Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma

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BHD, TP53, and HNF1β 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 HNF1β mutations, (84% mutations involved chromophobe), suggesting a role for BHD a...

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Detalles Bibliográficos
Autores principales: Gad, S, Lefèvre, S H, Khoo, S K, Giraud, S, Vieillefond, A, Vasiliu, V, Ferlicot, S, Molinié, V, Denoux, Y, Thiounn, N, Chrétien, Y, Méjean, A, Zerbib, M, Benoît, G, Hervé, J M, Allègre, G, Bressac-de Paillerets, B, Teh, B T, Richard, S
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group 2007
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2360004/
https://www.ncbi.nlm.nih.gov/pubmed/17133269
http://dx.doi.org/10.1038/sj.bjc.6603492
Descripción
Sumario:BHD, TP53, and HNF1β 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 HNF1β mutations, (84% mutations involved chromophobe), suggesting a role for BHD and TP53 in chromophobe subtype.

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