| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Breast Carcinoma
|
0.900 | GeneticVariation | CLINVAR | ||||||||
Malignant neoplasm of breast
|
0.800 | CausalMutation | CLINVAR | ||||||||
Malignant tumor of colon
|
0.710 | GeneticVariation | CLINVAR | ||||||||
Endometrial Carcinoma
|
0.710 | GeneticVariation | CLINVAR | ||||||||
Malignant neoplasm of ovary
|
0.710 | GeneticVariation | CLINVAR | ||||||||
COLORECTAL CANCER, SUSCEPTIBILITY TO
|
0.700 | SusceptibilityMutation | CLINVAR | ||||||||
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
|
0.700 | SusceptibilityMutation | CLINVAR | ||||||||
PROSTATE CANCER, SUSCEPTIBILITY TO
|
0.700 | SusceptibilityMutation | CLINVAR | ||||||||
BREAST CANCER, SUSCEPTIBILITY TO
|
0.700 | CausalMutation | CLINVAR | ||||||||
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Li-Fraumeni Syndrome 2
|
0.700 | CausalMutation | CLINVAR | ||||||||
Neoplastic Syndromes, Hereditary
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Malignant neoplasm of breast
|
0.800 | GeneticVariation | CLINVAR | Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. | 11719428 | 2001 | |||||
Malignant neoplasm of breast
|
0.800 | GeneticVariation | CLINVAR | The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. | 11298456 | 2001 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. | 11298456 | 2001 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Characterization of tumor-associated Chk2 mutations. | 11053450 | 2001 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. | 11719428 | 2001 | |||||
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
|
0.700 | CausalMutation | CLINVAR | Functional impact of concomitant versus alternative defects in the Chk2-p53 tumour suppressor pathway. | 11571648 | 2001 | |||||
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
|
0.700 | CausalMutation | CLINVAR | Phosphorylation of threonine 68 promotes oligomerization and autophosphorylation of the Chk2 protein kinase via the forkhead-associated domain. | 11901158 | 2002 | |||||
Mantle cell lymphoma
|
0.010 | GeneticVariation | BEFREE | A heterozygous Ile157Thr substitution, also present in the germ line of the patient, was detected in a blastoid mantle cell lymphoma (MCL). | 12393693 | 2002 | |||||
Breast Carcinoma
|
0.900 | GeneticVariation | BEFREE | To evaluate the possible association of R117G and two germline variants reported elsewhere, R145W and I157T with breast cancer, we screened 737 BRCA1/2-negative familial breast cancer cases from 605 families, 459 BRCA1/2-positive cases from 335 families, and 723 controls from the United Kingdom, the Netherlands, and North America. | 12610780 | 2003 | |||||
Malignant neoplasm of breast
|
0.800 | GeneticVariation | BEFREE | To evaluate the possible association of R117G and two germline variants reported elsewhere, R145W and I157T with breast cancer, we screened 737 BRCA1/2-negative familial breast cancer cases from 605 families, 459 BRCA1/2-positive cases from 335 families, and 723 controls from the United Kingdom, the Netherlands, and North America. | 12610780 | 2003 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Regulation of the Chk2 protein kinase by oligomerization-mediated cis- and trans-phosphorylation. | 12805407 | 2003 |