CHEK2, checkpoint kinase 2, 11200

N. diseases: 48; N. variants: 209
Disease: Li-Fraumeni Syndrome ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation disease CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002 2017
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation disease CLINVAR Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358 2016
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 GeneticVariation disease CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737 2012
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation disease CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737 2012
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation disease CLINVAR The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. 19338683 2009
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation disease CLINVAR Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers. 15520402 2004
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 GeneticVariation disease CLINVAR Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2. 12049740 2002
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation disease CLINVAR Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may substitute for inactivation of TP53. 11719428 2001
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 GeneticVariation disease CLINVAR Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may substitute for inactivation of TP53. 11719428 2001
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 GeneticVariation disease CLINVAR The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. 11298456 2001
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation disease CLINVAR Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 10617473 1999