TY - JOUR
T1 - The CHEK2 1100delC variant in Swedish colorectal cancer.
AU - Djureinovic, Tatjana
AU - Lindblom, Annika
AU - Dalén, Johan
AU - Dedorson, Stefan
AU - Edler, David
AU - Hjern, Fredrik
AU - Holm, Jörn
AU - Lenander, Claes
AU - Lindforss, Ulrik
AU - Lundqvist, Nils
AU - Olivecrona, Hans
AU - Olsson, Louise
AU - Påhlman, Lars
AU - Rutegård, Jörgen
AU - Smedh, Kennet
AU - Törnqvist, Anders
AU - Eiberg, Hans
AU - Bisgaard, Marie Luise
N1 - Keywords: Case-Control Studies; Chromosomes, Human, Pair 22; Colorectal Neoplasms; Germ-Line Mutation; Humans; Protein-Serine-Threonine Kinases; Sweden
PY - 2007
Y1 - 2007
N2 - 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. PATIENTS AND 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. CONCLUSION: 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.
AB - 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. PATIENTS AND 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. CONCLUSION: 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.
M3 - Journal article
C2 - 17214356
SN - 0250-7005
VL - 26
SP - 4885
EP - 4888
JO - Anticancer Research
JF - Anticancer Research
IS - 6C
ER -
