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 Biomarker disease BEFREE High-density Thy-1 expression was found in 1 case of CML in lymphoid blast crisis, and low-density Thy-1 expression was identified on a portion of the leukemic cells in 2 cases of AML with myelodysplastic features, and 1 case of CML in myeloid blast crisis, suggesting a possible correlation between Thy-1 expression and certain instances of stem cell disorders such as CML and AML with dysplastic features. 7540889 1995
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE Investigation of the molecular events that are associated with the additional cytogenetic abnormalities of blast phase will most likely reveal alterations of other important growth regulatory genes which contribute to the multistep nature of malignant transformation in CML. 2182595 1990
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Management of CML-blast crisis. 27839570 2016
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE The BCR-ABL1 fusion gene, encoding a constitutively active tyrosine kinase, is thought to be sufficient to cause chronic phase (CP) CML, whereas additional genetic lesions are needed for progression into CML BC. 25501026 2014
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Clonal rearrangement and expression of the T cell receptor beta gene and involvement of the breakpoint cluster region in blast crisis of CGL. 3002526 1986
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE The aberrant abl protein product of a chronic myelogenous leukemia (CML) blast crisis cell line (K562) and of five Philadelphia chromosome-positive CML patients in blast crisis were analyzed by an immune complex kinase assay using two antipeptide sera generated against the hydrophilic domain of v-abl and a region within the third exon of the breakpoint cluster region (bcr) respectively. 2885048 1987
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE A model of cell growth at CML blast crisis is presented, which interprets the required constancy of equal-size blast subcompartments in terms of regulation of the G0----G1 flow, the latter involving activation of one cell out of three interacting quiescent blasts in contact. 2285242 1991
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE We demonstrated that expression of the Ik6 transcript, which lacked exons 3-6, was observed exclusively in BCR-ABL1(+) B ALL and lymphoid blast crisis CML (BC-CML) patients harbouring the IKZF1 Δ3-6 deletion. 27198500 2016
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE 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 Molecular data were examined in comparison with morphological and immunophenotypic characterization at diagnosis in 20 hypergranular FAB M3 cases, five microgranular APL (M3v), 51 non-M3 AML and 12 myeloid CML blast crises. 1911341 1991
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE BCR-ABL1-Abl1(-/-) cells generated highly aggressive chronic myeloid leukemia (CML)-blast phase-like disease in mice compared with less malignant CML-chronic phase-like disease from BCR-ABL1-Abl1(+/+) cells. 26864341 2016
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 GeneticVariation disease BEFREE Blast crisis terminates the life of the majority (approximately 80%) of patients with CML. 1068530 1976
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Additionally, rearrangement of the breakpoint cluster region (bcr) was demonstrated in the pretransplant blast crisis sample, but not in the posttransplant lymphoproliferation samples, thus confirming that these lymphoproliferative disorders were distinct. 3304468 1987
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE This study suggests that electron microscopic cytochemistry is useful in evaluating the heterogeneous nature of the blast phase of CML. 6939471 1981
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE A combined increase of MDRI (about 20-fold) and MRP (about four-fold) was monitored in samples obtained from the CML in blast crisis after chemotherapy. 8656699 1996
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE The secondary molecular forces driving progression of CML to blast crisis are however unknown, and may differ from patient to patient. 1931706 1991
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Twenty-five patients with Ph CML who eventually developed a blast crisis were karyotyped at regular intervals in order to correlate the evolution of abnormal clones with clinical changes. 3855370 1985
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 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 GeneticVariation disease BEFREE In rare cases of myeloid malignancies, the BCR-ABL1 fusion was reported to cooperate as class-I-mutation with class-II-mutations, but most cases had to be classified as blast phase of chronic myeloid leukaemia (CML). 21275954 2011
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE The deletion of constitutive exon 5 not only marks the first abnormality of the p55 cDNA in human disease but also the first abnormality of a PDZ domain in human disease and may represent another genetic abnormality associated with CML in blast crisis. 10071076 1999
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Thus, the MC3 cell line may provide several insights into investigations of the blast crisis in CML as well as hematopoietic progenitor cells. 7787756 1995
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 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 Non-lymphoid blast crisis of CML with rearrangement of immunoglobulin and T-cell receptor delta genes. 1907927 1991