Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2017
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation CLINVAR Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. 27751358

2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 GeneticVariation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737

2012
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation CLINVAR Response to DNA damage of CHEK2 missense mutations in familial breast cancer. 22419737

2012
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation CLINVAR The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. 19338683

2009
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation CLINVAR Germline CHEK2*1100delC mutations in breast cancer patients with multiple primary cancers. 15520402

2004
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 GeneticVariation CLINVAR Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2. 12049740

2002
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation 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
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 GeneticVariation 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
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 GeneticVariation CLINVAR The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. 11298456

2001
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 CausalMutation CLINVAR Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 10617473

1999