. "Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors" . "RIV/61989592:15110/08:00006193!RIV09-MZ0-15110___" . "P(NR9029), R" . . "Clinical Cancer Research" . . "Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors"@en . "[AADF7366F9A6]" . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . . "Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors"@en . "14" . "Mahurkar, Sunil" . "Nickerson L, Michael" . . "15" . "9"^^ . "Janout, Vladim\u00EDr" . "C\u00EDl: poskytnout \u00FAplnou a d\u016Fkladnou anal\u00FDzu somatick\u00FDch mutac\u00ED a promotorov\u00E9 hypermethylace VHL genu v n\u00E1dorov\u00E9m genomu, jedine\u010Dn\u00E9m pro sv\u011Btlobun\u011B\u010Dn\u00FD karcinom z ledvinn\u00FDch bun\u011Bk. Identifikovat vztahy mezi prevalenc\u00ED alteracemi VHL genu a subtypy alterac\u00ED s charakteristikami pacient\u016F a n\u00E1dor\u016F. Studie je navr\u017Eena jako \u010D\u00E1st velk\u00E9 studie p\u0159\u00EDpad\u016F a kontrol karcinomu ledvin proveden\u00E9 ve st\u0159edn\u00ED Evrop\u011B. B\u011Bhem n\u00ED byly analyzov\u00E1ny VHL mutace a methylace promotor\u016F u 205 dob\u0159e charakterizovan\u00FDch , histologicky potvrzen\u00FDch biopsi\u00ED sv\u011Btlobun\u011B\u010Dn\u00FDch karcinom\u016F z ledvinn\u00FDch bun\u011Bk (ccRCC) za pou\u017Eit\u00ED vysoce senzitivn\u00EDch a v\u00FDkonn\u00FDch metod (skenov\u00E1n\u00ED endonukle\u00E1z a Sangerova sekvenov\u00E1n\u00ED) a anal\u00FDzy 11 CpG m\u00EDst ve VHL promotoru. V\u00FDsledky: byly identifikov\u00E1ny mutace u 82,4% p\u0159\u00EDpad\u016F, nejvy\u0161\u0161\u00ED dodnes ud\u00E1van\u00E1 prevalence. Anal\u00FDza 11 promotorov\u00FDch CpG m\u00EDst odhalila, \u017Ee 8,3% n\u00E1dor\u016F bylo hypermethylov\u00E1no a v\u0161echny byly mutace-negativn\u00ED. Dohromady, 91% ccRCC vykazovalo alterace v genu, zp\u016Fsoben\u00E9 a\u0165 ji\u017E genetick\u00FDm nebo epigenetick\u00FDm"@cs . . "VHL; cell renal tumors; mutation; promoter hypermethylation; case control study; Central Europe"@en . . . "RIV/61989592:15110/08:00006193" . "J\u00E4ger, Erich" . "PURPOSE: To provide a comprehensive, thorough analysis of somatic mutation and promoter hypermethylation of the von Hippel-Lindau (VHL) gene in the cancer genome, unique to clear cell renal cancer (ccRCC). Identify relationships between the prevalence of VHL gene alterations and alteration subtypes with patient and tumor characteristics. EXPERIMENTAL DESIGN: As part of a large kidney cancer case-control study conducted in Central Europe, we analyzed VHL mutations and promoter methylation in 205 well-characterized, histologically confirmed patient tumor biopsies using a combination of sensitive, high-throughput methods (endonuclease scanning and Sanger sequencing) and analysis of 11 CpG sites in the VHL promoter. RESULTS: We identified mutations in 82.4% of cases, the highest VHL gene mutation prevalence reported to date. Analysis of 11 VHL promoter CpG sites revealed that 8.3% of tumors were hypermethylated and all were mutation negative. In total, 91% of ccRCCs exhibited alteration of the gene throug" . . . "Vylep\u0161en\u00E1 identifikace alterac\u00ED vhl genu u sv\u011Btlobun\u011B\u010Dn\u00E9ho karcinomu z ledvinn\u00FDch bun\u011Bk"@cs . "371693" . "2"^^ . "9"^^ . . "Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors" . "PURPOSE: To provide a comprehensive, thorough analysis of somatic mutation and promoter hypermethylation of the von Hippel-Lindau (VHL) gene in the cancer genome, unique to clear cell renal cancer (ccRCC). Identify relationships between the prevalence of VHL gene alterations and alteration subtypes with patient and tumor characteristics. EXPERIMENTAL DESIGN: As part of a large kidney cancer case-control study conducted in Central Europe, we analyzed VHL mutations and promoter methylation in 205 well-characterized, histologically confirmed patient tumor biopsies using a combination of sensitive, high-throughput methods (endonuclease scanning and Sanger sequencing) and analysis of 11 CpG sites in the VHL promoter. RESULTS: We identified mutations in 82.4% of cases, the highest VHL gene mutation prevalence reported to date. Analysis of 11 VHL promoter CpG sites revealed that 8.3% of tumors were hypermethylated and all were mutation negative. In total, 91% of ccRCCs exhibited alteration of the gene throug"@en . "Shi, Yangu" . . "Vylep\u0161en\u00E1 identifikace alterac\u00ED vhl genu u sv\u011Btlobun\u011B\u010Dn\u00E9ho karcinomu z ledvinn\u00FDch bun\u011Bk"@cs . "Zaridze, David" . . "Matveev, Vsevolod" . "Durocher A, Jeffrey" . "Koll\u00E1rov\u00E1, Helena" . . "15110" . . . . . . . "1078-0432" .