|
rs137853007
|
|
Li-Fraumeni Syndrome 2
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs137853007
|
|
Li-Fraumeni Syndrome
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
|
22419737 |
2012 |
|
rs137853007
|
|
Li-Fraumeni Syndrome
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2.
|
12049740 |
2002 |
|
rs137853007
|
|
Li-Fraumeni Syndrome
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Here, we describe a CHK2 missense mutation (R145W) in another LFS family.
|
11719428 |
2001 |
|
rs137853007
|
|
Li-Fraumeni Syndrome
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.
|
11298456 |
2001 |
|
rs137853007
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
|
28724667 |
2017 |
|
rs137853007
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
rs137853007
|
|
Malignant neoplasm of breast
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
|
27067391 |
2016 |
|
rs137853007
|
|
Malignant neoplasm of breast
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
|
24728327 |
2014 |
|
rs137853007
|
|
Malignant neoplasm of breast
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
|
24549055 |
2014 |
|
rs137853007
|
|
Malignant neoplasm of breast
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
The genetic landscape of high-risk neuroblastoma.
|
23334666 |
2013 |
|
rs137853007
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
|
22419737 |
2012 |
|
rs137853007
|
|
Malignant neoplasm of breast
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
|
22419737 |
2012 |
|
rs137853007
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
CHEK2 contribution to hereditary breast cancer in non-BRCA families.
|
22114986 |
2011 |
|
rs137853007
|
|
Malignant neoplasm of breast
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
CHEK2 contribution to hereditary breast cancer in non-BRCA families.
|
22114986 |
2011 |
|
rs137853007
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Structure and activation mechanism of the CHK2 DNA damage checkpoint kinase.
|
19782031 |
2009 |
|
rs137853007
|
|
Malignant neoplasm of breast
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation.
|
16982735 |
2006 |
|
rs137853007
|
|
Malignant neoplasm of breast
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
CHEK2 variant I157T may be associated with increased breast cancer risk.
|
15239132 |
2004 |
|
rs137853007
|
|
Malignant neoplasm of breast
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
We report here on the frequency of three CHEK2 variants that alter protein function--1100delC, R145W, and I175T--in 506 cases and 459 controls from a population based, case-control study of breast cancer conducted in young women from western Washington.
|
15535844 |
2004 |
|
rs137853007
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women.
|
15535844 |
2004 |
|
rs137853007
|
|
Malignant neoplasm of breast
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2.
|
12049740 |
2002 |
|
rs137853007
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2.
|
12049740 |
2002 |
|
rs137853007
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.
|
11719428 |
2001 |
|
rs137853007
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.
|
11298456 |
2001 |
|
rs137853007
|
|
Malignant neoplasm of breast
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
The hCds1 (Chk2)-FHA domain is essential for a chain of phosphorylation events on hCds1 that is induced by ionizing radiation.
|
11390408 |
2001 |