title: [Inactivation of the VHL gene in sporadic clear cell renal cancer].
abstract: Renal cell carcinoma is the most common variant of the kidney cancer, which accounts approximately 75% patients with this disease. The majority of those tumors are characterized by inactivation of the VHL gene suppressor as a result of mutations, allelic deletions and/or methylation. We have conducted the complex molecular-genetic analysis of 64 samples obtained from patients with the clear cell renal cancer. VHL mutations were detected by single strand conformation polymorphism and subsequent sequencing, loss of heterozygosity was analyzed using two STR-markers, methylation was tested by methylsensitive polymerase chain reaction. All revealed variations were statistically analyzed in respect to the parameters of primary tumors in various groups of patients. Seventeen VHL somatic mutations were detected, 12 from which were described for the first time. Allelic deletions of VHL were found in 31.6%, and methylation--in 7.8% samples of the renal cancer. As a whole, VHL inactivating events were presented in 46.9% cases of disease, in 51.7% -among renal cancer patients with first stage. We have not observed any association of mutations, loss of heterozygosity and methylation with clinical-pathological parameters of disease. Results of this investigation specify for expediency of further studies of molecular genetics aberrations in the VHL gene. Perhaps, it would promote renal cancer molecular markers evaluation, for example, a determination of suppressor genes methylated in renal cancer.
authors.forename: D S
authors.initials: DS
authors.lastname: Mikhaĭlenko
authors.forename: R B
authors.initials: RB
authors.lastname: Kurynin
authors.forename: A M
authors.initials: AM
authors.lastname: Popov
authors.forename: O B
authors.initials: OB
authors.lastname: Kariakin
authors.forename: M E
authors.initials: ME
authors.lastname: Enikeev
authors.forename: Iu G
authors.initials: IuG
authors.lastname: Aliaev
authors.forename: M V
authors.initials: MV
authors.lastname: Nemtsova
authors.forename: D V
authors.initials: DV
authors.lastname: Zaletaev
mesh_terms: D000483:Alleles; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D019175:DNA Methylation; D005260:Female; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D009154:Mutation; D009367:Neoplasm Staging; D018807:Polymorphism, Single-Stranded Conformational; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000096:biosynthesis / Q000235:genetics*
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human