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 CLINGEN Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications. 21542898 2011
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. 24713400 2014
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study. 26884562 2016
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.400 Biomarker disease CLINGEN hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response. 10724175 2000
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 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