BCR, BCR activator of RhoGEF and GTPase, 613

N. diseases: 392; N. variants: 7
Disease: Blast Phase ×
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 Biomarker disease BEFREE We conclude that there are rare patients with CML who either present in blast crisis with coexistence of t(9;22) and t(8;21) with or without +8, or progress to blast crisis with acquiring RUNX1-RUNX1T1 in the BCR-ABL1 clone which may or may not be therapy related and represent a later event in a multistep pathogenesis. 21504717 2011
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease CTD_human We also observed satisfied therapy effects of As(2)O(3) and imatinib on patients with CML blast crisis. 21570118 2011
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 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 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 Biomarker disease BEFREE In BC this mechanism is similarly impaired for both BCR-ABL and BCR. 20520635 2010
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE Here, we report that loss of miR-328 occurs in blast crisis chronic myelogenous leukemia (CML-BC) in a BCR/ABL dose- and kinase-dependent manner through the MAPK-hnRNP E2 pathway. 20211135 2010
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE Clinical and laboratory studies indicate that the BCR/ABL1 fusion protein is essential for initiation, maintenance and progression of CML, yet the event(s) driving the transformation from chronic phase to blast phase are poorly understood. 20082691 2010
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 Imatinib resistance and progression of CML to blast crisis: somatic hypermutation AIDing the way. 19732715 2009
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 GeneticVariation disease BEFREE Importantly, our data uncover a causative role of AID activity in the acquisition of BCR-ABL1 mutations leading to Imatinib resistance, thus providing a rationale for the rapid development of drug resistance and blast crisis progression. 19732723 2009
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 GeneticVariation disease BEFREE We identified c-Cbl mutations in 5% and 9% of patients with chronic myelomonocytic leukemia (CMML) and sAML, and also in CML blast crisis and juvenile myelomonocytic leukemia (JMML). 19901108 2009
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 AlteredExpression disease BEFREE EVI1 activation in blast crisis CML due to juxtaposition to the rare 17q22 partner region as part of a 4-way variant translocation t(9;22). 18613965 2008
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 GeneticVariation disease BEFREE Blast crisis chronic myelogenous leukemia (CML-BC) and Philadelphia chromosome-positive (Ph1-positive) acute lymphocytic leukemia (ALL) are 2 fatal BCR/ABL-driven leukemias against which Abl kinase inhibitors fail to induce a long-term response. 17717597 2007
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 GeneticVariation disease BEFREE "Acute myelogenous leukemia like" translocations in CML blast crisis: two new cases of inv(16)/t(16;16) and a review of the literature. 16076492 2006
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE We investigated the regulation of Eg5 by Bcr-Abl tyrosine kinase and its potential as a therapeutic target in BC CML. 16969080 2006
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 GeneticVariation disease BEFREE Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor cells from patients with BCR-ABL-positive CML in chronic phase and blast crisis. 16442619 2006
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE However, the development of an extramedullary tumor in chronic-phase CML generally indicates a poor prognosis, because it commonly consists of blast proliferation and is followed by blast crisis in the marrow within a few months. 15389905 2004
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE Here, we present 21 new cases with myelodysplasia, acute myeloid leukemia or CML in blast crisis, which upon karyotyping showed the presence of a t(2;3). 15085164 2004
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE Progression of CML from chronic phase to blast crisis is accompanied by accumulating genetic alterations. 15109541 2004
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE Expression of MDM2, the negative regulator of p53, was upregulated in a tyrosine kinase-dependent manner in growth factor-independent BCR/ABL-expressing cells, and in accelerated phase and blast crisis CML samples. 12620409 2003
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 Biomarker disease BEFREE The Ph translocation could not be detected by either conventional cytogenetics, FISH or RT-PCR analysis excluding relapse of CML in myeloid blast crisis. 11704795 2001
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 GeneticVariation disease BEFREE These rearrangements include the commonly reported t(8;21)(q22;q22) or AML1/ETO fusion in AML-M2, the t(3;21)(q26;q22) or AML1 fusion with one of three genes, MDS1, EAP or EVI1, in therapy-related AML and MDS, as well as in blast crisis in CML and the t(12;21)(p13;q22) or TEL/AML1 fusion in B-cell ALL. 11566347 2001
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE We describe very uncommon phenotypic and cytogenetic findings in a 40-year-old female with blast phase of Philadelphia chromosome (Ph)-positive CML. 11343772 2001