MGMT, O-6-methylguanine-DNA methyltransferase, 4255

N. diseases: 444; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma
0.510 GeneticVariation disease BEFREE Our data indicate, that in addition to the histological and immunohistochemical evaluation, investigation of MGMT promoter methylation and in particular BRAF V600E mutations represent reliable additional tools to sustain differentiation of gcGBM from PXA on a molecular basis. 27253461 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.400 GeneticVariation group BEFREE Recently, aberrant methylation of MLH1, MGMT and MSI were shown to be associated with mutations in genes such as BRAF, RAS and IDH1 in colon and brain tumours. 23414134 2013
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.400 GeneticVariation group BEFREE Surveillance, Epidemiology, and End Results (SEER) registries currently collect data on specific required factors related to brain tumors as defined by the American Joint Commission on Cancer, including World Health Organization (WHO) grade, MGMT methylation and 1p/19q codeletion status. 27418206 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.400 GeneticVariation group LHGDN We found a significantly increased frequency of G:C to A:T mutations of the p53 gene in brain tumors having a methylated MGMT promoter compared with those having an unmethylated MGMT promoter (P < 0.05), and all the non-CpG dinucleotide G:C to A:T mutations of p53 were in samples with a methylated MGMT promoter. 12503076 2003
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.400 GeneticVariation group BEFREE We found a significantly increased frequency of G:C to A:T mutations of the p53 gene in brain tumors having a methylated MGMT promoter compared with those having an unmethylated MGMT promoter (P < 0.05), and all the non-CpG dinucleotide G:C to A:T mutations of p53 were in samples with a methylated MGMT promoter. 12503076 2003
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.400 GeneticVariation group BEFREE By removing alkyl groups from the O6-position in guanine, MGMT can prevent G:C to A:T transition mutations, a type of variation frequently involving TP53 mutations in brain tumors. 15450401 2004
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.400 GeneticVariation group BEFREE Human malignant gliomas (glioblastomas and anaplastic astrocytomas) are the most frequent brain tumors and are associated with a variety of genetic alterations including retinoblastoma (RB) and p53 gene mutations, loss of interferon alpha and beta (IFNA, IFNB) genes and lack of O6-methylguanine-DNA methyltransferase (MGMT) expression. 1501894 1992
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE Methylation of the MGMT promoter correlated with better PFS and OS after GKS for recurrent GBM. 28536992 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE Combined Therapy Sensitivity Index Based on a 13-Gene Signature Predicts Prognosis for IDH Wild-type and MGMT Promoter Unmethylated Glioblastoma Patients. 31632497 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE There is no consensus recommendation regarding the best available treatment for patients over age 70 with glioblastoma; however, multiple studies have shown molecular characterization of glioblastoma in this group-particularly MGMT promoter methylation status-to be valuable in treatment decision making. 28620898 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE The pathological diagnosis was glioblastoma (GBM) with unmethylated O-6-methylguanine-DNA methyltransferase promoter and wild isocitrate dehydrogenase 1 gene. 23053494 2013
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE The standard deviation (SD) of rCBV was significantly higher in glioblastoma (GBM) with methylated O6-methylguanine DNA methyltransferase (MGMT; 1.99 ± 0.73; p = 0.001) than in those with unmethylated MGMT (1.20 ± 0.45). 29468261 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE Although this data is from a retrospective analysis using small number of patients, the study might indicate that concomitant use of temozolomide with radiotherapy is a crucial step in the standard treatment for glioblastoma patients with MGMT promoter methylation. 23377829 2013
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE Carriage of the T allele was associated with a significantly elevated risk of developing glioblastoma (adjusted odds ratio, 1.96; P = .013), increasing further when glioblastoma was classified by the presence of MGMT methylation (adjusted odds ratio, 2.86; P = .001). 25910840 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE Clinical data (age, sex, extent of surgical resection), O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation status and pre-operative T2WI of 113 pathologically confirmed glioblastoma patients (from our institution, n = 61; from the Cancer Imaging Archive, n = 52) were retrospectively reviewed. 31150499 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE On the other hand, glioblastomas with unmethylated MGMT promoters exhibited a wide range of MGMT mRNA expression. 22674304 2012
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE We discovered that RARRES1 is highly expressed in patients with mesenchymal subtype, unmethylated MGMT, IDH1 wild type, and non-G-CIMP, all of which are molecular characteristics of malignant GBM. 31632537 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE Immunohistochemical assessment of MGMT expression and p53 mutation in glioblastoma multiforme. 21528672 2011
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE 55 glioblastomas were investigated for MGMT methylation status using methylation-specific multiplexed ligation probe amplification (MS-MLPA), illumina human methylation 450K BeadChip array (HM450 K) analysis, and compared to MGMT protein expression by immunohistochemistry (IHC) staining. 26289551 2016
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE Pseudoprogression (PsP) occurs at a higher rate in glioblastoma multiforme with a methylated MGMT promoter-a subset with increased sensitivity to chemoradiotherapy and better overall prognosis. 24285548 2014
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE We applied real-time semi-quantitative methylation-specific polymerase chain reaction (SQ-MSP) of the MGMT gene promoter region to 84 glioblastoma patients. 29963232 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE The methylation status of the methylguanine methyltransferase (MGMT) promoter has been associated with treatment response in glioblastoma. 24949678 2014
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE Glioblastoma (51.52%) was the commonest astrocytic tumor with 74.67% of them being isocitrate dehydrogenase 1 (IDH1) negative and 41.38% with O (6)-methylguanine DNA methyltransferase (MGMT) promoter methylated. 29730791 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE Patients with glioblastoma containing a methylated MGMT promoter benefited from temozolomide, whereas those who did not have a methylated MGMT promoter did not have such a benefit. 15758010 2005
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.400 GeneticVariation disease BEFREE Temozolomide concomitant and adjuvant to radiotherapy in elderly patients with glioblastoma: correlation with MGMT promoter methylation status. 19514084 2009