CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Breast Cancer, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease 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
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease 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
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease BEFREE Compared with control datasets, predicted damaging rare missense variants were significantly more prevalent in CHEK2 and TP53 in BC index patients. 29522266 2018
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN DNA damage-induced activation of p53 by the checkpoint kinase Chk2. 10710310 2000
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995 2016
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN Concomitant inactivation of p53 and Chk2 in breast cancer. 11857075 2002
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease 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
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 21876083 2011
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. 12094328 2002