EP300, E1A binding protein p300, 2033

N. diseases: 345; N. variants: 48
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 AlteredExpression disease BEFREE The results indicated that MVs have a size range of 500-1500 nm, and the viability of MCF-7 was significantly decreased when treated by different concentrations of MVs and it was confirmed when apoptosis-related genes' expression level was measured by real-time reverse transcription polymerase chain reaction whereas demonstrated that apoptosis genes including Bax, P53, P21, and EP300 (2<sup>- ΔΔ CT</sup>) and ΔCT values were expressed significantly in MCF-7 treated by MVs higher than those nontreated, and decrease of Bcl-2 expression level in MVs-treated MCF-7 was also significant as an antiapoptosis-related gene. 31603120 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 Biomarker disease BEFREE We generated a breast cancer cell model to study E-cadherin-independent effects of EP300 by over-expression of EP300 in HS578T cells which have E-cadherin promoter hypermethylated. 30862505 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 Biomarker disease BEFREE EP300 and SIRT1/6 Co-Regulate Lapatinib Sensitivity Via Modulating FOXO3-Acetylation and Activity in Breast Cancer. 31357743 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 AlteredExpression disease BEFREE Although PARP1 was found at BRG1 positive/H3K27ac negative promoters of highly expressed genes in a transformed breast cancer cell line, its transcriptional activity was limited to genes simultaneously controlled by BRG1 and EP300, indicating that the ADP-ribosylation of EP300 plays a dominant role in the regulation of BRG1-EP300-driven transcription. 31614656 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 AlteredExpression disease BEFREE Treatment of MDA-MB-453 with CREBBP/EP300 bromodomain inhibitors downregulates the expression of an AR-dependent signature distinctive of breast cancer tumors that express AR and causes a decrease in H3K27ac levels at AR-binding sites. 30606771 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation disease BEFREE Interestingly, the EP300-G211S mutation also predicted a lower risk for relapses and decreased breast cancer-specific mortality during long-term follow-up of the patients. 30132219 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 AlteredExpression disease BEFREE Correction to: Tumour suppressor EP300, a modulator of paclitaxel resistance and stemness, is downregulated in metaplastic breast cancer. 29305809 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 AlteredExpression disease BEFREE This work demonstrated the potential anti-cancer effects of Andro, indicating that Andro could inhibit COX-2 expression through attenuating p300 HAT activity and suppress angiogenesis via VEGF pathway, and thereby could be developed as an antitumor agent for the treatment of breast cancer. 30314513 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 Biomarker disease BEFREE EP300 plays a major role in the reprogramming events, leading to a more malignant phenotype with the acquisition of drug resistance and cell plasticity, a characteristic of metaplastic breast cancer. 28341962 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 Biomarker disease CTD_human The oncoprotein HBXIP modulates the feedback loop of MDM2/p53 to enhance the growth of breast cancer. 26229107 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation disease BEFREE We hypothesized that germline mutations in EP300 may account for some breast cancer families that include cases of gastric, pancreatic and/or colorectal cancer. 15217503 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 GeneticVariation disease UNIPROT
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 CausalMutation disease CGI
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.640 AlteredExpression disease BEFREE The present study aimed to determine the expression levels of EP300, TP53 and BAX in colorectal cancer (CRC) and to investigate their prognostic value and association with the progression of CRC. 28586030 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.640 CausalMutation disease CLINVAR From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. 26486927 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.640 AlteredExpression disease BEFREE In the immunohistochemistry study, loss of E1A-binding protein p300 expression was identified in 12% and 24% of the gastric and colorectal cancers, respectively, irrespective of microsatellite instability status. 23759652 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.640 GeneticVariation disease BEFREE We screened the entire coding region of EP300 for mutations in the youngest affected members of 23 non-BRCA1/BRCA2 breast cancer families with at least one confirmed case of gastric, pancreatic and/or colorectal cancer. 15217503 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.640 GeneticVariation disease BEFREE Missense mutations of p300 gene were detected in a colorectal carcinoma, and in a gastric carcinoma, though no mutation of NF2 gene was detected. 8622873 1996
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.640 Biomarker disease CTD_human
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.640 GeneticVariation disease UNIPROT
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 AlteredExpression disease BEFREE The results indicated that MVs have a size range of 500-1500 nm, and the viability of MCF-7 was significantly decreased when treated by different concentrations of MVs and it was confirmed when apoptosis-related genes' expression level was measured by real-time reverse transcription polymerase chain reaction whereas demonstrated that apoptosis genes including Bax, P53, P21, and EP300 (2<sup>- ΔΔ CT</sup>) and ΔCT values were expressed significantly in MCF-7 treated by MVs higher than those nontreated, and decrease of Bcl-2 expression level in MVs-treated MCF-7 was also significant as an antiapoptosis-related gene. 31603120 2020
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.600 GeneticVariation disease BEFREE Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report. 30635043 2019
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.600 GeneticVariation disease BEFREE Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells. 31504229 2019
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.600 GeneticVariation disease BEFREE Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutations in either CREBBP (RSTS1) or EP300 (RSTS2) genes. 31491690 2019
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.600 GeneticVariation disease BEFREE CREBBP is the major causative gene (55%-60% of the cases), whereas pathogenic variants found in EP300 represent the molecular cause in 8% of RSTS patients. 31566936 2019