Mutational analysis of PINX1 in hereditary prostate cancer.
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.
Hawkins
Gregory A
GA
Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
Chang
Bao-Li
BL
Zheng
S Lilly
SL
Isaacs
Sarah D
SD
Wiley
Kathleen E
KE
Bleecker
Eugene R
ER
Walsh
Patrick C
PC
Meyers
Deborah A
DA
Xu
Jianfeng
J
Isaacs
William B
WB
D018797:Cell Cycle Proteins; D002898:Chromosomes, Human, Pair 8; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011471:Prostatic Neoplasms / Q000235:genetics*; D012307:Risk Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D018797:Cell Cycle Proteins; C440808:PINX1 protein, human; D025521:Tumor Suppressor Proteins