Mutational analysis of PINX1 in hereditary prostate cancer

Prostate. 2004 Sep 1;60(4):298-302. doi: 10.1002/pros.20075.


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 (Gln50His, Leu91Met, Gln206His, Arg215Ile, Thr220Ala, Ser254Cys, and Glu414Ala) 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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosomes, Human, Pair 8*
  • DNA Mutational Analysis
  • Genotype
  • Humans
  • Loss of Heterozygosity
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Prostatic Neoplasms / genetics*
  • Risk Factors
  • Tumor Suppressor Proteins / genetics*


  • PINX1 protein, human
  • Tumor Suppressor Proteins