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 CausalMutation disease CLINVAR
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 AlteredExpression disease BEFREE ATM protein expression was analyzed by immunohistochemistry in 17 breast carcinomas with two monoclonal antibodies whose immunohistochemical use was first validated by comparing the immunoreactivity observed in spleen samples from ataxia telangiectasia and trauma patients. 10999741 2000
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE Tumours with low ATM or high ATR levels in conjunction with MYC overexpression also have worse overall breast cancer-specific survival (BCSS) (p value < 0.05). 30746633 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE The aim of this study was to investigate ATM expression in breast carcinomas and its relationship to neoangiogenesis. 16329039 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE Reduced expression of ATM and MSH2 compromises DNA repair capacity and, thereby, increases breast cancer prevalence. 27466510 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE As BRCA1 and BRCA2 are also components of the genome maintenance network and their mutations predispose to breast cancer, we have examined the ATM expression in human breast carcinomas of BRCA1/2 mutation carriers, sporadic cases and familial non-BRCA1/2 patients. 17982490 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE ATM was activated in 45% of normal tissue samples, 70% of preneoplastic lesions, and 14% of breast carcinomas. 19884805 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE No evidence was found that the reduction in ATM protein levels seen in breast carcinoma is the result of epigenetic silencing. 17593081 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE Our findings suggest that Triptolide specifically chemosensitizes breast cancer cells to Doxorubicin prior to apoptosis initiation through downregulating ATM expression and inhibiting DNA damage response. 29500880 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE This increase was not related to the constitutive ATM mRNA level, which was similar in these BC and the normal cell lines. 15101044 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE On the basis of the clinical data, we conducted siRNA knockdown to study the role of ERα on ATM expression in breast cancer cell lines. 23857602 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE Although sporadic mutation of ATM occurs rarely in breast cancer, the status of its protein expression and its clinical significance in breast cancer remain not well established. 25935535 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE The ATM gene expression was down-regulated in breast cancer tissues and a high ATM gene expression level in breast cancer tissue was associated with a favorable prognosis. 17366603 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE The data suggest that ATM protein expression is an independent prognostic marker in sporadic BC. 24285016 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE Loss of ATM expression or inhibiting oxidized ATM kinase activity reduced breast cancer cell migration and invasion. 30562756 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 AlteredExpression disease BEFREE Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. 21792198 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.500 PosttranslationalModification disease BEFREE This high rate of somatic inactivation of ATM may indicate either that these rare variants play a role in breast cancer development or alternatively that a neighboring tumor suppressor gene is important for tumorigenesis. 10534763 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 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 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 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 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