title: Is predisposition for nephroblastoma linked to polymorphisms of the WTX gene?
abstract: Inactivation of Wilms tumor X (WTX) gene has been linked to the pathogenesis of a varying percentage of nephroblastomas. In contrast, germline mutations of WTX were identified to cause bone dysplasia, but not to induce the development of nephroblastomas. In our study we investigated whether tumor promotion of nephroblastoma by inactivation of WTX gene is linked to certain single nucleotide polymorphisms (SNPs). Therefore 8 SNPs-distributed over the whole length of the WTX gene-were investigated by high resolution melting curve analysis (HRMA) and sequencing of genomic DNA from nephroblastoma patients (NB) and controls. No difference was detected in the 8 SNPs investigated, which were distributed over the whole length of the gene. Additionally, sequence analysis of the coding part of the WTX gene of the tumor samples revealed no chromosomal aberration. Our study indicates, that inactivation of WTX appears to be a late event in tumorigenesis of nephroblastoma in a subgroup of nephroblastomas.
authors.affiliation: Institute of Pathology, Medical University of Graz, Auenbruggerplatz 25, A-8036, Graz, Austria. barbara.guertl-lackner@klinikum-graz.at
authors.forename: Barbara
authors.initials: B
authors.lastname: Guertl
authors.forename: Ivo
authors.initials: I
authors.lastname: Leuschner
authors.forename: Christian
authors.initials: C
authors.lastname: Guelly
authors.forename: Birgit
authors.initials: B
authors.lastname: Ebner
authors.forename: Cornelia
authors.initials: C
authors.lastname: Kronberger
authors.forename: Gerald
authors.initials: G
authors.lastname: Hoefler
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D005260:Female; D020868:Gene Silencing; D016162:Genes, Wilms Tumor; D020022:Genetic Predisposition to Disease; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D009396:Wilms Tumor / Q000235:genetics*
chemical_list: C517118:AMER1 protein, human; D048868:Adaptor Proteins, Signal Transducing; D025521:Tumor Suppressor Proteins