title: The CHEK2 1100delC variant in Swedish colorectal cancer.
abstract: BACKGROUND
  The cell cycle checkpoint kinase 2 (CHEK2) 1100delC variant has recently been identified at high frequency in families with both breast and colorectal cancer, suggesting the possible role of this variant in colorectal cancer predisposition.
  
  
  METHODS
  To evaluate the role of CHEK2 ll00delC among Swedish colorectal cancer patients, the variant frequency was determined in 174 selected familial cases, 644 unselected cases and 760 controls, as well as in l8 families used in the genome-wide linkage analysis, where weak linkage was seen for the region harboring the CHEK2 gene.
  
  
  RESULTS
  CHEK2 l100delC was found in 1.15% of familial and in 0.93% of unselected cases, compared to 0.66% of controls, showing no significant difference between groups. One out of 45 familial cases with a family history of breast cancer was shown to be a carrier. The variant was not identified in the 18 families included in the linkage analysis.
  
  
  CONCLUSIONS
  The CHEK2 1100delC was not significantly increased in Swedish colorectal cancer patients, however, in order to determine the role of the variant in colorectal cancer families with the history of breast cancer a larger sample size is needed.
authors.affiliation: Department of Molecular Medicine and Surgery, Stockholm, Sweden.
authors.forename: Tatjana
authors.initials: T
authors.lastname: Djureinovic
authors.forename: Annika
authors.initials: A
authors.lastname: Lindblom
authors.forename: Johan
authors.initials: J
authors.lastname: Dalén
authors.forename: Stefan
authors.initials: S
authors.lastname: Dedorson
authors.forename: David
authors.initials: D
authors.lastname: Edler
authors.forename: Fredrik
authors.initials: F
authors.lastname: Hjern
authors.forename: Jörn
authors.initials: J
authors.lastname: Holm
authors.forename: Claes
authors.initials: C
authors.lastname: Lenander
authors.forename: Ulrik
authors.initials: U
authors.lastname: Lindforss
authors.forename: Nils
authors.initials: N
authors.lastname: Lundqvist
authors.forename: Hans
authors.initials: H
authors.lastname: Olivecrona
authors.forename: Louise
authors.initials: L
authors.lastname: Olsson
authors.forename: Lars
authors.initials: L
authors.lastname: Påhlman
authors.forename: Jörgen
authors.initials: J
authors.lastname: Rutegård
authors.forename: Kennet
authors.initials: K
authors.lastname: Smedh
authors.forename: Anders
authors.initials: A
authors.lastname: Törnqvist
authors.forename: Hans
authors.initials: H
authors.lastname: Eiberg
authors.forename: Marie Luise
authors.initials: ML
authors.lastname: Bisgaard
mesh_terms: D016022:Case-Control Studies; D064447:Checkpoint Kinase 2; D002892:Chromosomes, Human, Pair 22; D015179:Colorectal Neoplasms / Q000201:enzymology* / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013548:Sweden
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases