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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Although not significant (p = 0.045; chi 2 test), some sporadic breast carcinomas (14 of 42) also had reduced or absent ATM protein immunoreactivity. 10748873 1999
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE In summary, our data show that ATM and p53 coordinately regulate FOXM1 via E2F to modulate epirubicin response and resistance in breast cancer. 21518729 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE Development of a biologically active monoclonal antibody (6313/G2) against the AT1 receptor prompted the testing of a recombinant short-chain variable fragment form (R6313/G2) against breast cancer cells in vitro and in vivo. 18310294 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE ATM mutation prevalence in Spanish population highlights the importance of considering ATM pathogenic variants linked to breast cancer susceptibility. 27913932 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE Immunohistochemical analysis included nuclear exclusion of FOXO3 as a marker of follicle activation, γH2AX as a marker of DNA damage, meiotic recombination 11 (MRE11), ataxia telangiectasia mutated (ATM), Rad51, breast cancer susceptibility 1 (BRCA1) and breast cancer susceptibility 2 (BRCA2) as DNA repair factors. 30521029 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Breast cancer in female carriers of ATM gene alterations: outcome of adjuvant radiotherapy. 15450731 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker 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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE Low nuclear ATM protein level was significantly associated with aggressive breast cancer including larger tumors, higher tumor grade, higher mitotic index, pleomorphism, tumor type, lymphovascular invasion, estrogen receptor (ER)-, PR -, AR -, triple-negative, and basal-like phenotypes (Ps < .05). 25425972 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Significant association to BC predisposition was observed for <i>ATM, PALB2, TP53, RAD51C</i> and <i>CHEK2</i> PVs. 31300551 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Recently, large epidemiological and molecular studies have finally provided conclusive evidence that ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. 16998505 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Mutations in BRCA1 and BRCA2 account for approximately 50% of breast cancer families with more than four affected cases, whereas exonic mutations in p53, PTEN, CHK2 and ATM may account for a very small proportion. 11597326 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Breast cancer occurring in carriers of ATM variants is not associated with distinctive histopathological features and does not resemble the tumour phenotype commonly observed in BRCA1 mutation carriers. 17064299 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE We estimated the cumulative risk of BC in heterozygous ATM mutation carriers to be 6.02% by 50 years of age (95% credible interval: 4.58-7.42%) and 32.83% by 80 years of age (95% credible interval: 24.55-40.43%). 27112364 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Our results indicate that ATM D1853N polymorphism is not a risk factor for developing breast cancer. 20799949 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE We have determined the spectrum and frequency of ATM missense variants in 443 breast cancer patients diagnosed before age 50, including 247 patients who subsequently developed CBC. 17393301 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE ATM, a serine-threonine kinase, controls the cellular response to DNA double-strand breaks, and has been implicated in breast cancer risk. 18701470 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE This study suggested that some antioxidant vitamins intake may modify the effect of ATM diplotype on the breast cancer risk among Korean women. 21058196 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE In this large combined analysis, these five missense ATM SNPs were associated with a small increased risk of breast cancer, explaining an estimated 0.03% of the excess familial risk of breast cancer. 20826828 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10<sup>-5</sup>), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10<sup>-8</sup>) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). 27595995 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Since c.7271T>G is only one of many rare ATM variants predicted to have deleterious consequences on protein function, an effective means of identifying and grouping these variants is essential to assess the contribution of ATM variants to individual risk and to the incidence of breast cancer in the population. 16958054 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE In summary, the meta-analysis suggest that ATM 5557G>A polymorphism is associated with increased breast cancer risk among Amerindians. 21603857 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE Several epidemiological studies on ataxia-telangiectasia families indicate that obligate ATM heterozygotes display an elevated risk for developing breast cancer. 15516988 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE We conclude that heterozygous ATM mutations do not confer genetic predisposition to early onset of breast cancer. 9054948 1997
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 GeneticVariation disease BEFREE For the ATM IVS1+19A>T polymorphism, a significant association with breast cancer risk was found in the allele contrast model (C vs. T: OR = 1.60; 95% CI 1.02-2.52). 20665102 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 Biomarker disease BEFREE Testing for the ATM gene is unlikely to be useful for predicting clinical response to radiotherapy in breast cancer patients. 9683358 1998