title: TP53 codon 72 polymorphisms in favorable histology Wilms tumors.
abstract: In Wilms tumor (WT), mutations in the gene encoding p53, TP53, are correlated with anaplasia; however TP53 variants have not been studied in favorable histology (FH) WTs. A single nucleotide polymorphism of TP53 encoding either arginine or proline at codon 72 is suggested to alter in vitro p53 behavior. Therefore, we analyzed tissue from 23 consecutive patients with FHWT to determine allelic and genotypic frequencies of Pro72 and Arg72 variants and correlate this with clinical outcomes. Interestingly, our cohort showed a statistically significant over-representation of the Arg allele and Arg/Arg genotype. However, the genotypic and allelic frequencies showed no significant correlation with age, stage, or disease recurrence.
authors: Division of Pediatric Urology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA. nicholas.cost@sbcglobal.net
authors: Nicholas G
authors: NG
authors: Cost
authors: Midori
authors: M
authors: Mitui
authors: Shama
authors: S
authors: Khokhar
authors: Jonathan E
authors: JE
authors: Wickiser
authors: Linda A
authors: LA
authors: Baker
authors: Dinesh
authors: D
authors: Rakheja
mesh_terms: D000483:Alleles; D001120:Arginine / Q000235:genetics*; D001859:Bone Neoplasms / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000473:pathology; D009367:Neoplasm Staging; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011392:Proline / Q000235:genetics*; D012189:Retrospective Studies; D012307:Risk Factors; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D009396:Wilms Tumor / Q000235:genetics* / Q000473:pathology
chemical_list: D003062:Codon; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; D001120:Arginine; D011392:Proline