title: Ewing's sarcoma: analysis of single nucleotide polymorphism in the EWS gene.
abstract: We aimed to investigate single nucleotide polymorphisms (SNPs) in the EWS gene breaking region in order to analyze Ewing's sarcoma susceptibility. The SNPs were investigated in a healthy subject population and in Ewing's sarcoma patients from Southern Brazil. Genotyping was performed by TaqMan® assay for allelic discrimination using Real-Time PCR. The analysis of incidence of SNPs or different SNP-arrangements revealed a higher presence of homozygote TT-rs4820804 in Ewing's sarcoma patients (p=0.02; Chi Square Test). About 300 bp from the rs4820804 SNP lies a palindromic hexamer (5'-GCTAGC-3') and three nucleotides (GTC), which were previously identified to be in close vicinity of the breakpoint junction in both EWS and FLI1 genes. This DNA segment surrounding the rs4820804 SNP is likely to indicate a breakpoint region. If the T-rs4820804 allele predisposes a DNA fragment to breakage, homozygotes (TT-rs4820804) would have double the chance of having a chromosome break, increasing the chances for a translocation to occur. In conclusion, the TT-rs4820804 EWS genotype can be associated with Ewing's sarcoma and the SNP rs4820804 can be a candidate marker to understand Ewing's sarcoma susceptibility.
authors.affiliation: Laboratory of Molecular and Human Genetics, Faculty of Biosciences, PUCRS, 90619-900, Porto Alegre, RS, Brazil.
authors.forename: Deborah S B S
authors.initials: DS
authors.lastname: Silva
authors.forename: Fernanda R
authors.initials: FR
authors.lastname: Sawitzki
authors.forename: Elisa C
authors.initials: EC
authors.lastname: De Toni
authors.forename: Pietra
authors.initials: P
authors.lastname: Graebin
authors.forename: Juliane B
authors.initials: JB
authors.lastname: Picanco
authors.forename: Ana Lucia
authors.initials: AL
authors.lastname: Abujamra
authors.forename: Caroline B
authors.initials: CB
authors.lastname: de Farias
authors.forename: Rafael
authors.initials: R
authors.lastname: Roesler
authors.forename: Algemir L
authors.initials: AL
authors.lastname: Brunetto
authors.forename: Clarice S
authors.initials: CS
authors.lastname: Alho
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D001859:Bone Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D034802:RNA-Binding Protein EWS / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D012512:Sarcoma, Ewing / Q000235:genetics*; D055815:Young Adult
chemical_list: D004273:DNA, Neoplasm; D034802:RNA-Binding Protein EWS