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 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 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 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 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 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 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 A genomic probe derived from the breakpoint cluster region (bcr) on chromosome 22q11 was used to assess whether Philadelphia (Ph) chromosome positive chronic myelogenous leukaemia patients have unique patterns of bcr rearrangements and whether this pattern is modified as the disease progresses from stable phase to blast crisis. 3473067 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 Biomarker disease BEFREE A new abnormality of chromosome 17, distinct from i(17q), was observed in bone marrow cells of two patients with CML during a blast crisis. 6945934 1981
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 Biomarker disease BEFREE A new cell line designated JA-CML was derived from the peripheral blood of a patient with blastic phase CML. 1625478 1992
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 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
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 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 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 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 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 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 Bosutinib, a BCR-ABL1 tyrosine kinase inhibitor (TKI), has been available for several years as a treatment for chronic-, accelerated-, and blast-phase chronic myeloid leukemia (CML), for patients with resistance or intolerance to prior therapy. 30587215 2018
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 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 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 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 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 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