|
rs17879961
|
|
Breast Carcinoma
|
G |
0.900 |
GeneticVariation
|
GWASCAT |
Association analysis identifies 65 new breast cancer risk loci.
|
29059683 |
2017 |
|
rs17879961
|
|
Breast Carcinoma
|
G |
0.900 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
|
25751625 |
2015 |
|
rs17879961
|
|
Breast Carcinoma
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs200928781
|
|
Malignant neoplasm of breast
|
G |
0.810 |
GeneticVariation
|
CLINVAR |
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
|
29922827 |
2018 |
|
rs200928781
|
|
Malignant neoplasm of breast
|
G |
0.810 |
GeneticVariation
|
CLINVAR |
Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.
|
27553368 |
2016 |
|
rs200928781
|
|
Malignant neoplasm of breast
|
G |
0.810 |
GeneticVariation
|
CLINVAR |
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.
|
27751358 |
2016 |
|
rs200928781
|
|
Malignant neoplasm of breast
|
G |
0.810 |
GeneticVariation
|
CLINVAR |
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.
|
25503501 |
2015 |
|
rs200928781
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
In patients without family history, Y390C carriers tend to develop breast cancer early, before 35 years of age.
|
25619829 |
2015 |
|
rs200928781
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.
|
24366402 |
2014 |
|
rs200928781
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.
|
24366376 |
2014 |
|
rs200928781
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women.
|
21618645 |
2011 |
|
rs200928781
|
|
Malignant neoplasm of breast
|
G |
0.810 |
GeneticVariation
|
CLINVAR |
CHEK2 contribution to hereditary breast cancer in non-BRCA families.
|
22114986 |
2011 |
|
rs200928781
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The emerging landscape of breast cancer susceptibility.
|
18163131 |
2008 |
|
rs200928781
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.
|
17508274 |
2007 |
|
rs200928781
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
rs200928781
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.
|
12094328 |
2002 |
|
rs738722
|
|
Esophageal Neoplasms
|
T |
0.810 |
GeneticVariation
|
GWASCAT |
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.
|
20729852 |
2010 |
|
rs738722
|
|
Esophageal Neoplasms
|
T |
0.810 |
GeneticVariation
|
GWASDB |
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.
|
20729852 |
2010 |
|
rs137853007
|
|
Li-Fraumeni Syndrome 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.
|
11719428 |
2001 |
|
rs137853007
|
|
Li-Fraumeni Syndrome 2
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs137853008
|
|
Osteosarcoma
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs137853008
|
|
Osteosarcoma
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs17879961
|
|
Malignant neoplasm of breast
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
CHEK2 mutations and the risk of papillary thyroid cancer.
|
25583358 |
2015 |
|
rs17879961
|
|
Malignant neoplasm of breast
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
|
24880342 |
2014 |
|
rs17879961
|
|
Malignant neoplasm of breast
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
In total, 26,336 cases and 44,219 controls from 18 case-control studies were used in this meta-analysis, and significant associations of the CHEK2 I157T variant with cancer susceptibility were found (OR, 1.39; 95% CI, 1.19-1.63; p<0.0001), breast cancer (OR=1.58, 95% CI=1.42-1.75, p<0.00001) and colorectal cancer (OR=1.67, 95% CI=1.24-2.26, p=0.0008).
|
23713947 |
2013 |