Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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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 | ||||
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0.470 | GeneticVariation | disease | BEFREE | Mutations in the CHEK2 gene have been associated with increased risks of breast, prostate and colon cancer. | 18281249 | 2008 | ||||
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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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
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0.470 | GeneticVariation | disease | CLINVAR | |||||||
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0.470 | GeneticVariation | disease | UNIPROT | |||||||
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0.470 | CausalMutation | disease | CLINVAR |