BCR, BCR activator of RhoGEF and GTPase, 613

N. diseases: 392; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 AlteredExpression disease BEFREE Furthermore, Gadd45a expression in samples obtained from CML patients was upregulated in more indolent chronic phase CML samples and down regulated in aggressive accelerated phase CML and blast crisis CML. 28086219 2017
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE Distinct groups were examined: (1) acquired clinical resistance because of blast crisis and/or BCR-ABL1 mutations; and (2) documented imatinib discontinuation/interruption. 22431575 2012
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE We describe a 5-year-old girl with Ph(+) CML who received a cord blood transplant in a second accelerated phase after a very early lymphoid blast crisis. 10673684 2000
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE CML patients in blast crisis have breakpoints localized to a specific region of the BCR. 3038213 1987
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE We demonstrate that FoxO3a activation in CML blast crisis (BC) cells by overexpressing FoxO3a leads to the maturation of CML BC cells. 23915976 2013
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE According to the 2008 World Health Organization (WHO) Classification of Tumors of the Haematopoietic and Lymphoid Tissues, the finding of B lymphoblasts in the blood or bone marrow of a patient with chronic myelogenous leukemia, BCR-ABL1+ (CML) should raise a concern for progression of the disease to B-lymphoblastic blast phase. 25916436 2017
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE We reviewed the outcomes of imatinib-resistant CML patients (chronic phase, n = 34; accelerated phase [AP], n = 9; and blast phase [BP], n = 4) who underwent HSCT and had BCR-ABL1 sequencing. 21156844 2011
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Cases with blast crisis secondary to chronic myelogenous leukemia (CML-BC) were not represented in this series. 2457510 1988
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE We have previously shown that the Jak2 tyrosine kinase is activated in Bcr-Abl positive cell lines and blood cells from CML blast crisis patients by tyrosine phosphorylation. 12370803 2002
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE This case illustrates the major interest of interphase FISH for BCR-ABL1 rearrangement on blood neutrophils as a decisive method to discriminate a lymphoid blast crisis of CML from a de novo BCR-ABL1 positive ALL. 28444777 2018
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE The detection of isochromosomes in the leukemias and in solid tumors has been well described in the literature, the most common being the i(17q), which is found in the blast crisis of CML and terminal stages of acute myeloid leukemia. 8697419 1996
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Allogeneic transplantation, which over a decade ago was considered the definitive therapy for CML, is now appropriately used in cases where all TKIs are not tolerated, in cases of resistance to TKI therapy, or when the disease progresses from chronic phase to accelerated or blast phase. 27521333 2016
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE In a retrospective single centre study we examined the outcome of five different therapy approaches in 48 patients in whom a relapse of CML (13 cytogenetic relapses, 35 hematological relapses: 10 chronic phase (CP), nine accelerated phase, 16 blast crisis) occurred after allogeneic BMT. 9466277 1997
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE Diagnoses included de novo acute myeloid leukemia (AML; 21 patients), leukemia arising from an antecedent hematologic disorder or prior cytotoxic therapy (secondary AML; 27 patients), AML in relapse (29 patients), and blast phase of chronic myeloid leukemia (CML-BP; 10 patients). 8630412 1996
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE In the present study, a combined method (CM) for attaining simultaneous identification of leukemic cell morphology, karyotype and immunophenotype has been evaluated in 21 patients with acute leukemia and 1 with CML in blast crisis were studied for morphology, citochemistry, immunophenotype and karyotype. 9293114 1997
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE We confirmed the high frequency of SFKs involvement in Tyrosine kinase inhibitor-resistant CML (52% of the cases) and even further in progressive disease and blast crises (60% of the cases). 20673586 2011
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 AlteredExpression disease BEFREE Here, we show that the expression of WASP decreases with the progression of CML, inversely correlates with the expression of BCR-ABL1 and is particularly low in blast crisis. 29022901 2017
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE The natural evolution of CML is to progress into accelerated phase and blast crisis after a rather indolent chronic phase. 21062244 2011
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE Furthermore, a greater number of patients had entered blast crisis if the RNA contained BCR exon b3 (8 of 10 patients), compared to those with b2-a2 spliced RNA (3 of 12 patients). 1961034 1991
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Although the exact mechanisms of increased ROS production remain largely unknown and no single pathway has been detected thus far, some oncogenic proteins (e.g., the activated tyrosine kinases BCR-ABL1 and FLT3-ITD) seem to play a key role in driving genetic instability by increased ROS generation which influences the disease course (e.g., blast crisis in chronic myeloid leukemia or relapse in FLT3-ITD positive acute myeloid leukemia). 20842730 2010
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE The results of Giemsa band analyses of the marrow cells of 19 cases of CML in the chronic or blast phase are reported. 1083192 1975
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 PosttranslationalModification disease BEFREE Those patients who had retained exon b3, and expressed a b3-a2 mRNA, showed no change in the extent of methylation of the BCR/ABL gene but did exhibit an increase in methylation of the BCR gene during blast crisis. 7683349 1993
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE We have used probes for the bcr gene to obtain molecular evidence for the clonal origin of blast crisis in 2 patient with CML. 3085701 1986
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE As tyrosine kinase inhibitors (TKIs) fail to induce long-term response in blast crisis chronic myelogenous leukemia (CML-BC) and Philadelphia chromosome-positive (Ph(+)) acute lymphoblastic leukemia (ALL), novel therapies targeting leukemia-dysregulated pathways are necessary. 23970380 2013
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Different suppression of Ph1 positive hemopoiesis induced by intensive chemotherapy in lymphoid and myeloid blast crisis of CML. 1937170 1991