title: Mutations/polymorphisms in the 55 kDa subunit of DNA polymerase epsilon in human colorectal cancer.
abstract: BACKGROUND
  Defects of some DNA polymerases have shown associations with cancer, but data on DNA polymerase epsilon are limited. This study investigated mutations in the 55 kDa subunit gene of DNA polymerase epsilon in colorectal cancer.
  
  
  METHODS
  DNA from 16 human colorectal cancer and 9 control samples was studied with polymerase chain reaction-single-strand comformation polymorphism analysis and DNA sequencing.
  
  
  RESULTS
  DNA polymerase epsilon gene alterations were identified in 5 out of the 16 cases (31.2%). Two samples showed a T-C transition at exon 17 (potential tyrosine to histidine substitution), and an A-G transition at intron 7; one sample showed an A-G transition at intron 8. An AATT deletion was observed at intron 18 in 3 out of the 16 colon cancer cases (grades 2, 3, and 2, and Dukes' classes C, D, and C, respectively).
  
  
  CONCLUSIONS
  Because the AATT deletion has also been found in breast cancer, the region may be a mutation hot spot, possibly involved in the carcinogenetic path in advanced colorectal cancer.
authors.affiliation: Department of Pathology, University of Turku, FIN-20520 Turku, Finland.
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhou
authors.forename: Kati
authors.initials: K
authors.lastname: Talvinen
authors.forename: Jari
authors.initials: J
authors.lastname: Sundström
authors.forename: Adem
authors.initials: A
authors.lastname: Elzagheid
authors.forename: Helmut
authors.initials: H
authors.lastname: Pospiech
authors.forename: Juhani E
authors.initials: JE
authors.lastname: Syväoja
authors.forename: Yrjö
authors.initials: Y
authors.lastname: Collan
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology; D004257:DNA Polymerase II / Q000235:genetics*; D005091:Exons; D006801:Humans; D007438:Introns; D009154:Mutation; D009367:Neoplasm Staging; D000075223:Poly-ADP-Ribose Binding Proteins; D011110:Polymorphism, Genetic; D021122:Protein Subunits / Q000235:genetics
chemical_list: D000075223:Poly-ADP-Ribose Binding Proteins; D021122:Protein Subunits; D004257:DNA Polymerase II; C119525:POLE protein, human