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http://dx.doi.org/10.7314/APJCP.2012.13.5.2051

The CHEK2 I157T Variant and Colorectal Cancer Susceptibility: A Systematic Review and Meta-analysis  

Liu, Chuan (Department of Oncology, Changhai Hospital, The Second Military Medical University)
Wang, Qing-Shui (Department of Oncology, Changhai Hospital, The Second Military Medical University)
Wang, Ya-Jie (Department of Oncology, Changhai Hospital, The Second Military Medical University)
Publication Information
Asian Pacific Journal of Cancer Prevention / v.13, no.5, 2012 , pp. 2051-2055 More about this Journal
Abstract
Background: The cell cycle checkpoint kinase 2 (CHEK2) gene I157T variant may be associated with an increased risk of colorectal cancer, but it is unclear whether the evidence is sufficient to recommend testing for the mutation in clinical practice. Materials and Methods: We systematically searched PubMed, EMBASES, Elsevier and Springer for relevant articles before Apr 2012. Summary odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using a fixed-effects or random-effects models with Review Manager 5.0 software. Results: A total of seven studies including 4,029 cases and 13,844 controls based on the search criteria were included for analysis. A significant association of the CHEK2 I157T C variant with unselected CRC was found (OR = 1.61, 95% CI = 1.40-1.87, P < 0.001). We also found a significant association with sporadic CRC (OR = 1.48, 95% CI = 1.23-1.77, P < 0.001) and separately with familial CRC (OR = 1.97, 95% CI = 1.41-2.74, P < 0.001). Conclusion: This meta-analysis demonstrates that the CHEK2 I157T variant may be another important CRC-predisposing gene, which increases CRC risk, especially in familial CRC.
Keywords
Meta-analysis; colorectal cancer; CHEK2 I157T;
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1 Ahmedin J, Freddie B, Melissa M, et al (2011). Global Cancer Statistics. CA Cancer J Clin, 61, 69-90.   DOI
2 Bartek J, Falck J, Lukas J (2001). CHK2 kinase: a busy messenger. Nat Rev Mol Cell Biol, 2, 877-86.   DOI
3 Bartek J, Lukas J (2001). Mammalian G1- and S- phase checkpoints in response to DNA damage. Curr Opin Cell Biol, 13, 738-47.   DOI   ScienceOn
4 Bartek J, Lukas J (2003). Chk1 and Chk2 kinases in checkpoint control and cancer. Cancer Cell, 3, 421-9.   DOI
5 Barone M, Lofano K, De Tullio N, et al (2012). Dietary, endocrine, and metabolic factors in the development of colorectal cancer. J Gastrointest Cancer, 43, 13-9.
6 Bell DW, Varley JM, Szydlo TE et al (1999) Heterozygous germ line CHK2 mutations in Li-Fraumeni syndrome. Science, 286, 2528-31.   DOI   ScienceOn
7 Brennan P, McKay J, Moore L, et al (2007). Uncommon CHEK2 missense variant and reduced risk of tobacco-related cancers: case control study. Hum Mol Genet, 16, 1794-801.   DOI
8 Chaturvedi P, Eng WK, Zhu Y, et al (1999). Mammalian Chk2 is a downstream effector of the ATM-dependent DNA damage checkpoint pathway. Oncogene, 18, 4047-54.   DOI
9 Chehab NH, Malikzay A, Appel M, et al (2000). Chk2/hCds1 functions as a DNA damage checkpoint in G1 by stabilizing p53. Genes Dev, 14, 278-88.
10 Cochran WG (1954). The combination of estimates from different experiments. Biometrics, 10, 101-29.   DOI
11 Cybulski C, Gorski B, Huzarski T, et al (2004). CHEK2 is a multi-organ cancer susceptibility gene. Am J Hum Genet, 75, 1131-5.   DOI
12 Cybulski C, Huzarski T, Gorski B et al (2004). A novel founder CHEK2 mutation is associated with increased prostate cancer risk. Cancer Res, 64, 2677-9.   DOI
13 Cybulski C, Wokolorczyk D, Kladny J, et al (2007). Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? Eur J Hum Genet, 15, 237-41.   DOI
14 Der Simonian R, Laird N (1986). Meta-analysis in clinical trials. Control Clin Trials, 7, 177-88.   DOI
15 Domagala P, Wokolorczyk D, Cybulski C, et al (2012). Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer. Breast Cancer Res Treat, 132, 937-45.   DOI
16 Egger M, Davey SG, Schneider M et al (1997). Bias in metaanalysis detected by a simple, graphical test. Br Med J, 315, 629-34.   DOI
17 Higgins JP, Thompson SG (2002). Quantifying heterogeneity in a meta-analysis. Stat Med, 21, 1539-58.   DOI   ScienceOn
18 Hutter CM, Chang-Claude J, Slattery ML, et al (2012). Characterization of gene-environment interactions for colorectal cancer susceptibility loci. Cancer Res, 72, 2036-44.   DOI
19 Irmejs A, Miklasevics E, Boroschenko V, et al (2006). Pilot study on low penetrance breast and colorectal cancer predisposition markers in latvia. Hered Cancer Clin Pract, 4, 48-51.   DOI
20 Kilpivaara O, Alhopuro P, Vahteristo P, et al (2006). CHEK2 I157T associates with familial and sporadic colorectal cancer. J Med Genet, 43, e34.
21 Kilpivaara O, Vahteristo P, Falck J, et al (2004). CHEK2 variant I157 may be associated with increased breast cancer risk. Int J Cancer, 111, 543-7.   DOI
22 Kleibl Z, Havranek O, Hlavata I, et al (2009). The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population. Eur J Cancer, 45, 618-24.   DOI   ScienceOn
23 Knudson AG (2001). Hereditary cancer: Two hits revisited. J Cancer Res Clin Oncol, 122, 135-40.
24 Konstantinova D, Kadiyska T, Sokolova V, et al (2010). CHEK2 I157T and colorectal cancer in Bulgaria. J BUON, 15, 314-7.
25 Kuusisto KM, Bebel A, Vihinen M, et al (2011). Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals. Breast Cancer Res, 28, R20.
26 Kuchiba A, Morikawa T, Yamauchi M, et al (2012). Body mass index and risk of colorectal cancer according to fatty acid synthase expression in the nurses' health study. J Natl Cancer Inst, 104, 415-20.   DOI
27 Lichtenstein P, Holm NV, Holm PK, et al (2000). Environmental and heritable factors in the causation of cancer: analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med, 343, 78-84.   DOI
28 Lizis-Kolus K, Kowalska A, Kozak-Klonowska B, et al (2010). Case report of a woman with monoclonal gammapathy and papillary thyroid carcinoma, diagnosed because of detection of CHEK2 (I157T) mutation in genetic examinations. Endokrynol Pol, 61, 502-6.
29 Mantel N, Haenszel W (1959). Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst, 22, 719-48.
30 Rowan AJ, Lamlum H, IIyas M, et al (2000). APC mutations in sporadic colorectal tumors: A mutational "hotspot" and interdependence of the "two hits". PNAS, 97, 3352-7.   DOI   ScienceOn
31 Scharrer U, Skrzypczak-Zielinsk M, Wituszynska W, et al (2010). A simple method of investigating mutations in CHEK2 by DHPLC: a study of the German populations of Saxony, Saxony-Anhalt, and Thuringia. Cancer Genet Cytogenet, 199, 48-52.   DOI
32 Suchy J, Cybulski C, Wokolorczyk D, et al (2010). CHEK2 mutations and HNPCC-related colorectal cancer. Int J Cancer, 126, 3005-9.
33 Tischkowitz MD, Yilmaz A, Chen LQ, et al (2008). Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. Cancer Lett, 18, 173-80.
34 Tomlinson IP, Houlston RS, Montgomery GW, et al (2012). Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer. Mutagenesis, 27, 219-23.   DOI
35 Turnbull C, Seal S, Renwick A, et al (2012). Gene-gene interactions in breast cancer susceptibility. Hum Mol Genet, 21, 958-62.   DOI
36 Weischer M, Bojesen SE, Ellervik C, et al (2008). CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol, 26, 542-8.   DOI
37 Xiang HP, Geng XP , Ge WW, et al (2011). Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility. EUR J Cancer, 47, 2546-51.   DOI
38 zur Hausen H (2012). Red meat consumption and cancer: reasons to suspect involvement of bovine infectious factors in colorectal cancer. Int J Cancer, 130, 2475-83.   DOI