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 BEFREE Here, we briefly outline the molecular properties, regulation and physiological role of CHEK2, and review in more detail its defects that predispose to tumors, with particular emphasis on familial breast cancer. 16998506

2006

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker BEFREE Hence, our approach allowed us to specify BC relative risks associated with deleterious-predicted variants in PALB2, ATM and CHEK2 and to add MAST1, POLH, RTEL1 and FANCI to the list of DNA repair genes possibly involved in BC susceptibility. 30303537

2019

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.400 Biomarker BEFREE Compared with control datasets, predicted damaging rare missense variants were significantly more prevalent in CHEK2 and TP53 in BC index patients. 29522266

2018

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

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 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 BEFREE The high Ile(157)--> Thr(157)mutation frequency (6.5%) observed in healthy controls and the lack of other mutations suggest that CHK2 does not contribute significantly to the hereditary breast cancer or LFL-associated breast cancer risk, at least not in the Finnish population. 11461078

2001

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 A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 12094328

2002