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Mutational analysis of PINX1 in hereditary prostate cancer

Gregory A Hawkins¹, Bao-Li Chang, S Lilly Zheng

¹Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.

|July 21, 2004

Abstract

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.

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