Ewing Sarcoma: influence of TP53 Arg72Pro and MDM2 T309G SNPs

• Published in: Molecular biology reports Vol. 40; no. 8; pp. 4929 - 4934
• Main Authors: Thurow, Helena S., Hartwig, Fernando P., Alho, Clarice S., Silva, Deborah S. B. S., Roesler, Rafael, Abujamra, Ana Lucia, de Farias, Caroline Brunetto, Brunetto, Algemir Lunardi, Horta, Bernardo L., Dellagostin, Odir A., Collares, Tiago, Seixas, Fabiana K.
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01-08-2013; Springer Nature B.V
• Subjects: Amino Acid Substitution - genetics; Animal Anatomy; Animal Biochemistry; Biomedical and Life Sciences; Bone cancer; Brazil; Case-Control Studies; Genetic Association Studies; Genetic Predisposition to Disease - genetics; Genotype; Genotype & phenotype; Histology; Humans; Life Sciences; Logistic Models; Molecular biology; Morphology; Polymerase Chain Reaction; Polymorphism; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide - genetics; Proto-Oncogene Proteins c-mdm2 - genetics; Sarcoma, Ewing - genetics; Sequence Analysis, DNA; Tumor Suppressor Protein p53 - genetics; Arg72Pro; T309G; MDM2; Ewing Sarcoma; TP53
• ISSN: 0301-4851; 1573-4978
• DOI: 10.1007/s11033-013-2593-4

The Ewing Sarcoma is an important tumor of bone and soft tissue. The SNPs Arg72Pro of
TP53
and T309G of
MDM2
have been associated with many cancer types and have been differently distributed among populations worldwide. Based on a case–control design, this study aimed to assess the role of these SNPs in 24 Ewing Sarcoma patients, compared to 91 control individuals. DNA samples were extracted from blood and genotyped for both SNPs by PCR–RFLP and confirmed by DNA sequencing. The results showed an association between the G allele of the T309G and Ewing Sarcoma (
P
 = 0.02). Comparing to the TT carriers, the risk of G allele carriers was 3.35 (95 % CI = 1.22–9.21) with
P
 = 0.02. At the genotypic level, an association of the TT genotype with the control group (
P
 = 0.03) was found. Comparing to the TT genotype, the risk of TG and GG was 2.97 (95 % CI = 1.03–8.58) with
P
 = 0.04 and 5.00 (95 % CI = 1.23–20.34) with
P
 = 0.02, respectively. No associations regarding the Arg72Pro SNP were found. Considering that the T309G has been associated with several types of cancer, including sarcomas, our results indicate that this SNP may also be important to Ewing Sarcoma predisposition.