Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR CHEK2 mutations and the risk of papillary thyroid cancer. 25583358

2015
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. 24880342

2014
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR 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
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. 22811390

2013
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR The risk of gastric cancer in carriers of CHEK2 mutations. 23296741

2013
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737

2012
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR 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
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR CHEK2 mutations and HNPCC-related colorectal cancer. 19876921

2010
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer. 18725978

2008
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR Characterization of CHEK2 mutations in prostate cancer. 16835864

2006
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia. 16574953

2006
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR The I157T variant may be associated with breast cancer risk, but the risk is lower than for 1100delC. 15239132

2004
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 11719428

2001
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 GeneticVariation CLINVAR The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. 11298456

2001
dbSNP: rs17879961
rs17879961
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.800 CausalMutation CLINVAR