CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.470 GeneticVariation disease BEFREE The CHEK2*I157T missense mutation, reported in ethnically diverse, high-risk families, moderately increases breast and colon cancer risk. 19609724 2009
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.470 GeneticVariation disease BEFREE Mutations in the CHEK2 gene have been associated with increased risks of breast, prostate and colon cancer. 18281249 2008
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.470 GeneticVariation disease BEFREE Thus, it seems that the clinical expression of CHEK2 variant alleles on prostate and colon cancer risk may be restricted to individuals with a specific genotype (VV) of the p27 gene. 17372254 2007
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.470 GeneticVariation disease BEFREE Recently, CHEK2 has been identified as multi-organ cancer susceptibility gene associated with a predisposition to breast, prostate and colon cancer. 16858628 2006
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.470 AlteredExpression disease BEFREE A concentration- and time-dependent cell cycle blockade at G2/M phase was observed in human colon cancer cells (HCT-116) following 11,11'-dideoxyverticillin treatment and was associated with marked increases in levels of p53, phospho-p53(ser20) and phospho-Chk2(Thr 68). 15963507 2005
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.470 Biomarker disease BEFREE Whereas among Li-Fraumeni syndrome families mutations of Chk2 or p53 occur in a mutually exclusive manner, we document that the colon cancer cell line HCT-15 concomitantly lacks functions of both Chk2 and p53, the latter demonstrated by a non-invasive reporter assay monitoring p53-dependent transactivation in live cells. 11571648 2001
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.470 GeneticVariation disease BEFREE Studies such as those on APC I1307K and CHEK2 1100delC may suggest the way forward for the identification of 'breast-colon cancer' genes. 14574178 2001
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.470 GeneticVariation disease CLINVAR
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.470 GeneticVariation disease UNIPROT
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.470 CausalMutation disease CLINVAR