Novel polymorphisms of prostate-specific antigen (PSA) gene associated with PSA mRNA expression in breast cancer

A growing body of evidence suggests that prostate-specific antigen (PSA) is a novel prognostic factor for breast cancer. The molecular mechanism of va riant PSA expression in breast cancer has remained poorly understood in spi te of intensive research. Previous studies have shown that the coding regio n of the PSA gene is not a target for mutations in prostate: cancer and bre ast cancer. The purpose of this: study was to analyze genetic variations in the promoter region of the PSA gene, and to detect whether such variations are correlated with PSA mRNA expression in breast tumors. We identified tw o polymorphisms in the proximal promoter legion of the PSA gene. These poly morphisms al-e located at positions -252 (G or A) and -205 (A or AA), and g enerate three genotypes. The genotypes were associated with PSA mRNA expres sion. Our findings suggest that these polymorphisms identified in the proxi mal promoter region may affect the transcriptional activity of PSA.