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.
Figure. The relationship between the oestrogens found in tissues and in circulation and transcriptional activation by the ER-ERE-Complex, mechanisms of acquired resistance to aromatase inhibitors and antiestrogens.
(click to enlarge)
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