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 | - | - |