title: Genetic polymorphisms in the catechol estrogen metabolism pathway and breast cancer risk.
abstract: BACKGROUND
  This study investigated whether single nucleotide polymorphisms (SNP) in genes within the catechol estrogen metabolism pathway altered the risk of breast cancer alone or in combination, as well as whether menopausal hormone therapy modified the effect of these SNPs on breast cancer risk.
  
  
  METHODS
  In a population-based case-control study of breast cancer, 891 cases and 878 controls were genotyped for six functional SNPs in the COMT, CYP1B1, GSTM1, GSTP1, and GSTT1 genes.
  
  
  RESULTS
  Women homozygous with the T allele in CYP1B1*2 (Ser(119); rs1056827) were at 1.69 (95% confidence interval, 1.17-2.46) times the risk of women homozygous with the G allele; women homozygous with the G allele in GSTP1 (Val(105); rs1695) were at 0.73 (95% confidence interval, 0.54-0.99) times the risk of breast cancer compared with women homozygous with the A allele. No other SNPs tested were associated with breast cancer to any appreciable degree. Potential gene-gene and gene-hormone therapy interactions were investigated.
  
  
  CONCLUSIONS
  With the exception of GSTP1 and possibly CYP1B1*2, our findings do not provide support for the role of genetic variation in the catechol estrogen metabolism pathway and breast cancer risk in postmenopausal women.
authors.affiliation: University of Washington, Seattle, WA 98109, USA. kreding@u.washington.edu
authors.forename: Kerryn W
authors.initials: KW
authors.lastname: Reding
authors.forename: Noel S
authors.initials: NS
authors.lastname: Weiss
authors.forename: Chu
authors.initials: C
authors.lastname: Chen
authors.forename: Christopher I
authors.initials: CI
authors.lastname: Li
authors.forename: Christopher S
authors.initials: CS
authors.lastname: Carlson
authors.forename: Hui-Wen
authors.initials: HW
authors.lastname: Wilkerson
authors.forename: Federico M
authors.initials: FM
authors.lastname: Farin
authors.forename: Kenneth E
authors.initials: KE
authors.lastname: Thummel
authors.forename: Janet R
authors.initials: JR
authors.lastname: Daling
authors.forename: Kathleen E
authors.initials: KE
authors.lastname: Malone
mesh_terms: D000368:Aged; D000483:Alleles; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D002394:Catechol O-Methyltransferase / Q000235:genetics; D065633:Cytochrome P-450 CYP1B1; D002393:Estrogens, Catechol / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D051549:Glutathione S-Transferase pi / Q000235:genetics; D005982:Glutathione Transferase / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D017698:Postmenopause; D012306:Risk; D018426:SEER Program; D014861:Washington / Q000453:epidemiology
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; D002394:Catechol O-Methyltransferase; D065633:Cytochrome P-450 CYP1B1; D002393:Estrogens, Catechol; D051549:Glutathione S-Transferase pi; D005982:Glutathione Transferase; C585496:CYP1B1 protein, human; C413545:glutathione S-transferase T1; C496556:GSTP1 protein, human