CYP17 promotor polymorphism and ovarian cancer risk

The CYP17 gene encodes the cytochrome P450c17alpha enzyme, which functions at 2 different points in the steroid biosynthesis pathway, and is considered a candidate susceptibility gene for endocrine-related tumors. A T to C substitution polymorphism exists in the 5' promoter region of this gene, and creates an additional Sp1-type motif. Several studies have examined this polymorphism as a risk factor for breast cancer, but results have been conflicting. We examined 319 cases of ovarian cancer and 298 unaffected controls for the T-C polymorphism. There was no significant difference between cases and controls for the allele frequencies (p = 0.6), or for genotype distribution (p = 0.9). The odds ratio (95% confidence interval) for ovarian cancer was 1.13 (0.70-1.82) for the putative "cancer susceptibility" CC genotype and 1.07 (0.77-1.48) for any C allele (CC or CT genotype). Results were little different after adjustment for age. Stratification of the ovarian cancer cases according to form (benign, low malignant potential or invasive), histology, grade or stage failed to reveal any heterogeneity with respect to CYP17 genotype. Our data provide no evidence for an association between ovarian cancer risk and the genotype defined by the CYP17 5' promoter region T-C polymorphism.