CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 Biomarker disease BEFREE The purpose of this article is to provide a review of principles of genetic testing in prostate cancer and highlight the significance of clinical genetic testing of BRCA1/2 and other genes (CHEK2, HOXB13, PALB2), including Lynch syndrome genes (MLH1, MSH2, MSH6, and PMS2) in men with metastatic prostate cancer. 30681994 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 Biomarker disease BEFREE A number of germline mutations in DNA damage repair genes ( BRCA1, BRCA2, CHEK2, ATM and PALB2) and in DNA mismatch repair genes ( MLH1, MSH2, MSH6 and PMS2) can drive the development of prostate cancer. 30730411 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE We found monoallelic truncating/functionally deleterious mutations in seven genes, including ATM and CHEK2, which have previously been associated with PrCa predisposition, and five new candidate PrCa associated genes involved in cancer predisposing recessive disorders, namely RAD51C, FANCD2, FANCI, CEP57 and RECQL4. 29659569 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE No association was found between CHEK2 mutation status and early-diagnosis or PCa-specific survival time. 29520813 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. 27595995 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 Biomarker disease BEFREE In conclusion, we propose that CHK2 is a negative regulator of androgen sensitivity and prostate cancer growth, and that CHK2 signaling is lost during prostate cancer progression to castration resistance. 26573794 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 Biomarker disease BEFREE Repurposing of nitroxoline as a potential anticancer agent against human prostate cancer: a crucial role on AMPK/mTOR signaling pathway and the interplay with Chk2 activation. 26447757 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE CHEK2 is a multi-cancer susceptibility gene whose common germline mutations are known to contribute to the risk of developing breast and prostate cancer. 24986639 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE Mutations in CHEK2 have been associated with cancers at many sites, including breast and prostate cancers, but the relationship between CHEK2 and gastric cancer has not been extensively studied. 23296741 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE These results suggest that testing for germline CHEK2 mutations improves the ability to predict the presence of prostate cancer in screened men, however, the clinical utility of incorporating DNA variants in the screening process is marginal. 23722471 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE To establish the contribution of eight founder alleles in three DNA damage repair genes (BRCA1, CHEK2 and NBS1) to prostate cancer in Poland, and to measure the impact of these variants on survival among patients. 23149842 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 Biomarker disease BEFREE To investigate whether it plays an important role in the development of prostate cancer (PRCA) in the Ashkenazi Jewish (AJ) population, we sequenced CHEK2 in 75 AJ individuals with prostate, breast, or no cancer (n=25 each). 18571837 2008
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE Intriguingly, two other CHEK2 mutations (IVS2+1G>A and I157T) and a CHEK2 large genomic deletion (del9-10) have been associated with an elevated risk for prostate cancer. 17661168 2008
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE Germline mutations in CHEK2 have been associated with a range of cancer types but little is known about disease risks conveyed by CHEK2 mutations outside of the context of breast and prostate cancer. 17918154 2008
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 PosttranslationalModification disease BEFREE In addition, heat treatment induced the phosphorylation of Chk2 proteins examined and led to apoptosis in the prostate cancer cells. 18507002 2008
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE Modest effects on prostate cancer risk were observed for both CHEK2 missense and truncating variants. 17372254 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE Our data suggest that the CHEK2 and TP53 mutations can substitute each other in at least 25% (21/84) of prostate cancers and that DNA damage-signaling pathway plays an important role in prostate cancer tumorigenesis. 16941491 2006
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 Biomarker disease BEFREE Taken together, these results provide evidence that both germline and somatic CHEK2 mutations identified in prostate cancer may contribute to the development of prostate cancer through the reduction of CHEK2 activation in response to DNA damage and/or oncogenic stress. 16835864 2006
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE A large deletion of exons 9 and 10 of CHEK2 confers an increased risk of prostate cancer in Polish men. 17085682 2006
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 Biomarker disease BEFREE Germ line mutations in several genes (BRCA1, BRCA2, and CHEK2) whose products are involved in the DNA damage-signaling pathway have been implicated in prostate cancer risk. 17079449 2006
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE The relatives of bilateral cases who were wild-type for CHEK2 had three times the population risk of female breast cancer (145 cases: SIR 3.48 (95% CI 2.96-4.09), twice the risk of prostate cancer (34 cases: SIR 2.41, 1.67-3.36) and a large excess of male breast cancer (five cases: SIR 15.06, 4.92-35.36). 16257342 2005
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE The risk of prostate cancer is known to be elevated in carriers of germline mutations in BRCA2, and possibly also in carriers of BRCA1 and CHEK2 mutations. 15280931 2004
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE Our results provide evidence that the two truncating mutations of CHEK2 confer a moderate risk of prostate cancer in Polish men and that the missense change appears to confer a modest risk. 15087378 2004
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE A single founder allele of the CHEK2 gene has been associated with predisposition to breast and prostate cancer in North America and Europe. 15492928 2004
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE Overall, our data suggest that mutations in CHEK2 may contribute to prostate cancer risk and that the DNA-damage-signaling pathway may play an important role in the development of prostate cancer. 12533788 2003