Polymorphic variation in CYP19 and the risk of breast cancer

Carcinogenesis. 2001 Feb;22(2):347-9. doi: 10.1093/carcin/22.2.347.

Abstract

The production of estrogen from androgen via the estrogen biosynthesis pathway is catalyzed by aromatase P450 (cyp19). We have assessed the frequency of allelic variants of the CYP19 intron 4 [TTTA]n repeat in 327 breast cancer cases and 253 controls from southern England. Previous studies have suggested that the [TTTA](10) repeat and [TTTA](12) repeat variants represent low penetrance breast cancer susceptibility alleles. Compared with controls our breast cancer cases had a statistically significant positive association with the [TTTA](10) allele (1.5 versus 0.2%, P = 0.028) and the [TTTA](8) allele (13.5 versus 8.7%, P = 0.012). The frequency of the [TTTA](12) allele was not significantly elevated in our study group compared with controls (2.3 versus 2.2%, P = 1.00). The CYP19 intron 4 [TTTA]n repeat is unlikely to have a functional effect on aromatase activity and it is more likely that the [TTTA](8) and [TTTA](10) variants are in linkage disequilibrium with other functional CYP19 variants.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aromatase / genetics*
  • Breast Neoplasms / etiology
  • Breast Neoplasms / genetics*
  • DNA / analysis
  • Female
  • Gene Frequency
  • Genetic Variation
  • Genotype
  • Humans
  • Introns / genetics
  • Lymphocytes
  • Middle Aged
  • Polymorphism, Genetic / genetics*
  • Risk Factors*

Substances

  • DNA
  • Aromatase