Lack of mutation of the folliculin gene in sporadic chromophobe renal cell carcinoma and renal oncocytoma.

Abstract:

:Germline mutation of the folliculin gene (BHD) at chromosome 17p11.2 is associated with the development of multiplex hamartomas of the hair follicles, chromophobe renal cell carcinomas (RCC) and renal oncocytomas (RO). We have analyzed the folliculin gene with sequencing for mutations and the chromosome 17p11.2 with microsatellites for allelic changes in sporadic ROs and chromophobe RCCs. Allelic loss at chromosome 17 was seen in 8 of 8 chromophobe RCCs whereas none of the 8 RO showed alteration at this chromosomal region. Sequencing all exons from genomic DNA failed to disclose mutations of the folliculin gene in any of the tumors. We found a single nucleotide polymorphism (SNP) of G/A (nt 74) at the first exon in the untranslated region of the folliculin gene. We did not find a correlation between the SNP G/A or loss of the G allele and the expression level of either splice variants of the folliculin gene. Our data suggest the folliculin gene does not play a role in the tumorigenesis of sporadic chromophobe RCCs and renal oncocytomas.

journal_name

Int J Cancer

authors

Nagy A,Zoubakov D,Stupar Z,Kovacs G

doi

10.1002/ijc.11694

keywords:

subject

Has Abstract

pub_date

2004-04-10 00:00:00

pages

472-5

issue

3

eissn

0020-7136

issn

1097-0215

journal_volume

109

pub_type

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