Germ-line MTHFR C677T, FV H1299R and PAI-1 5G/4G Variations in Breast Carcinoma

  • Ozen, Filiz (Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University) ;
  • Erdis, Eda (Department of General Surgery, Faculty of Medicine, Cumhuriyet University) ;
  • Sik, Ebru (Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University) ;
  • Silan, Fatma (Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University) ;
  • Uludag, Ahmet (Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University) ;
  • Ozdemir, Ozturk (Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University)
  • Published : 2013.05.30


Background: Various oncogenes related to cancer have been extensively studied and several polymorphisms have been found to be associated with breast cancer. The current report outlines analysis of germ-line polymorphisms for C677T, A1298C (MTHFR), Leiden, R2 (FV) and 5G/4G (PAI-1) in Turkish breast cancer patients. We studied 51 cases diagnosed with invasive ductal and operable with lymph node-positive breast cancer and 106 women as a control group. Materials and Methods: Peripheric blood-DNA samples were used for genotyping by StripAssay technique which is based on the reverse-hybridization principle and real-time PCR methods and results were compared statistically. Results: The frequency of the MTHFR gene 677T and 1298A alleles were significantly higher in cancer patients than in the healthy subjects. The T allele frequency in codon 677 was 2.3-fold and C allele frequency was 3.1-fold increased in BC when compared to the control group for the MTHFR gene. Both differences were statistically significant (OR: 2.295, CI: 1.283-4.106), p<0.006 and (OR: 3.131, CI:1.826-5.369), p<0.0001 respectively. The R2 allele frequency of FV gene was 5.1-fold increased in the current BC when compared to the control group and that difference was also statistically significant (OR: 5.133, CI: 1.299-20.28), p<0.02. Conclusions: The present data suggest that germ-line polymorphisms of C677T, C1298A for MTHFR and R2 for FV are associated in breast cancer and may be additional prognostic markers related to breast cancer survival. The results now need to be confirmed in a larger group of patients.


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