Genotype-phenotype interactions in the estradiol pathway.
Endogenous estrogen is a known risk factor for breast and ovarian cancer and hormonal therapy is widely used in clinical practice. Estrogen is therefore a target for susceptibility and treatment response studies. Genetic variations in the enzymes that determine its levels: CYP17, CYP11a, CYP19, hydroxysteroid hydrogenase, steroid sulphatase, CYP1A1, CYP3A4, CYP1B are likely to modify the risk for breast cancer and treatment with antiestrogens and aromatase inhibitors.
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