CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease:
Breast Carcinoma
G 0.900 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease:
Breast Carcinoma
G 0.900 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
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
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0678222
Disease:
Breast Carcinoma
G 0.900 GeneticVariation CLINVAR
dbSNP: rs200928781
rs200928781
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast
G 0.810 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827 2018
dbSNP: rs200928781
rs200928781
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast
G 0.810 GeneticVariation CLINVAR Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. 27553368 2016
dbSNP: rs200928781
rs200928781
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast
G 0.810 GeneticVariation CLINVAR Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358 2016
dbSNP: rs200928781
rs200928781
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT In patients without family history, Y390C carriers tend to develop breast cancer early, before 35 years of age. 25619829 2015
dbSNP: rs200928781
rs200928781
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease:
Malignant neoplasm of breast
G 0.810 GeneticVariation CLINVAR Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. 25503501 2015