title: Polymorphic insertion of additional repeat within an area of direct 8 bp tandem repeats in the 5'-untranslated region of the p53R2 gene and cancer risk.
abstract: p53R2 is a recently cloned gene that functions in p53-induced DNA repair. In the 5'-untranslated region of the p53R2 gene two direct tandem 8 bp repeats are located. Within the region of these 8 bp direct repeats we have detected the insertion of an additional repeat. In order to determine a possible association of this novel polymorphism with any cancer or population, we carried out genotyping of 843 European and Asian controls and patients with various cancer types. In addition, 26 cancer cell lines were included in the study. No significant difference in polymorphic frequency could be demonstrated for any of the cancer types, although the allelic frequency in melanoma patients was lower than in controls (chi(2) = 3.28; P = 0.07; OR = 0.32; 95% CI 0.07-1.26). A significantly higher frequency of the polymorphism was detected in the compiled Caucasian individuals compared with Asians (chi(2) = 9.19; P = 0.002; OR = 3.13; 95% CI 1.39-7.43). In one tumour cell line we observed two extra inserted copies of the 8 bp repeat. The functional effect of the insertion polymorphism on the p53R2 gene transcription remains to be determined.
authors.affiliation: Department of Biosciences, Karolinska Institute, Novum, 141 57 Huddinge, Sweden. johanna.smeds@cnt.ki.se
authors.forename: J
authors.initials: J
authors.lastname: Smeds
authors.forename: R
authors.initials: R
authors.lastname: Kumar
authors.forename: K
authors.initials: K
authors.lastname: Hemminki
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D018797:Cell Cycle Proteins; D016158:Genes, p53 / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D016254:Mutagenesis, Insertional / Q000235:genetics*; D009369:Neoplasms / Q000209:etiology / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012264:Ribonucleotide Reductases / Q000235:genetics*; D012307:Risk Factors; D020080:Tandem Repeat Sequences / Q000235:genetics*; D014407:Tumor Cells, Cultured; D044465:White People / Q000235:genetics
chemical_list: D020121:5' Untranslated Regions; D018797:Cell Cycle Proteins; C405947:RRM2B protein, human; D012264:Ribonucleotide Reductases