title: Absence of mutations in the VHL gene but frequent loss of heterozygosity at 3p25-26 in non-small cell lung carcinomas.
abstract: In this study we have examined 79 primary non-small cell lung tumours for the presence of mutations of the VHL gene as well as for allelic imbalance at the gene surrounding loci. While allelic imbalance was found in 83% of specimens, frequently affecting the whole 3p25-p26 region, no mutations were detected in the VHL coding region. The fractional regional loss (FRL) was significantly higher in squamous cell carcinomas (0.746) than adenocarcinomas (0.493) (Wilcoxon P=0.002). This is the first investigation of the VHL gene mutational status in primary lung tumours. Our results indicate that mutation is not a common means of VHL inactivation in NSCLC.
authors.affiliation: Roy Castle International Centre for Lung Cancer Research, Liverpool, L3 9TA, UK.
authors.forename: S
authors.initials: S
authors.lastname: Miyakis
authors.forename: T
authors.initials: T
authors.lastname: Liloglou
authors.forename: S
authors.initials: S
authors.lastname: Kearney
authors.forename: G
authors.initials: G
authors.lastname: Xinarianos
authors.forename: D A
authors.initials: DA
authors.lastname: Spandidos
authors.forename: J K
authors.initials: JK
authors.lastname: Field
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D000368:Aged; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3; D004252:DNA Mutational Analysis; D016147:Genes, Tumor Suppressor; D006801:Humans; D008025:Ligases / Q000032:analysis / Q000235:genetics*; D019656:Loss of Heterozygosity; D008175:Lung Neoplasms / Q000235:genetics*; D008875:Middle Aged; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease
chemical_list: D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human