Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.090 GeneticVariation BEFREE In total, 26,336 cases and 44,219 controls from 18 case-control studies were used in this meta-analysis, and significant associations of the CHEK2 I157T variant with cancer susceptibility were found (OR, 1.39; 95% CI, 1.19-1.63; p<0.0001), breast cancer (OR=1.58, 95% CI=1.42-1.75, p<0.00001) and colorectal cancer (OR=1.67, 95% CI=1.24-2.26, p=0.0008). 23713947 2013
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.090 GeneticVariation BEFREE In men with a CHEK2 missense mutation I157T, the cancer detection rate among men with an elevated PSA or an abnormal DRE was much higher (10.2%, P=0.0008). 23722471 2013
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.090 GeneticVariation BEFREE Germline mutations in CHK2 (1100delC, IVS2+1G>A and I157T) have been associated with a range of cancer types. 23107771 2013
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.090 GeneticVariation BEFREE Germline mutations in CHEK2 (1100delC, IVS2+1G>A and I157T) have been impaired serine/threonine kinase activity and associated with a range of cancer types. 22521562 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.090 GeneticVariation BEFREE A positive association was observed for HNPCC-related cancer and the I157T missense CHEK2 mutation (OR = 1.7; p = 0.007), but not for the truncating alleles (OR = 1.0; p = 1.0). 19876921 2010
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.090 GeneticVariation BEFREE The polymorphic variant Ile157Thr in exon 3 of the gene has been demonstrated to enhance the risk of several types of cancer and at the same time to reduce the risk for developing other cancer types. 18834326 2009
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.090 GeneticVariation BEFREE We genotyped 630 unselected MM patients and over 3700 controls (newborns, age- and sex-matched healthy adults with negative cancer family histories, and the adults selected at random by family doctors) for the prevalence of three common variants of the BRCA2 (T1915M, N991D and N372H) and four common variants of the CHEK2 (1100delC, VS2+1G --> A, I157T and del5395). 18024013 2008
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.090 GeneticVariation BEFREE The frequency, penetrance and epidemiological as well as clinical significance of the two most studied breast cancer-predisposing variants of the CHEK2 gene, 1100delC and I157T, are highlighted in more depth, and additional CHEK2 mutations and their cancer relevance are discussed as well. 16998506 2006
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.090 GeneticVariation BEFREE Furthermore, the higher frequency of I157T among patients with multiple primary tumours as well as those with a family history of any cancer supports a role for CHEK2 I157T as a susceptibility allele for multiple cancer types. 16816021 2006