| 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 | ||||||||
Prostate cancer, familial
|
0.010 | GeneticVariation | BEFREE | I157T was identified in 16% of men with familial prostate cancer (OR = 3.8; P = 0.00002). | 15087378 | 2004 | |||||
Breast Carcinoma
|
0.900 | GeneticVariation | BEFREE | A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis. | 26991782 | 2016 | |||||
Malignant neoplasm of breast
|
0.800 | GeneticVariation | BEFREE | A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis. | 26991782 | 2016 | |||||
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 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. | 17085682 | 2006 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | A novel founder CHEK2 mutation is associated with increased prostate cancer risk. | 15087378 | 2004 | |||||
Primary malignant neoplasm
|
0.090 | GeneticVariation | BEFREE | A positive association was observed for HNPCC-related cancer and the I157T missense CHEK2 mutation (OR = 1.7; p = 0.007), but not for the truncating alleles (OR = 1.0; p = 1.0). | 19876921 | 2010 | |||||
Malignant Neoplasms
|
0.090 | GeneticVariation | BEFREE | A positive association was observed for HNPCC-related cancer and the I157T missense CHEK2 mutation (OR = 1.7; p = 0.007), but not for the truncating alleles (OR = 1.0; p = 1.0). | 19876921 | 2010 | |||||
Thyroid carcinoma
|
0.020 | GeneticVariation | BEFREE | A truncating mutation (IVS2 + 1G>A, 1100delC or del5395) was associated with a higher risk of thyroid cancer (OR = 5.7; p = 0.006), than was the missense mutation I157T (OR = 2.8; p = 0.0001). | 25583358 | 2015 | |||||
Malignant neoplasm of thyroid
|
0.020 | GeneticVariation | BEFREE | A truncating mutation (IVS2 + 1G>A, 1100delC or del5395) was associated with a higher risk of thyroid cancer (OR = 5.7; p = 0.006), than was the missense mutation I157T (OR = 2.8; p = 0.0001). | 25583358 | 2015 | |||||
Thyroid Neoplasm
|
0.020 | GeneticVariation | BEFREE | A truncating mutation (IVS2 + 1G>A, 1100delC or del5395) was associated with a higher risk of thyroid cancer (OR = 5.7; p = 0.006), than was the missense mutation I157T (OR = 2.8; p = 0.0001). | 25583358 | 2015 | |||||
Papillary thyroid carcinoma
|
0.030 | GeneticVariation | BEFREE | As a result of the study, we identified CHEK2 rs17879961 (OR = 2.2, P = 2.37e-10) and BRCA1 rs16941 (odds ratio [OR] = 1.16, P = 0.005) as risk alleles for PTC. | 24599715 | 2014 | |||||
Breast Carcinoma
|
0.900 | GeneticVariation | GWASCAT | Association analysis identifies 65 new breast cancer risk loci. | 29059683 | 2017 |