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Mutations in BHD and TP53 Genes, but Not in HNF1beta Gene, in a Large Series of Sporadic Chromophobe Renal Cell Carcinoma

Overview
Journal Br J Cancer
Specialty Oncology
Date 2006 Nov 30
PMID 17133269
Citations 32
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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.

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References
1.
Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn B . Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet. 1997; 17(4):384-5. DOI: 10.1038/ng1297-384. View

2.
Contractor H, Zariwala M, Bugert P, Zeisler J, Kovacs G . Mutation of the p53 tumour suppressor gene occurs preferentially in the chromophobe type of renal cell tumour. J Pathol. 1997; 181(2):136-9. DOI: 10.1002/(SICI)1096-9896(199702)181:2<136::AID-PATH766>3.0.CO;2-2. View

3.
Schmidt L, Nickerson M, Warren M, Glenn G, Toro J, Merino M . Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet. 2005; 76(6):1023-33. PMC: 1196440. DOI: 10.1086/430842. View

4.
Vocke C, Yang Y, Pavlovich C, Schmidt L, Nickerson M, Torres-Cabala C . High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors. J Natl Cancer Inst. 2005; 97(12):931-5. DOI: 10.1093/jnci/dji154. View

5.
Warburton H, Brady M, Vlatkovic N, Linehan W, Parsons K, Boyd M . p53 regulation and function in renal cell carcinoma. Cancer Res. 2005; 65(15):6498-503. DOI: 10.1158/0008-5472.CAN-05-0017. View