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 AlteredExpression disease BEFREE Patients with CML in blast crisis, or with Philadelphia positive acute lymphoblastic leukaemia (ALL), can have a smaller BCR-ABL fusion transcript possessing only the first exon of BCR fused to ABL. 9858221 1998
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE A regimen incorporating VP should be the treatment of choice in "lymphoid" blast crisis of CML. 283875 1979
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 CML transformation to lymphoid blast phase (BP) is associated with copy number abnormalities, characteristic of BCR-ABL1 positive acute lymphoblastic leukemia, but not of CML in the chronic phase. 30511400 2019
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE Most of these abnormalities were present in karyotypes with multiple alterations and associated to an evolutive stage of the disease (9 of 94 cases studied in progression, including three of 22 CML studied in blast crisis). 7553581 1995
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 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 These LSCs or their progeny may at some stage acquire additional genetic changes that cause the leukemia to transform further, from CML-CP to a more advanced phase, which has been subclassified as either accelerated phase (CML-AP) or blastic phase (CML-BP). 22328017 2012
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 AlteredExpression disease BEFREE These findings suggest that genotypic changes in CML-BC are usually associated with phenotypic results of the neoplastic cells: the expression of CD10 in CML-BC patients is accompanied by the involvement of IgH with frequent TCR rearrangements which possibly are due to the common recombinase activity. 2143795 1990
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 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 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 A few weeks later she developed the typical peripheral and bone marrow pattern of chronic myelogenous leukaemia (CML) with persistence of the BCR rearrangement and disappearance of the IgH rearrangement, suggesting that this case is an example of CML presenting in blast crisis without a detectable chronic phase. 7993807 1994
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 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 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 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 Biomarker disease BEFREE We conclude that the FHIT gene and other uncharacterized tumour-suppressor genes at 3p14.2 are unlikely to be involved in the pathogenesis of acute leukaemia or progression of CML from chronic phase to blast crisis. 9744498 1998
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE Mitoxantrone and 5-azacytidine for refractory/relapsed ANLL or CML in blast crisis: a leukemia intergroup study. 7690519 1993
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE In addition, analysis for immunoglobulin and T-cell receptor gene rearrangement was done to investigate the possibility of mixed myeloid and lymphoid lineage, which has been shown to occur in childhood acute myelogenous leukemia and CML in blast crisis. 7567936 1995
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE Evi-1 was overexpressed not only in leukemias with 3q26 abnormalities, but, in those without 3q26 abnormalities, especially in blast crisis of CML. 9183665 1996
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE Case of CML lymphoid blast crisis presenting as bilateral breast masses. 27511749 2016
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE Parts of the Bcr/Abl hybrid transcript supposed to be important for its transforming ability were sequenced in a series of CML blast crises, in order to evaluate the possible presence of alterations responsible for the disease transition from the chronic to the acute phase. 8251905 1993
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE More than 4 years after the autograft, the patient remains in chronic phase with no evidence of accelerated phase or blast crisis of CML, but with a concurrent MDS. 9208122 1997
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 AlteredExpression disease BEFREE A splicing mutation accounts for the lack of p53 gene expression in a CML blast crisis cell line: a novel mechanism of p53 gene inactivation. 2223633 1990