HFE, MTHFR, and FGFR4 genes polymorphisms and breast cancer in Brazilian women

Mol Cell Biochem. 2011 Nov;357(1-2):247-53. doi: 10.1007/s11010-011-0895-1. Epub 2011 May 28.


Genetic factors related to cancer have been extensively studied and several polymorphisms have been associated to breast cancer. The FGFR4, MTHFR, and HFE genes have been associated with neoplastic diseases development. The current report outlines the analysis of the polymorphisms G388A (FGFR4), C677T (MTHFR), C282Y, and H63D (HFE) in Brazilian breast cancer patients. We studied 68 patients with invasive ductal and operable breast carcinoma and 85 women as a control group. The polymorphism frequencies in the breast cancer and control groups were analyzed, but no significant difference was observed by comparing the two groups. The presence of each polymorphism was analyzed according to the clinical features and markers already established as prognostic in the breast cancer group. The C677T, H63D, and G388A polymorphisms were not associated to histological grade, age of diagnosis, expression of HER2 receptor, or estrogen and progesterone receptor. The H63D polymorphism showed a significant association (P = 0.02) with the presence of p53 mutations, and C667T showed association to lymph node involvement (P = 0.05). Lymph node involvement, G388A polymorphism, and histological grade were independently associated to metastasis/death. Our data suggests that the polymorphisms G388A, C677T, and H63D are not useful in breast cancer diagnosis, but they may be significant additional prognostic markers related to breast cancer survival.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brazil
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Female
  • Genetic Association Studies
  • Hemochromatosis Protein
  • Heterozygote
  • Histocompatibility Antigens Class I / genetics*
  • Homozygote
  • Humans
  • Membrane Proteins / genetics*
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Middle Aged
  • Neoplasm Staging
  • Polymorphism, Genetic
  • Prognosis
  • Receptor, ErbB-2 / analysis
  • Receptor, Fibroblast Growth Factor, Type 4 / genetics*
  • Receptors, Estrogen / analysis
  • Receptors, Progesterone / analysis
  • Survival Analysis


  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Receptors, Estrogen
  • Receptors, Progesterone
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • ERBB2 protein, human
  • FGFR4 protein, human
  • Receptor, ErbB-2
  • Receptor, Fibroblast Growth Factor, Type 4