Gene: CHEK2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations. 30152102

2018
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population. 29785153

2018
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women. 28727877

2017
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel. 27798748

2017
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes. 28495237

2017
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing. 28981386

2017
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Efforts Toward Consensus Variant Interpretation by Commercial Laboratories. 28135139

2017
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing. 27621404

2016
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016
dbSNP: rs200432447
rs200432447
CHEK2
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587780174
rs587780174
CHEK2
T 0.700 CausalMutation CLINVAR Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. 26534844

2016
dbSNP: rs587780174
rs587780174
CHEK2
T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587782008
rs587782008
CHEK2
A 0.700 GeneticVariation CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890

2016
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 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: rs200432447
rs200432447
CHEK2
A 0.700 CausalMutation CLINVAR Use of panel tests in place of single gene tests in the cancer genetics clinic. 25318351

2015
dbSNP: rs200432447
rs200432447
CHEK2
A 0.700 CausalMutation 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: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory. 24506336

2014
dbSNP: rs587780174
rs587780174
CHEK2
T 0.700 CausalMutation CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621

2014
dbSNP: rs587780174
rs587780174
CHEK2
T 0.700 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737

2012
dbSNP: rs587780174
rs587780174
CHEK2
T 0.700 CausalMutation CLINVAR Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. 21244692

2011
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. 18571837

2008
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women. 18706089

2008
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. 18085035

2007
dbSNP: rs137853011
rs137853011
CHEK2
A 0.700 GeneticVariation CLINVAR Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. 16551709

2006