Genetic polymorphisms, the metabolism of estrogens and breast cancer: a review

Eur J Gynaecol Oncol. 2008;29(4):313-20.


Breast cancer is the most common female cancer and the second cause of cancer death in women. Despite recent breakthroughs, much of the etiology of this disease is unknown and the most important risk factor, i.e., exposure to endogenous and exogenous estrogen throughout life cannot explain the heterogeneity of prognosis nor clinical features of patients. Recently, many gene polymorphisms in the metabolism of breast cancer have been described as possible neoplasm etiologic factors. This review is an attempt to summarize the current knowledge about these polymorphisms and to determine new target genes for diagnosis and treatment of the disease. Polymorphisms in the genes CYP17, CYP19, CYP1A1, CYP1A2, CYP1B1, UGT1A1, SULT1A1, 17-hydroxysteroid-dehydrogenase, COMT, GST, ESR1, and ESR2 are described.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / etiology
  • Breast Neoplasms / genetics*
  • Enzymes / genetics
  • Enzymes / metabolism
  • Estrogens / metabolism*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Polymorphism, Genetic / genetics*
  • Risk Factors


  • Enzymes
  • Estrogens