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

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 chromo...

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Bibliographic Details
Published in:International journal of cancer 2004-04, Vol.109 (3), p.472-475
Main Authors: Nagy, Anett, Zoubakov, Dmitri, Stupar, Zorica, Kovacs, Gyula
Format: Article
Language:English
Subjects:
Adenoma, Oxyphilic - genetics
allelic changes
Biological and medical sciences
Carcinoma, Renal Cell - genetics
Chromosomes, Human, Pair 17 - genetics
DNA Mutational Analysis
Estrone - genetics
Exons - genetics
folliculin gene
Humans
Kidney - physiology
Kidney Neoplasms - genetics
Kidneys
Loss of Heterozygosity
Medical sciences
Microsatellite Repeats
mutation
Mutation - genetics
Nephrology. Urinary tract diseases
Polymorphism, Single Nucleotide
renal cell cancer
Tumors
Tumors of the urinary system
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Summary: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. © 2004 Wiley‐Liss, Inc.
ISSN:0020-7136
1097-0215
DOI:10.1002/ijc.11694