FOXO1, forkhead box O1, 2308

N. diseases: 380; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 GeneticVariation disease BEFREE Alveolar rhabdomyosarcoma (RMS) is associated with an underlying pathogenic translocation involving either PAX3 or PAX7 and FOXO1. 31299267 2019
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE For example, the MYB-NFIB fusion in adenoid cystic carcinoma is regulated by IGF1R through an autocrine loop, and IGF1R is a downstream target of the EWSR1-WT1 and PAX3-FKHR fusions in desmoplastic small round cell tumors and alveolar rhabdomyosarcoma, respectively. 31426421 2019
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 AlteredExpression disease BEFREE Entinostat, a selective class I histone deacetylase inhibitor, has been reported to enhance the activity of cytotoxic agents and suppress expression of PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS). 31099166 2019
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE Early detection of the PAX3-FOXO1 fusion gene in circulating tumor-derived DNA in a case of alveolar rhabdomyosarcoma. 30739374 2019
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE We also observed in double knockdown studies that the inhibition of ARMS cell proliferation, survival, and migration after knockdown of PAX3-FOXO1 was significantly (>75%) reversed by knockdown of IL24. 30190424 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 GeneticVariation disease BEFREE The majority of ARMS tumors (80%) harbor a PAX3-FOXO1 or less commonly a PAX7-FOXO1 fusion gene. 29367756 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE The goal of this study was to investigate the chemotherapeutic effects of sphingosine on PAX3-FOXO1-positive ARMS cells [tumor protein p53 (TP53)-mutated RH30 and TP53 wild-type RH18 cells]. 29277758 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 GeneticVariation disease BEFREE A comprehensive approach involving conventional cytogenetics and FOXO1 FISH of the bone marrow is needed to assess high-risk ARMS patients and identify novel cytogenetic findings. 29214757 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE <i>PPP2R1A</i> regulated by PAX3/FOXO1 fusion contributes to the acquisition of aggressive behavior in PAX3/FOXO1-positive alveolar rhabdomyosarcoma. 29861864 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 AlteredExpression disease BEFREE In this review, we will discuss the current knowledge regarding potential therapeutic targets that might contribute to indirect interference with PAX3-FOXO1 activity in alveolar rhabdomyosarcoma at the different molecular levels and extrapolate these findings to fusion transcription factors in general. 29146205 2018
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 AlteredExpression disease BEFREE Alveolar rhabdomyosarcoma (ARMS) is a devastating pediatric disease driven by expression of the oncogenic fusion gene PAX3-FOXO1A. 27864345 2017
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE The chromosomal translocation that leads to alveolar rhabdomyosarcoma development generates a novel TAD that is likely to favour ectopic PAX3:FOXO1 oncogene activation in non-PAX3 territories. 28615069 2017
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE In alveolar rhabdomyosarcoma (ARMS) that is a highly malignant pediatric soft tissue tumor, MET, a receptor of hepatocyte growth factor (HGF), was reported to be downstream of the PAX3-FOXO1 fusion gene specific to ARMS, and a key mediator of metastatic behavior in RMS. 27840956 2017
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE Aside from the fact that FOXO1 break-apart and its amplification were correlated with atypical ARMS, aneuploidies were usually found in atypical ERMS. 28646473 2017
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 GeneticVariation disease BEFREE Alveolar rhabdomyosarcoma (aRMS) is a pediatric soft tissue cancer commonly associated with a chromosomal translocation that leads to the expression of a Pax3:Foxo1 or Pax7:Foxo1 fusion protein, the developmental underpinnings of which may give clues to its therapeutic approaches. 28883017 2017
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE RGD liposome-protamine-siRNA (LPR) nanoparticles targeting PAX3-FOXO1 for alveolar rhabdomyosarcoma therapy. 27261335 2016
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 AlteredExpression disease BEFREE Interestingly, we found that the fusion RNA profile of RH30, an ARMS cell line, is most similar to the myogenesis time point when PAX3-FOXO1 is expressed. 27799565 2016
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 AlteredExpression disease BEFREE There is particular interest in targeting the oncogenic PAX3-FOXO1 fusion transcription factor, which induces alveolar rhabdomyosarcoma (aRMS), an aggressive cancer of skeletal muscle cells for which patient outcomes remain dismal. 27760049 2016
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE In this study we demonstrate that PAX3-FOXO1 serves as a driver mutation to initiate a cascade of mRNA and miRNA changes that ultimately reprogram proliferating myoblasts to induce the formation of ARMS. 27588498 2016
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE The presence of PAX3-FOXO1 in SNS and alveolar rhabdomyosarcoma suggests that these two entities are genetically similar lesions arising from distinct progenitor cell pools. 26355893 2016
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease GENOMICS_ENGLAND Clonality and evolutionary history of rhabdomyosarcoma. 25768946 2015
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE However, subsequent molecular genetic testing of the biopsy specimen was positive for the PAX3/PAX7-FKHR chimeric gene, indicating the tumor was actually an alveolar rhabdomyosarcoma. 24608324 2015
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE PAX-FOXO1 fusion gene status is a more reliable prognostic marker than alveolar histology, whereas fusion gene-negative (FN) ARMS patients are clinically similar to ERMS patients. 26473193 2015
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE Prognostic value of PAX3/7-FOXO1 fusion status in alveolar rhabdomyosarcoma: Systematic review and meta-analysis. 26008753 2015
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		0.800 Biomarker disease BEFREE Taken together, these preclinical studies validate the PLK1-PAX3-FOXO1 axis as a rational target to treat aRMS. 25398439 2015