Mutational analysis of PINX1 in hereditary prostate cancer

GA Hawkins, BL Chang, SL Zheng, SD Isaacs… - The …, 2004 - Wiley Online Library
GA Hawkins, BL Chang, SL Zheng, SD Isaacs, KE Wiley, ER Bleecker, PC Walsh…
The Prostate, 2004•Wiley Online Library
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 …
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. © 2004 Wiley‐Liss, Inc.
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