Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE After filtering, 15 pathogenic germline variants (9.9%) were found in 15 patients, arising from 9 genes of varying penetrance for colorectal cancer (APC (n = 2; 13%), ATM (n = 1; 6%), BRCA1 (n = 2; 13%), CDH1 (n = 2; 13%), CHEK2 (n = 4; 27%), MSH2 (n = 1; 7%), MSH6 (n = 1; 7%), NF2 (n = 1; 7%), and TP53 (n = 1; 7%)). 30730459

2019

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE A hospital-based case-control study, including 1,121 cases and 1,056 controls was conducted to evaluate the association between eight selected single nucleotide polymorphisms (SNPs) (rs35514263 in <i>ATR</i>; rs492510, rs558351 in <i>CHKE1</i>; rs189037 in <i>ATM</i>; rs2236141, rs5762748, rs2236142 and rs9620817 in <i>CHEK2</i>) in ATR-CHEK1 and ATM-CHEK2 pathways and the risk of colorectal cancer in a Chinese population by using TaqMan method. 29928473

2018

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE Cumulative epidemiological evidence for a significant association with CRC risk was graded strong for eight variants in five genes (adenomatous polyposis coli (APC), CHEK2, DNMT3B, MLH1 and MUTYH), moderate for two variants in two genes (GSTM1 and TERT), and weak for 52 variants in 45 genes. 23946381

2014

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE This phenotype is induced by overexpression of the oncogene AURKA or by loss of the tumour suppressor gene CHK2, a genetic constitution found in 73% of human colorectal cancers. 24976383

2014

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE This meta-analysis demonstrates that the CHEK2 I157T variant was an important cancer gene, which increases cancer risk, especially in breast and colorectal cancer in Caucasian, and the bioinformatic analysis showed this change was mainly attributed to the decreased hydrophobicity of CHEK2 157T. 23713947

2013

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE The CHEK2 I157T variant and colorectal cancer susceptibility: a systematic review and meta-analysis. 22901170

2012

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE Our result demonstrate for the first time that CHEK2 1100delC, IVS2+1G>A and I157T mutations have not been agenetic susceptibility factor for CRC in the Turkish population. 22521562

2012

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE Rare variants in CHEK2 (I157T and possibly del1100C) also appear to be associated with CRC risk. 22294770

2012

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE We also found an association of the CHEK2 1100delC variant with familial CRC (OR=2.80, 95% CI=1.74-4.51, P<0.0001). 21807500

2011

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker BEFREE We investigated the contribution of CHK2 to oxaliplatin-mediated toxicity in a colorectal cancer model. 20128802

2010

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE We conclude that CHEK2 I157T is not relevant for CRC risk in Bulgaria, but studies on a larger scale might help evaluate its possible significance in respect to disease characteristics. 20658728

2010

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE We conclude that the I157T variant of CHEK2 increases the risk of colorectal cancer among MMR-negative, HNPCC/HNPCC-related families in Poland. 19876921

2010

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE The increased risk of CRC was associated with mutations in CHEK2 gene region involving fork head-associated domain [39/631 (6.2%) cases versus 19/683 (2.8%) controls; odds ratio (OR)=2.3; 95% confidence interval (CI)=1.3-4.0; p=0.003], and with the most frequent I157T mutation [30/631 (4.8%) cases versus 17/683 (2.5%) controls; OR=2.0; 95% CI=1.1-3.6; p=0.03]. 18996005

2009

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE Nine of the 10 CHEK2 1100delC colorectal cancer cases met the revised Amsterdam and/or Bethesda criteria. 18676774

2008

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE The CHEK2 1100delC variant in Swedish colorectal cancer. 17214356

2007

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE The CHK2 mutation in colorectal cancer is a low frequency event. 18167186

2007

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? 17106448

2007

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE In summary, our data suggest that the CHEK2 1100delC is not a major cause of double primary breast and colorectal cancer in Sweden, which suggests that this patient group should not routinely be screened for the CHEK2 1100delC variant. 16539695

2006

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes. 17026620

2006

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE CHEK2 I157T associates with an increased risk of CRC: the association was observed both among familial and sporadic CRC patients. 16816021

2006

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE LOH across the CHEK2 locus is common in sporadic breast, ovarian, and colorectal cancers, but point mutation or epigenetic inactivation of the retained allele is uncommon. 17145815

2006

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE Large case-control studies are required to clarify the exact role of the CHEK2 1100delC mutation in CRC. 15852425

2005

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE It is also concluded that CHEK2 protein abrogation is not caused by the CHEK2 germline variants R117G, R137Q, R145W, I157T, and R180H in familial colorectal cancer. 15818573

2005

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker BEFREE In this study, using 6-thioguanine (6-TG) as a mismatch-inducing drug, we examine the role of ataxia telangiectasia mutated (ATM)/CHK2 and ATM and Rad-3 related (ATR)/CHK1 signaling pathways in MMR-mediated cell cycle responses in MMR-proficient human colorectal cancer RKO cells. 15367709

2004

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE The CHEK2 1100delC mutation was, however, not the major predisposing factor for the HBCC phenotype but appeared to act in synergy with another, as-yet-unknown susceptibility gene(s). 12690581

2003