Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker CLINGEN 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: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker CLINGEN PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker CLINGEN A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. 24713400

2014
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker CLINGEN Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications. 21542898

2011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker CLINGEN Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 21876083

2011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker CLINGEN Concomitant inactivation of p53 and Chk2 in breast cancer. 11857075

2002
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker CLINGEN A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 12094328

2002
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker CLINGEN hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response. 10724175

2000
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker CLINGEN DNA damage-induced activation of p53 by the checkpoint kinase Chk2. 10710310

2000