The involvement of the
CYP11A1 gene in the synthesis of
androgens makes it a compelling candidate for various
hormone-dependent diseases, including
prostate cancer. A microsatellite polymorphism (TTTTA)n in the promoter region of the
CYP11A1 gene has been reported to be associated with an increased risk of metastatic and high-grade
prostate cancer. In the present study of 110
prostate cancer patients and 96 population controls, we examined the association between the
CYP11A1 (TTTTA)n polymorphism and
prostate cancer risk, aggressiveness, and incidence of biochemical relapse after
prostatectomy. We have also evaluated the potential of the (TTTTA)n polymorphism as a microsatellite marker for the detection of
genomic instability in
prostate cancer. A strong association of the genotype containing the (TTTTA)6 allele with the occurrence of biochemical relapse after
prostatectomy in patients with organ confined
prostate cancer (p<0.0001), as well as in patients with low-grade
prostate cancer (p=0.002) or both (p<0.0003) was determined. The incidence of biochemical relapse in patients with organ confined and low-grade
prostate cancer in our study group was 22%, but increased to 50% in carriers of the (TTTTA)6 allele. Our findings also suggest (TTTTA)n instability as a potential marker for the detection of early events in
carcinogenesis.