Gene: CHEK2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200928781
rs200928781
CHEK2
G 0.810 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018
dbSNP: rs200928781
rs200928781
CHEK2
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
CHEK2
G 0.810 GeneticVariation CLINVAR Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358

2016
dbSNP: rs200928781
rs200928781
CHEK2
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
CHEK2
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
dbSNP: rs200928781
rs200928781
CHEK2
0.810 GeneticVariation BEFREE In patients without family history, Y390C carriers tend to develop breast cancer early, before 35 years of age. 25619829

2015
dbSNP: rs200928781
rs200928781
CHEK2
0.810 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014
dbSNP: rs200928781
rs200928781
CHEK2
0.810 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014
dbSNP: rs200928781
rs200928781
CHEK2
0.810 GeneticVariation UNIPROT A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women. 21618645

2011
dbSNP: rs200928781
rs200928781
CHEK2
G 0.810 GeneticVariation CLINVAR CHEK2 contribution to hereditary breast cancer in non-BRCA families. 22114986

2011
dbSNP: rs200928781
rs200928781
CHEK2
0.810 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008
dbSNP: rs200928781
rs200928781
CHEK2
0.810 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007
dbSNP: rs200928781
rs200928781
CHEK2
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs200928781
rs200928781
CHEK2
0.810 GeneticVariation UNIPROT A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 12094328

2002
dbSNP: rs17879961
rs17879961
CHEK2
0.800 GeneticVariation BEFREE A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis. 26991782

2016
dbSNP: rs17879961
rs17879961
CHEK2
0.800 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
CHEK2
G 0.800 GeneticVariation CLINVAR CHEK2 mutations and the risk of papillary thyroid cancer. 25583358

2015
dbSNP: rs17879961
rs17879961
CHEK2
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
0.800 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
CHEK2
G 0.800 GeneticVariation CLINVAR The risk of gastric cancer in carriers of CHEK2 mutations. 23296741

2013
dbSNP: rs17879961
rs17879961
CHEK2
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
G 0.800 GeneticVariation CLINVAR BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. 22811390

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

2012