Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report. 31349801

2019

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families. 28608266

2018

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer. 29368341

2018

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer. 29520813

2018

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel. 27798748

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population. 28874143

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel. 27798748

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Colorectal cancer risk associated with the CHEK2 1100delC variant. 28734145

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53. 28486781

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes. 28495237

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. 27616075

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study. 28125075

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing. 27273131

2016

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study. 26884562

2016

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395

2016

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949

2016

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846

2016

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995

2016