Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.
|
11298456 |
2001 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
The high Ile(157)--> Thr(157)mutation frequency (6.5%) observed in healthy controls and the lack of other mutations suggest that CHK2 does not contribute significantly to the hereditary breast cancer or LFL-associated breast cancer risk, at least not in the Finnish population.
|
11461078 |
2001 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The hCds1 (Chk2)-FHA domain is essential for a chain of phosphorylation events on hCds1 that is induced by ionizing radiation.
|
11390408 |
2001 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Functional impact of concomitant versus alternative defects in the Chk2-p53 tumour suppressor pathway.
|
11571648 |
2001 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.
|
11719428 |
2001 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of tumor-associated Chk2 mutations.
|
11053450 |
2001 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Second, in breast cancer genetics, CHEK2 was identified as one of what are likely to be many low-penetrance breast cancer susceptibility genes.
|
12409647 |
2002 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, consistent with other studies, we show that germ-line mutations in Chk2 are unlikely to account for a significant proportion of non BRCA1-, non BRCA2-associated hereditary breast cancers.
|
11857075 |
2002 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
CTD_human |
This suggests that the biological mechanisms underlying the elevated risk of breast cancer in CHEK2 mutation carriers are already subverted in carriers of BRCA1 or BRCA2 mutations, which is consistent with participation of the encoded proteins in the same pathway.
|
11967536 |
2002 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2.
|
12049740 |
2002 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours.
|
12454775 |
2002 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This suggests that the biological mechanisms underlying the elevated risk of breast cancer in CHEK2 mutation carriers are already subverted in carriers of BRCA1 or BRCA2 mutations, which is consistent with participation of the encoded proteins in the same pathway.
|
11967536 |
2002 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The results suggest that CHEK2 acts as a low-penetrance tumor-suppressor gene in breast cancer and that it makes a significant contribution to familial clustering of breast cancer-including families with only two affected relatives, which are more common than families that include larger numbers of affected women.
|
12094328 |
2002 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To investigate if other CHEK2 variants confer an increased risk of breast cancer, we have screened an affected individual with breast cancer from 68 breast cancer families.
|
12454775 |
2002 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
The results suggest that CHEK2 acts as a low-penetrance tumor-suppressor gene in breast cancer and that it makes a significant contribution to familial clustering of breast cancer-including families with only two affected relatives, which are more common than families that include larger numbers of affected women.
|
12094328 |
2002 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that somatic CHK2 mutations are rare in breast cancer, but our results suggest a tumor suppressor function for CHK2 in a small proportion of breast tumors.
|
12052256 |
2002 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Karyopherin-alpha2 protein interacts with Chk2 and contributes to its nuclear import.
|
12909615 |
2003 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in CHEK2 associated with prostate cancer risk.
|
12533788 |
2003 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Autophosphorylation of checkpoint kinase 2 at serine 516 is required for radiation-induced apoptosis.
|
12855706 |
2003 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
CTD_human |
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.
|
12690581 |
2003 |
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in CHEK2 associated with prostate cancer risk.
|
12533788 |
2003 |