CBFB, core-binding factor subunit beta, 865

N. diseases: 76; N. variants: 4
Disease: leukemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023418
Disease: leukemia
leukemia 		0.100 AlteredExpression disease BEFREE This study reveals a mechanism whereby CBFβ-SMMHC drives leukemia maintenance and suggests that inhibitors targeting chromatin activity may prove effective in inv(16) leukemia therapy. 29958106 2018
CUI: C0023418
Disease: leukemia
leukemia 		0.100 GeneticVariation disease BEFREE More recently, roles for the non-mutated RUNX1 and CBFB genes have been identified in multiple leukemia subtypes. 28299663 2017
CUI: C0023418
Disease: leukemia
leukemia 		0.100 Biomarker disease BEFREE Previous studies showed that the interaction between CBFβ-smooth muscle myosin heavy chain (SMMHC; encoded by <i>CBFB-MYH11</i>) and RUNX1 plays a critical role in the pathogenesis of this leukemia. 29018080 2017
CUI: C0023418
Disease: leukemia
leukemia 		0.100 Biomarker disease BEFREE Importantly, initial trials demonstrate that small molecules targeting these binding partners are effective against CBFβ-SMMHC induced leukemia. 27542261 2016
CUI: C0023418
Disease: leukemia
leukemia 		0.100 GeneticVariation disease BEFREE Both RUNX1 and CBFβ are frequently mutated in human leukemia. 27428424 2016
CUI: C0023418
Disease: leukemia
leukemia 		0.100 GeneticVariation disease BEFREE RUNX1 and CBFB are among the most frequently mutated genes in human leukemias. 26165235 2015
CUI: C0023418
Disease: leukemia
leukemia 		0.100 GeneticVariation disease BEFREE RUNX1 and CBFβ are the most common targets of chromosomal rearrangements in leukemia. 23813439 2013
CUI: C0023418
Disease: leukemia
leukemia 		0.100 Biomarker disease BEFREE We hypothesize that the interaction between RUNX1 and CBFβ is critical for CBF leukemia and can be targeted for drug development. 22912405 2012
CUI: C0023418
Disease: leukemia
leukemia 		0.100 Biomarker disease BEFREE The expression of all 3 genes was detected in most human and murine CBFB-MYH11(+) leukemia samples. 20007544 2010
CUI: C0023418
Disease: leukemia
leukemia 		0.100 Biomarker disease BEFREE For example, to obtain a relapse detection fraction of 90% and a median time of 60 days, blood sampling every sixth month should be performed for CBFB-MYH11 leukemias. 19901261 2010
CUI: C0023418
Disease: leukemia
leukemia 		0.100 GeneticVariation disease BEFREE Although knock-in of CBFB-MYH11 is not sufficient to cause disease, expression increases the incidence of leukemia when combined with cooperating events. 16670269 2006
CUI: C0023418
Disease: leukemia
leukemia 		0.100 GeneticVariation disease BEFREE These findings indicate a myeloid to lymphoid lineage switch from an inv(16)(p13q22) positive leukaemia and show that IGH gene rearrangements can occur in the presence of CBFB-MYH11 fusion transcripts. 15339697 2004
CUI: C0023418
Disease: leukemia
leukemia 		0.100 Biomarker disease BEFREE Although CBFB forms a core-binding factor transcriptional complex with RUNX1, previous analyses have excluded the CBFB gene as the leukemia-predisposing gene in these families. 15334552 2004
CUI: C0023418
Disease: leukemia
leukemia 		0.100 Biomarker disease BEFREE CBFB is associated with human leukemias through a chromosome 16 inversion and is essential for definitive hematopoiesis during mouse embryo development. 11110689 2000
CUI: C0023418
Disease: leukemia
leukemia 		0.100 GeneticVariation disease BEFREE Structure of the leukemia-associated human CBFB gene. 7607682 1995