richard
S
S
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*
C476078:FLCN protein, human; D011506:Proteins; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins; D051539:Hepatocyte Nuclear Factor 1-beta