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 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 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 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 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 "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 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 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 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 We have shown that patients with a breakpoint within the 5' region of the M-bcr of the bcr gene have a different sub-set of chromosomal bands involved in the cytogenetic abnormalities observed during the development of blast crisis than those patients with a 3' breakpoint. 1961015 1991
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 GeneticVariation disease BEFREE Myeloproliferative neoplasms with t(8;22)(p11.2;q11.2)/BCR-FGFR1: a meta-analysis of 20 cases shows cytogenetic progression with B-lymphoid blast phase. 28551329 2017
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 GeneticVariation disease BEFREE Patients with chronic myelogenous leukemia (CML) in blast crisis have a poor response to tyrosine kinase inhibitors designed to inhibit the breakpoint cluster region-v-Abelson murine leukemia viral oncogene homolog 1 (BCR-ABL1) oncogene. 22139798 2012
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.400 GeneticVariation disease BEFREE Early T cell differentiated chronic myeloid leukemia blast crisis with rearrangement of the breakpoint cluster region but not of the T cell receptor beta chain genes. 3103711 1987
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 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 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 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 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 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 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 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 Biomarker disease BEFREE Management of CML-blast crisis. 27839570 2016