Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. 11298456 2001
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2. 12049740 2002
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The CHEK2 I157T variant and colorectal cancer susceptibility: a systematic review and meta-analysis. 22901170 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population. 25798211 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR CHEK2 mutations and the risk of papillary thyroid cancer. 25583358 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Association of two mutations in the CHEK2 gene with breast cancer. 15810020 2005
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. 21514219 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population. 18996005 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The CHEK2 I157T variant and breast cancer susceptibility: a systematic review and meta-analysis. 22799331 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Phosphorylation of threonine 68 promotes oligomerization and autophosphorylation of the Chk2 protein kinase via the forkhead-associated domain. 11901158 2002
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk. 19030985 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Characterization of tumor-associated Chk2 mutations. 11053450 2001
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations. 18930998 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Pilot study on low penetrance breast and colorectal cancer predisposition markers in latvia. 20223004 2006
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 11719428 2001
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The effect of CHEK2 variant I157T on cancer susceptibility: evidence from a meta-analysis. 23713947 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer. 21701879 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR CHEK2 I157T associates with familial and sporadic colorectal cancer. 16816021 2006
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The hCds1 (Chk2)-FHA domain is essential for a chain of phosphorylation events on hCds1 that is induced by ionizing radiation. 11390408 2001
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR CHEK2 is a multiorgan cancer susceptibility gene. 15492928 2004
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Structure and activation mechanism of the CHK2 DNA damage checkpoint kinase. 19782031 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016