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Table 1 Characteristics of the studied gene polymorphisms

From: Polymorphisms in Phase I and Phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case–control study in Inuit women

Gene Position Reference SNP Location/amino acid change Genotyping method Main function Activity
Low High
CYP1A1 15q24.1 rs1048943 A> C C_25624888_50# Carcinogen activation Ile (wt) Val (var)
Ile462Val 2-hydroxylation of E2
CYP1B1 2p22.2 rs1056836 C> G Leu432val C_3099976_30# Carcinogen activation Leu (wt) Vala (var)
4-hydroxylation of E2
COMT 22q11.21 rs4680 G> A C_25746809_50# Estradiol catabolism Met (mut) Val (var)
Val158Met
CYP17A1 10q24.3 rs743572 5′UTR C_2852784_30# Steroid 17α-hydroxylase   A2b
−34 T> C (A1> A2)
CYP19A1 15q21.1 rs10046 3′UTR C_8234731_30# Aromatase activity (androgen to estrogen)   Tc (var)
C> T
CYP19A1 15q21.1 - (TTTA)n repeats PCR-based Aromatase activity - -
BRCA1 17q21 rs80357164 Cys39Gly PCR-based DNA damage repair - -
  1. wt: wild-type; var: variant.
  2. #TaqMan Drug Metabolism Genotyping Assay.
  3. a432Val variant has the higher 17β-estradiol hydroxylation activity, but lower carcinogenic activity [14].
  4. bA2 is postulated to correlate with higher serum levels of various sex steroids [22, 24, 25].
  5. cVariant alleles T has been associated with higher levels of postmenopausal circulating E2 [27].