title: Mutational analysis of PINX1 in hereditary prostate cancer.
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.
authors.affiliation: Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
authors.forename: Gregory A
authors.initials: GA
authors.lastname: Hawkins
authors.forename: Bao-Li
authors.initials: BL
authors.lastname: Chang
authors.forename: S Lilly
authors.initials: SL
authors.lastname: Zheng
authors.forename: Sarah D
authors.initials: SD
authors.lastname: Isaacs
authors.forename: Kathleen E
authors.initials: KE
authors.lastname: Wiley
authors.forename: Eugene R
authors.initials: ER
authors.lastname: Bleecker
authors.forename: Patrick C
authors.initials: PC
authors.lastname: Walsh
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Meyers
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Xu
authors.forename: William B
authors.initials: WB
authors.lastname: Isaacs
mesh_terms: 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*
chemical_list: D018797:Cell Cycle Proteins; C440808:PINX1 protein, human; D025521:Tumor Suppressor Proteins