The CHEK2 1100delC variant in Swedish colorectal cancer.

Tatjana Djureinovic; Annika Lindblom; Johan Dalén; Stefan Dedorson; David Edler; Fredrik Hjern; Jörn Holm; Claes Lenander; Ulrik Lindforss; Nils Lundqvist; Hans Olivecrona; Louise Olsson; Lars Påhlman; Jörgen Rutegård; Kennet Smedh; Anders Törnqvist; Hans Eiberg; Marie Luise Bisgaard

The CHEK2 1100delC variant in Swedish colorectal cancer.

Tatjana Djureinovic, Annika Lindblom, Johan Dalén, Stefan Dedorson, David Edler, Fredrik Hjern, Jörn Holm, Claes Lenander, Ulrik Lindforss, Nils Lundqvist, Hans Olivecrona, Louise Olsson, Lars Påhlman, Jörgen Rutegård, Kennet Smedh, Anders Törnqvist, Hans Eiberg, Marie Luise Bisgaard

Department of Cellular and Molecular Medicine

8 Citations (Scopus)

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. 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.

Original language	English
Journal	Anticancer Research
Volume	26
Issue number	6C
Pages (from-to)	4885-8
Number of pages	3
ISSN	0250-7005
Publication status	Published - 2007

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@article{55f6f4608edc11dd86a6000ea68e967b,

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. 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.",

author = "Tatjana Djureinovic and Annika Lindblom and Johan Dal{\'e}n and Stefan Dedorson and David Edler and Fredrik Hjern and J{\"o}rn Holm and Claes Lenander and Ulrik Lindforss and Nils Lundqvist and Hans Olivecrona and Louise Olsson and Lars P{\aa}hlman and J{\"o}rgen Ruteg{\aa}rd and Kennet Smedh and Anders T{\"o}rnqvist and Hans Eiberg and Bisgaard, {Marie Luise}",

note = "Keywords: Case-Control Studies; Chromosomes, Human, Pair 22; Colorectal Neoplasms; Germ-Line Mutation; Humans; Protein-Serine-Threonine Kinases; Sweden",

year = "2007",

language = "English",

volume = "26",

pages = "4885--8",

journal = "Anticancer Research",

issn = "0250-7005",

publisher = "International Institute of Anticancer Research",

number = "6C",

}

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 -

The CHEK2 1100delC variant in Swedish colorectal cancer.

Abstract

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