rs17879961, CHEK2

N. diseases: 53
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE We analyzed the association between p.</span>I157T and the clinico-pathological breast cancer characteristics by comparing the p.I157T carrier tumors to non-carrier and c.1100delC carrier tumors. 27716369 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis. 26991782 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE Our research indicates that the CHEK2 I157T variant may be another important genetic mutation which increases risk of breast cancer, especially the lobular type. 22799331 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE Comparing the prevalence of CHEK2 mutations in BC with controls revealed that carriers of an I157T variant had OR of 1.80 for luminal A subtype and carriers of truncating mutations had OR of 6.26 for luminal B subtype of BC. 21701879 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE Seven thousand four hundred ninety-four BRCA1 mutation-negative patients with breast cancer and 4,346 control women were genotyped for four founder mutations in CHEK2 (del5395, IVS2+1G>A, 1100delC, and I157T). 21876083 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE Modest increases of breast cancer risk were observed for the four analysed CHEK2 variants (I157T, 1100delC, IVS2 + 1G > A and del5395) (OR = 2.2; 95% 1.7-2.8; P = 0.0001). 19030985 2009
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE Our study suggests that the risk of breast cancer in carriers of a deleterious CHEK2 mutation is increased if the second allele is the I157T missense variant. 18930998 2009
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE Despite the lack of association of I157T mutation with breast cancer development in our population we deduced that the FHA domain is the subject of rare population-specific alterations that might modify risk of various cancers. 18058223 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE Protein-truncating mutations in CHEK2 have been reported to confer higher risks of cancer of the breast and the prostate than the missense I157T variant. 17106448 2007
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE Our data indicate that the I157T allele, and possibly the IVS2+1G > A allele, of the CHEK2 gene contribute to inherited breast cancer susceptibility. 15810020 2005
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE There was no significant overall association between CHEK2 and breast cancer (OR = 1.3; p = 0.30), but among those with lobular carcinoma the association with the I157T missense mutation was very strong (OR = 6.6; p > 0.0001). 15803365 2005
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE The I157T variant may be associated with breast cancer risk, but the risk is lower than for 1100delC. 15239132 2004
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE Interestingly, we found no increased breast cancer risk associated with the splice site mutation IVS2+1G-->A or the most common missense mutation I157T, which account for more than half (12/21) of the variants observed in patients. 15095295 2004
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE The missense variant I157T was associated with an increased risk of breast cancer (OR 1.4; P=.02), colon cancer (OR 2.0; P=.001), kidney cancer (OR 2.1; P=.0006), prostate cancer (OR 1.7; P=.002), and thyroid cancer (OR 1.9; P=.04). 15492928 2004
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation BEFREE To evaluate the possible association of R117G and two germline variants reported elsewhere, R145W and I157T with breast cancer, we screened 737 BRCA1/2-negative familial breast cancer cases from 605 families, 459 BRCA1/2-positive cases from 335 families, and 723 controls from the United Kingdom, the Netherlands, and North America. 12610780 2003
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.900 GeneticVariation CLINVAR