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

Abstract

<b>Background:</b> Various oncogenes related to cancer have been extensively studied and several polymorphismshave been found to be associated with breast cancer. The current report outlines analysis of germ-linepolymorphisms for C677T, A1298C (MTHFR), Leiden, R2 (FV) and 5G/4G (PAI-1) in Turkish breast cancerpatients. We studied 51 cases diagnosed with invasive ductal and operable with lymph node-positive breastcancer and 106 women as a control group. Materials and <br/><b>Methods</b>: Peripheric blood-DNA samples were usedfor genotyping by StripAssay technique which is based on the reverse-hybridization principle and real-timePCR methods and results were compared statistically. <br/><b>Results</b>: The frequency of the MTHFR gene 677T and1298A alleles were significantly higher in cancer patients than in the healthy subjects. The T allele frequency incodon 677 was 2.3-fold and C allele frequency was 3.1-fold increased in BC when compared to the control groupfor 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 increasedin 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. <br/><b>Conclusions</b>: 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 markersrelated to breast cancer survival. The results now need to be confirmed in a larger group of patients.