|
Adult Hodgkin Lymphoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Presence of any alteration within the analyzed region of the CHEK2 gene was associated with increased risk of HL development (OR = 2.11; 95% CI = 1.08 - 4.13; p= 0.04).
|
21744992 |
2011 |
|
Adult Meningioma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We show that enforced Chk2 knockdown in meningioma cells decreases DNA repair.
|
22355270 |
2012 |
|
Adult Myelodysplastic Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In patients newly diagnosed with myelodysplastic syndrome (MDS, n = 107) or acute myeloid leukemia (AML, n = 117) congenital CHEK2 mutations (c.444 + 1G > A, c.1100delC, del5395, p.I157 T) were tested by PCR and sequencing analysis.
|
29902706 |
2018 |
|
Adult Non-Hodgkin Lymphoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma.
|
26506619 |
2015 |
|
Adult Rhabdomyosarcoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
After reviewing the literature about the natural history of the LFS 2, the incidence of second malignancy (SMN) in RMS survivors 3-6 and the management of extremity RMS 7-9, we are concerned that contemporary RMS treatment, combining non-mutilating surgery with chemoradiotherapy, may be associated with an excessive SMN risk in LFS patients with advanced RMS.
|
16534790 |
2007 |
|
Alkaline phosphatase raised
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Alzheimer's Disease
|
0.020 |
Biomarker
|
disease |
BEFREE |
Since accumulation of DNA damage has been detected in the brains of AD patients, our results suggest that the DNA damage-activated kinases Chk1 and Chk2 may be involved in tau phosphorylation and toxicity in the pathogenesis of AD.
|
20159774 |
2010 |
|
Alzheimer's Disease
|
0.020 |
PosttranslationalModification
|
disease |
BEFREE |
Using recombinant human tau phosphorylated by Chk1 and Chk2 in vitro, we first analyzed tau phosphorylation at the AD-related sites by Western blot with phospho-tau-specific antibodies.
|
23550703 |
2013 |
|
Anatomic Stage III Breast Cancer AJCC v8
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Alternative splicing and mutation status of CHEK2 in stage III breast cancer.
|
15361853 |
2004 |
|
Anatomic Stage III Breast Cancer AJCC v8
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Here, we explored the predictive and prognostic value of TP53 and CHEK2 mutation status together with MDM2 SNP309 genotype in stage III breast cancer patients receiving paclitaxel or epirubicin monotherapy.
|
21556366 |
2011 |
|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Rare truncating BRCA2 K3326X (rs11571833) and pathogenic CHEK2 rs17879961" genes_norm="11200">I157T (rs17879961) variants have previously been implicated in familial pancreatic ductal adenocarcinoma (PDAC), but not in sporadic cases.
|
30672594 |
2019 |
|
Ataxia
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
CHK2 acts downstream of ataxia teleangiecstasia mutated (ATM), modulates the function of p53 and may help mediate cell cycle arrest at G2/M by phosphorylation of Cdc25C.
|
11699418 |
2001 |
|
Ataxia Telangiectasia
|
0.070 |
Biomarker
|
disease |
BEFREE |
These data establish CHK2 as essential for DNA damage surveillance in female meiosis and indicate that the oocyte DSB damage response primarily involves a pathway hierarchy in which ataxia telangiectasia and Rad3-related (ATR) signals to CHK2, which then activates p53 and p63.
|
24482479 |
2014 |
|
Ataxia Telangiectasia
|
0.070 |
Biomarker
|
disease |
BEFREE |
The expression of p21, Puma and Sesn2 was determined in blood from mice with different gene copy numbers of Atm, Trp53 (p53), Chek2 or Arf and in human blood and mitogen stimulated T-lymphocyte (MSTL) cultures from AT, AT carriers, LFS patients, and controls, both before and after ex vivo ionizing irradiation.
|
21389785 |
2011 |
|
Ataxia Telangiectasia
|
0.070 |
AlteredExpression
|
disease |
BEFREE |
CHK-2 is activated by the PIP3-kinase-like kinases (PI3KKs) ataxia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related protein (ATR), and in metazoan also by DNA-dependent protein kinase catalytic subunit (DNA-PKcs).
|
31413202 |
2019 |
|
Ataxia Telangiectasia
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
To increase the efficacy of these treatments, inhibitors of the major components of the DDR such as ATM (ataxia telangiectasia mutated), ATR (ATM and Rad3-related), DNA-PK (DNA-dependent protein kinase, catalytic subunit), Chk1 (checkpoint protein 1) and Chk2 (checkpoint protein 2) have been used to confer radio- and/or chemosensitivity upon cancer cells.
|
23107892 |
2013 |
|
Ataxia Telangiectasia
|
0.070 |
Biomarker
|
disease |
BEFREE |
The S-phase checkpoint kinase and telomere maintenance factor Tel1, a homolog of the human ataxia telangiectasia (ATM) protein, prevents these translocations, whereas the checkpoint kinase Mec1, a homolog of the human ATM-related protein, and the Rad53 checkpoint kinase are not required.
|
16809776 |
2006 |
|
Ataxia Telangiectasia
|
0.070 |
Biomarker
|
disease |
BEFREE |
ITCs induced DNA double-strand breaks and enhanced the phosphorylation of histone H2AX, ataxia telangiectasia and Rad3-related protein (ATR) and checkpoint kinase-2 (CHK2).
|
23770684 |
2013 |
|
Ataxia Telangiectasia
|
0.070 |
AlteredExpression
|
disease |
BEFREE |
We demonstrate that PML interacts with Chk2 and activates Chk2 by mediating its autophosphorylation step, an essential step for Chk2 activity that occurs after phosphorylation by the upstream kinase ATM (ataxia telangiectasia-mutated).
|
16835227 |
2006 |
|
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
bilateral breast cancer
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our results imply that clinical management of the daughter of a woman with bilateral breast cancer should depend on her CHEK2 1100delC carrier status.
|
19124502 |
2009 |
|
Bladder Neoplasm
|
0.210 |
GeneticVariation
|
disease |
LHGDN |
We conclude that CHEK2 mutations increase the risk of bladder cancer in the population.
|
17918154 |
2008 |
|
Bladder Neoplasm
|
0.210 |
Therapeutic
|
disease |
RGD |
Paeonia lactiflora Pall inhibits bladder cancer growth involving phosphorylation of Chk2 in vitro and in vivo.
|
21396995 |
2011 |
|
Bladder Neoplasm
|
0.210 |
GeneticVariation
|
disease |
BEFREE |
We conclude that CHEK2 mutations increase the risk of bladder cancer in the population.
|
17918154 |
2008 |
|
Bloom Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Endogenous gamma-H2AX-ATM-Chk2 checkpoint activation in Bloom's syndrome helicase deficient cells is related to DNA replication arrested forks.
|
17634426 |
2007 |