Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation CLINVAR Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing. 30128536

2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation CLINVAR Pancreatic cancer as a sentinel for hereditary cancer predisposition. 29945567

2018
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation CLINVAR Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition. 30256826

2018
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation CLINVAR Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer. 28503720

2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation CLINVAR Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility. 28386063

2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 CausalMutation 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation CLINVAR Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation CLINVAR Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. 26556299

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 CausalMutation CLINVAR Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation CLINVAR PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 CausalMutation CLINVAR Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan. 27510020

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 CausalMutation CLINVAR Comparative genomic analysis of primary tumors and metastases in breast cancer. 27028851

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation CLINVAR Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. 27553368

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 CausalMutation CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 CausalMutation CLINVAR Prevalence of the CHEK2 R95* germline mutation. 27708748

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 GeneticVariation CLINVAR A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer. 27067391

2016