ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease BEFREE We describe a contiguous gene deletion of the ATM locus in a multi-generation family of Italian descent with a strong family history of pancreatic cancer. 31671381 2020
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 Biomarker disease BEFREE We performed in vitro experiments using a total of ten human PC cell lines to evaluate anti-tumor effect of AZD1775 (WEE1 inhibitor) alone or combination with AZD0156 (ATM inhibitor). 31291716 2020
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 Biomarker disease BEFREE Zhang and colleagues demonstrate that inhibiting DNA repair by pharmacologic blockade or siRNA silencing of ataxia telangiectasia mutated (ATM) increases type I IFN release via a cGAS/STING-independent, SRC-dependent mechanism in models of pancreatic cancer. 31371279 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease BEFREE We conclude that pancreatic cancers in patients with germline ATM pathogenic variants are more frequently of colloid (mucinous non-cystic) morphology but are overall morphologically diverse supporting the utility of universal germline genetic testing for patients with pancreatic cancer. 31285527 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 Biomarker disease BEFREE SIGNIFICANCE: This study demonstrates that ATM inhibition induces a T1IFN-mediated innate immune response in pancreatic cancer that is further enhanced by radiation and leads to increased sensitivity to anti-PD-L1 therapy.<i>See related commentary by Gutiontov and Weichselbaum, p. 3815</i>. 31101760 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 AlteredExpression disease BEFREE Further analysis of pancreatic cancer gene chip found OCIAD1 high expression was associating with low ATM expression. 31221523 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 Biomarker disease BEFREE Overall, the <i>in vitro</i> data confirmed that down-expression of PARP-1 suppressed cell proliferation and induced apoptosis of pancreatic cancer via ATM-deficient p53 signaling pathway. 29434894 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease BEFREE Comparing 3030 case patients with pancreatic cancer (43.2% female; 95.6% non-Hispanic white; mean age at diagnosis, 65.3 [SD, 10.7] years) with reference controls, significant associations were observed between pancreatic cancer and mutations in CDKN2A (0.3% of cases and 0.02% of controls; odds ratio [OR], 12.33; 95% CI, 5.43-25.61); TP53 (0.2% of cases and 0.02% of controls; OR, 6.70; 95% CI, 2.52-14.95); MLH1 (0.13% of cases and 0.02% of controls; OR, 6.66; 95% CI, 1.94-17.53); BRCA2 (1.9% of cases and 0.3% of controls; OR, 6.20; 95% CI, 4.62-8.17); ATM (2.3% of cases and 0.37% of controls; OR, 5.71; 95% CI, 4.38-7.33); and BRCA1 (0.6% of cases and 0.2% of controls; OR, 2.58; 95% CI, 1.54-4.05). 29922827 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease BEFREE Results Thirty-three (3.9%; 95% CI, 3.0% to 5.8%) of 854 patients with pancreatic cancer had a deleterious germline mutation, 31 (3.5%) of which affected known familial pancreatic cancer susceptibility genes: BRCA2 (12 patients), ATM (10 patients), BRCA1 (3 patients), PALB2 (2 patients), MLH1 (2 patients), CDKN2A (1 patient), and TP53 (1 patient). 28767289 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 Biomarker disease BEFREE ATM-deficiency increases genomic instability and metastatic potential in a mouse model of pancreatic cancer. 28894253 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 Biomarker disease BEFREE Pancreatic cancer ATM status may help predict response to radiotherapy. 28453388 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 AlteredExpression disease BEFREE Our data suggest an intimate link between ATM expression and pancreatic cancer progression in mice and men. 26220524 2015
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 Biomarker disease BEFREE Tumoral loss of ATM protein was detected more often in patients with a family history of pancreatic cancer than in those without. 24486587 2014
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease BEFREE To date, epidemiological studies have assessed the association between Ataxia-telangiectasia mutated (ATM) gene polymorphisms and cancer risk, including lung cancer, breast cancer, glioma and pancreatic cancer. 22203481 2012
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease BEFREE A statistically significant interaction of ATM D1853N and LIG4 C54T genotype with diabetes on the risk of pancreatic cancer was also detected. 19147782 2009
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease BEFREE Single nucleotide polymorphisms of RecQ1, RAD54L, and ATM genes are associated with reduced survival of pancreatic cancer. 16520463 2006
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease BEFREE Other hereditary disorders predisposing to PC include Peutz-Jeghers syndrome, due to the STK11 mutation, familial pancreatitis due to the cationic trypsinogen gene, site-specific familial pancreatic cancer which may be due to the 4q32-34 mutation, hereditary breast-ovarian cancer (HBOC) syndrome that is due to BRCA2 and possibly some families with HBOC that is due to BRCA1 , familial adenomatous polyposis due to the ATP gene, and ataxia telangiectasia due to the ATM germline mutation. 15516847 2004