Mutational analysis of PINX1 in hereditary prostate cancer

BACKGROUND. Telomerase activity is increased in most tumors. PinX1 has recently been identified as a critical component in regulating telomerase activity. The PinX1 gene is located within chromosomal region 8p22-23, a region associated with LOH and potentially linked to increased prostate cancer risk. METHODS. PINX1 was re-sequenced in 159 hereditary prostate cancer (HPC) probands. Four non-synonymous coding variants were genotyped in 159 HPC families. RESULTS. Thirty-nine polymorphisms were identified in the HPC screening panel. Ten coding polymorphisms were identified, seven (Gln ⁵⁰His, Leu⁹¹Met, Gln²⁰⁶His, Arg ²¹⁵Ile, Thr²²⁰Ala, Ser²⁵⁴Cys, and Glu ⁴¹⁴Ala) of which were non-synonymous. The most common variants Thr²²⁰Ala and Ser²⁵⁴Cys were not significantly over-transmitted from affected parent to affected offspring. CONCLUSIONS. Based on these results, we conclude that PINX1 is not a major factor for HPC risk.