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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE We carried out a multicenter effort aimed at defining the prognostic impact of ATM mutational status in metastatic CRC (mCRC) patients. 30814645 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE DNA repair-targeting therapies, such as ATR and CHK1 inhibitors (which are most effective against cancers carrying ATM mutations), can be used in combination with current genotoxic chemotherapies in CRCs to further improve therapy response. 30714316 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE Inhibition of Ataxia-Telangiectasia Mutated and RAD3-Related (<i>ATR</i>) Overcomes Oxaliplatin Resistance and Promotes Antitumor Immunity in Colorectal Cancer. 30987998 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE There is increasing evidence that microRNAs (miRNAs) (i.e., miR-34a, miR-143, miR-153, miR-27a, miR-218, and miR-520) play an essential role in tumorigenesis and chemotherapy resistance, by targeting various cellular and molecular pathways (i.e., PI3K/Akt/Wnt, EMT, p53, p21, and ATM) that are involved in the pathogenesis of CRC. 31322820 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE After filtering, 15 pathogenic germline variants (9.9%) were found in 15 patients, arising from 9 genes of varying penetrance for colorectal cancer (APC (n = 2; 13%), ATM (n = 1; 6%), BRCA1 (n = 2; 13%), CDH1 (n = 2; 13%), CHEK2 (n = 4; 27%), MSH2 (n = 1; 7%), MSH6 (n = 1; 7%), NF2 (n = 1; 7%), and TP53 (n = 1; 7%)). 30730459 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE A hospital-based case-control study, including 1,121 cases and 1,056 controls was conducted to evaluate the association between eight selected single nucleotide polymorphisms (SNPs) (rs35514263 in <i>ATR</i>; rs492510, rs558351 in <i>CHKE1</i>; rs189037 in <i>ATM</i>; rs2236141, rs5762748, rs2236142 and rs9620817 in <i>CHEK2</i>) in ATR-CHEK1 and ATM-CHEK2 pathways and the risk of colorectal cancer in a Chinese population by using TaqMan method. 29928473 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE A Novel Inhibitor Targets Both Wnt Signaling and ATM/p53 in Colorectal Cancer. 30032112 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE Our analysis provides evidence for ATM and PALB2 as CRC-risk genes, underscoring the importance of the homologous recombination pathway in CRC. 29478780 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 PosttranslationalModification disease BEFREE We conducted a study analyzing the loss of ATM protein expression in colorectal cancer and correlated this with clinical outcomes. 30042009 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE Four hundred two patients (89.3%) had MMR-proficient tumors, and 32 patients (8%) had at least 1 gene mutation: 9 had mutations in high-penetrance CRC genes (5, APC; 1, APC/PMS2; 2, biallelic MUTYH; 1, SMAD4); 13 patients had mutations in high- or moderate-penetrance genes not traditionally associated with CRC (3, ATM; 1, ATM/CHEK2; 2, BRCA1; 4, BRCA2; 1, CDKN2A; 2, PALB2); 10 patients had mutations in low-penetrance CRC genes (3, APC c.3920T>A, p.I1307K; 7, monoallelic MUTYH). 27978560 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE Together our studies suggest that PARP inhibitors may have potential for treating colorectal cancer with ATM dysfunction and/or colorectal cancer with mutation of p53 when combined with an ATM kinase inhibitor. 28182994 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 AlteredExpression disease BEFREE There was a negative correlation between the expression of ATM mRNA and the degree of differentiation of colorectal cancer (r= -0.312, P=0.013), while expression level of ATM mRNA was not significantly correlated with the age, sex, tumor invasion, lymph node metastasis or clinical stage (P>0.05). 29344228 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE The regulatory mechanisms of DSB-induced autophagy were analyzed, focusing on the ATM-p53-mediated DNA damage response and AKT signaling in colorectal cancer cells. 28837154 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE Eight miRSNPs (rs1804191, rs397768, rs41116 in APC; rs1137918, s227091, rs4585 in ATM; rs712, rs1137282, rs61764370 in KRAS; rs8674 in PARP1 and rs16950113 in SMAD7) were tested for their association with CRC risk in a case-control study (1111 cases and 1469 healthy controls). 29048575 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE ATM mutations and E-cadherin expression define sensitivity to EGFR-targeted therapy in colorectal cancer. 28199979 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 AlteredExpression disease BEFREE Using TCGA database, we identified a significant reverse correlation of miR-203 and ATM expression in CRC tissues. 24145123 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 AlteredExpression disease BEFREE Expression of ATM was down-regulated in CRC tumors (p<0.0001) and inversely correlated with miR-18a expression (r = -0.4562, p<0.01). 23437304 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 PosttranslationalModification disease BEFREE These results suggest that bortezomib induces G2-M arrest through ROS-inducible ATM phosphorylation and demonstrate that bortezomib is a potential candidate for further investigations in the treatment for CRC patients. 22552540 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE Loss of ATM expression might serve as a biomarker of poor prognosis in colorectal cancer. 23154512 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE In contrast, distinct MIN-tumor-associated DNA amplifications were detected for E2F5 (8p22-q21.3), GARP (11q13.5-q14), ATM (11q22.3), KAL (Xp22.3), and XIST (Xq13.2) as well as DNA deletions for RAF1 (3p25), DCC (18q21.3), and KEN (21q tel). aCGH revealed distinct DNA copy number changes of oncogenes and tumor suppressor genes in CIN- and MIN-type sporadic colorectal carcinomas. 17143621 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). 17000706 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 Biomarker disease BEFREE In this study, using 6-thioguanine (6-TG) as a mismatch-inducing drug, we examine the role of ataxia telangiectasia mutated (ATM)/CHK2 and ATM and Rad-3 related (ATR)/CHK1 signaling pathways in MMR-mediated cell cycle responses in MMR-proficient human colorectal cancer RKO cells. 15367709 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE Our results suggest that ATM allelic imbalance and p53 gene mutations occur during the progression from diploid to aneuploid cell populations in multiploid colorectal carcinomas. 11593417 2001
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 GeneticVariation disease BEFREE Loss of heterozygosity at the ATM locus in colorectal carcinoma. 10203610 1999