The CHEK2 1100delC variant in Swedish colorectal cancer.
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.
Djureinovic
Tatjana
T
Department of Molecular Medicine and Surgery, Stockholm, Sweden.
Lindblom
Annika
A
Dalén
Johan
J
Dedorson
Stefan
S
Edler
David
D
Hjern
Fredrik
F
Holm
Jörn
J
Lenander
Claes
C
Lindforss
Ulrik
U
Lundqvist
Nils
N
Olivecrona
Hans
H
Olsson
Louise
L
Påhlman
Lars
L
Rutegård
Jörgen
J
Smedh
Kennet
K
Törnqvist
Anders
A
Eiberg
Hans
H
Bisgaard
Marie Luise
ML
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
D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases