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 The temperature-sensitive p53Val135 mutant or the human wt-p53 cDNA was transduced in leukaemia cell lines representative of different acute leukaemia FAB subtypes, including M1 (KG1), M2 (HL-60), M3 (NB4), M5 (U937) and M6 (HEL 92.1.7), as well as blast crisis of chronic myelogenous leukaemia (BC-CML: K562, BV173) showing diverse differentiation features. 9652758 1998
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 Tiazofurin effects on IMP-dehydrogenase activity and expression in the leukemia cells of patients with CML blast crisis. 9042310 1997
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Phenotypic and genotypic switch in Philadelphia-positive, BCR-positive blast crisis of chronic myeloid leukemia. 1592097 1992
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE In this study, we investigated the distribution and clonality of the TCR Vβ repertoire in 4 cases with imatinib-resistant CML in blast crisis (BC-CML) with abelson murine leukemia viral oncogene homolog 1 (ABL1) kinase domain mutations (KDMs). 26423566 2015
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE In addition, the M-bcr gene rearrangement present in BC1 and CP1 was absent from cells in BC2. 1943228 1991
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 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 Biomarker disease BEFREE Transition towards normal differentiation in nine studies on acute leukaemia, however, correlated with partial or complete replacement of the acute leukaemic cells by normal haemopoietic series in de novo acute leukaemia, and by Ph positive cells in blast crisis of CML. 2206999 1990
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 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 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
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 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 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 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 Biomarker disease BEFREE The studies were conducted by using (i) primary CML-CP stem/early progenitor cells and normal hematopoietic counterparts isolated from the bone marrow of newly diagnosed patients with CML-CP and from healthy donors, respectively, (ii) CML-blast phase cell lines (K562 and KCL-22), and (iii) from <i>BCR-ABL1</i>-transformed 32Dcl3 cell line. 31614827 2019
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE In some cases, the presence of this fusion gene has been associated to a differentiated subtype of CML that share some features with CMML, while in another case this molecular hallmark has been associated to a bad prognosis of the disease with a blast phase as clinical presentation or an early transformation to blast phase. 10475625 1999
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE We report here the first use of whole-genome sequencing (WGS) to examine the initial clonal dynamics in an unusual patient with chronic myeloid leukemia (CML), who presented in chronic phase (CP) with doubly marked BCR-ABL1<sup>+</sup>/JAK2<sup>V617F</sup>-mutant cells and, over a 9-year period, progressed into an accelerated phase (AP) and then terminal blast phase (BP). 28602946 2017
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE These patients have <i>BCR-ABL1</i>-positive clonal hematopoiesis resembling a chronic myeloid leukemia (CML)-like disease manifesting in "lymphoid blast crisis." 28331056 2017
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 Biomarker disease BEFREE In contrast, patients with Ph+ CML in the lymphoid blast crisis phase exhibited a 2.5/2.7 kb band with a complete disappearance of the germline M-BCR fragment (type L). 8501975 1993
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.400 Biomarker disease BEFREE Expression of FLT3 RNA was also observed in some cases of blast crisis CML. 8562934 1996