Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We estimate that the CHEK2 1100delC allele is associated with an odds ratio of 2.6 for breast cancer, which corresponds to a lifetime risk of approximately 24% in Ontario.
|
18381420 |
2008 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Among women with a CHEK2-positive breast cancer, the adjusted hazard ratio associated with ER-positive status was 0.88 (95 % CI 0.48-1.62).
|
24557336 |
2014 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.
|
27751358 |
2016 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.
|
17428325 |
2007 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The main goal of this study was to evaluate and to compare the role of truncating mutations, splice junction mutations and rare missense substitutions in breast cancer susceptibility gene CHEK2.
|
24390236 |
2014 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genes in the ATM-CHK2-TP53 cell-cycle checkpoint pathway are mutated in relation to breast cancer, particularly TP53 at the somatic level.
|
15645010 |
2004 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This biological make-up of CHEK2 1100delC breast cancers suggests that a relatively limited number of additional susceptibility alleles are involved in the polygenic CHEK2 model.
|
21614566 |
2012 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A 1100delC mutation in CHEK2 (previously known as CHK2), a cell-cycle checkpoint kinase, has been implicated in predisposition of Li-Fraumeni syndrome (LFS) and breast cancer in families suggestive of LFS.
|
14648717 |
2004 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, the CHEK 2 gene, involved in DNA damage and replication checkpoints, has been pointed out as a good candidate; moreover, a specific variant in this gene,1100delC, has been found to increase breast cancer susceptibility among familial breast cancer cases not attributable to mutations in BRCA1 or BRCA2 genes.
|
14618615 |
2004 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland.
|
16897426 |
2007 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our results suggest that pCHK2-Thr68 and pCDC25C-Ser216 play important roles in breast cancer and may be potential treatment targets.
|
27801830 |
2016 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
The role of CHEK2 in DNA repair by homologous recombination suggests that CHEK2-associated breast cancer (BC) patients might be more sensitive to chemotherapy inducing double-strand DNA breaks, but results hereon are lacking.
|
25958056 |
2015 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
The CHEK2 gene and its encoded protein Chk2 have a well-known role in cancers, especially those related to breast cancer mediated through the BRCA1 gene.
|
30633282 |
2019 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Increased breast cancer risk (hazard ratio (HR) 2.0 (95% confidence interval (CI): 1.4-2.7), p<0.001) was observed in sisters of CHEK2∗1100delC positive index cases compared to sisters of CHEK2∗1100delC negative index cases.
|
23415889 |
2013 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The 1100delC mutation of the CHEK2 gene was found to be a cause of breast cancer in 2002.
|
20597917 |
2010 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
The variations of CCND1, Rb1, and CHEK2 were significantly correlated with poor survival in the young breast cancer patient group, while the amplification of c-Myc was not obviously correlated with poor survival in young breast cancer patients.
|
24621502 |
2014 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Through mutational analyses in 7325 individuals, we report four interactions (defined as departures from a multiplicative model) between mutations in the breast cancer susceptibility genes ATM and CHEK2 with BRCA1 and BRCA2 (case-only interaction between ATM and BRCA1/BRCA2 combined, P = 5.9 × 10(-4); ATM and BRCA1, P= 0.01; ATM and BRCA2, P= 0.02; CHEK2 and BRCA1/BRCA2 combined, P = 2.1 × 10(-4); CHEK2 and BRCA1, P= 0.01; CHEK2 and BRCA2, P= 0.01).
|
22072393 |
2012 |
Malignant neoplasm of breast
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
CHEK2 protein expression was reduced in 21.1% of the unselected breast cancers studied.
|
15472904 |
2005 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To test this hypothesis, we investigated 1406 ER(+) early-stage breast cancers with 20 years' long-term clinical follow-up data for DNA polymerase β (pol β), flap endonuclease 1 (FEN1), AP endonuclease 1 (APE1), X-ray cross-complementation group 1 protein (XRCC1), single-strand monofunctional uracil glycosylase-1 (SMUG1), poly (ADP-ribose) polymerase 1 (PARP1), ataxia telangiectasia mutated and Rad3 related (ATR), ataxia telangiectasia mutated (ATM), DNA-dependent protein kinase catalytic subunit (DNA-PKcs), Chk1, Chk2, p53, breast cancer susceptibility gene 1 (BRCA1), and topoisomerase 2 (TOPO2) expression.
|
25111287 |
2014 |
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Thus, it can be concluded that a predisposing mutation in BRCA1, BRCA2, CHEK2 or PALB2 is present in approximately 6% of French-Canadian women with early-onset breast cancer.
|
19863560 |
2009 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk.
|
25619829 |
2015 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, five moderate-risk breast cancer susceptibility genes have been convincingly identified: CHEK2, ATM, BRIP1, PALB2, and NBS1.
|
20346647 |
2010 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Previously, another CHEK2 mutation, the protein truncating c.1100delC has been associated with poor prognosis of breast cancer patients.
|
27716369 |
2016 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BRCA1 and CHEK2 contributed in approximately equal measure to the burden of breast cancer in Poland.
|
15980987 |
2005 |
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Protein-truncating mutations in CHEK2 have been reported to confer higher risks of cancer of the breast and the prostate than the missense I157T variant.
|
17106448 |
2007 |