Mutational analysis of PINX1 in hereditary prostate cancer

Gregory A. Hawkins, Bao Li Chang, S. Lilly Zheng, Sarah D. Isaacs, Kathleen E. Wiley, Eugene R. Bleecker, Patrick C. Walsh, Deborah A. Meyers, Jianfeng Xu, William B. Isaacs

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)298-302
Number of pages5
Issue number4
StatePublished - Sep 1 2004
Externally publishedYes


  • PinX1
  • Polymorphisms
  • Prostate cancer
  • Telomerase

ASJC Scopus subject areas

  • Oncology
  • Urology


Dive into the research topics of 'Mutational analysis of PINX1 in hereditary prostate cancer'. Together they form a unique fingerprint.

Cite this