Patrick Walsh

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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 (Profiled Authors: William Isaacs; Patrick Walsh)

Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
The Prostate 2004;60(4):298-302.

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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