Research of single nucleotide polymorphisms found in MDM2 and p53 genes in p53 pathway on patients with breast cancer

Breast cancer is the most common female malignancy worldwide. Despite the high incidence of sporadic cases, the rate of familial breast cancer is low. The tumor suppressor gene TP53 (alias p53), located on chromosome 17, has been involved in various malignancies. A novel polymorphism in the promoter region of MDM2 was associated with cancers. Polymorphisms in codon 72 of TP53 and MDM2 SNP 309 have been studied in breast cancer. For study of polymorphisms and allele frequency, 75 female patients with breast cancer and 75 healthy blood donors as control group were recruited. DNA from peripheral blood mononuclear cells was extracted and amplified using RFLP based polymerase chain reaction. Frequency of homozygotic arginine at codon 72 was %38,7 in patients and %45,3 in controls, for homozygotic proline it was %13,3 and %12, and for heterozygotic Arg/Pro it was %48 and % 42,7, respectively. No significant difference was found between patients and controls regarding allele frequencies. Polymorphism in codon 72 of TP53 gene was not associated with breast cancer in Turkish patients. Frequency of homozygotic GG at SNP309 was %28 in patients and %20 in controls, for homozygotic TT it was %20 and %26,7, and for heterozygotic T/G it was %52 and %53,3, respectively. No significant difference was found between patients and controls regarding allele frequencies. Polymorphism in SNP309 MDM2 gene and was not associated with breast cancer in Turkish patients.Key words: Breast cancer, Polymorphism,TP53, Codon 72, MDM2, SNP309, , PCR, Restriction Fragment length polymorphism (RFLP).