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: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE PP2A inhibition sensitizes cancer stem cells to ABL tyrosine kinase inhibitors in BCR-ABL<sup>+</sup> human leukemia. 29437150 2018
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Imatinib, a breakpoint cluster region-Abelson murine leukemia tyrosine kinase inhibitor, has revolutionized the treatment of chronic myelogenous leukemia (CML). 27875938 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE We used multiple, independent high-throughput drug sensitivity and resistance testing platforms that collectively evaluated 295 oncology compounds to characterize ex vivo drug response profiles of primary cells freshly collected from newly-diagnosed patients with BCR-ABL1-positive leukemia (n = 40) and healthy controls (n = 12). 28186983 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Established leukemia-specific predictive biomarkers for precision medicine include those genetic lesions such as BCR-ABL1 for Philadelphia-positive acute lymphoblastic leukemia and PML-RARα for acute promyelocytic leukemia. 28654205 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease BEFREE Chronic myeloid leukemia (CML) is a stem cell-derived leukemia in which neoplastic cells exhibit the Philadelphia chromosome and the related oncoprotein BCR-ABL1. 28457753 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Our study further shows that the Wnt5a-haploinsufficient environment similarly affects BCR-ABL<sup>p185</sup> leukemia-initiating cells, which fail to generate leukemia in 42% of the studied recipients, or to transfer leukemia to secondary hosts. 27998927 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE BCR-ABL1-negative myeloproliferative neoplasms (MPNs) are clonal stem cell disorders defined by proliferation of one or more myeloid lineages, and carry an increased risk of vascular events and progression to myelofibrosis and leukemia. 28543980 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE We report a third-generation sequencing assay on nanopore technology (MinION) for detecting BCR-ABL1 KD mutations and compare the results to a Sanger sequencing(SS)-based test in 24 Philadelphia-positive (Ph+) leukemia cases. 28663031 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease BEFREE Recently, we found that microvesicles released from human leukemia cell line K562 (K562-MVs) containing BCR-ABL1 mRNA malignantly transformed normal hematopoietic transplants. 28836580 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease BEFREE Fusion between breakpoint cluster region (BCR) and Abelson murine leukemia viral oncogene homolog (ABL)-1 gene gives rise to BCR-ABL protein with a constitutive tyrosine kinase activity and transforms HSCs and/or hematopoietic progenitor cells (HPCs) into disease-propagating leukemia stem cells (LSCs) in chronic myeloid leukemia (CML). 28829353 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease BEFREE Approximately 10%-12% of patients in chronic-phase chronic myeloid leukemia (CP-CML) have additional chromosomal aberrations at diagnosis; moreover, CML occurs in up to 10% of pregnancy-associated leukemias, with an annual incidence of 1 per 100,000 pregnancies. 28721056 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE The breakpoint cluster region (BCR) is known as a kinase and cause of leukemia upon fusing to Abl kinase. 27630163 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease BEFREE Conversely, allosteric stimulation of ABL1 kinase activity enhanced the antileukemia effect of ABL1 tyrosine kinase inhibitors (imatinib and ponatinib) in human and murine leukemias expressing BCR-ABL1, TEL-ABL1, and NUP214-ABL1. 26864341 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE This breakthrough revolutionized our knowledge related to leukemia biology and contemporary studies revealed that chromosomal translocation resulted in the fusion between the 5' segment of BCR gene and 3' segment of the ABL gene to form BCR/ABL fusion gene. 27894413 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Specifically, it is associated to a particular cytogenetic abnormality, known as Philadelphia chromosome (Ph), which results from a fusion between part of the BCR ("breakpoint cluster region") gene from chromosome 22 and the Abelson (ABL) gene on chromosome 9 and leads to the formation a new gene leukemia-specific, the BCR-ABL. 27281463 2016
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE The presence of BCR-ABL1 can explain virtually all the cellular features of the leukaemia (enhanced cell growth, inhibition of apoptosis, altered cell adhesion, growth factor independence, impaired genomic surveillance and differentiation). 25814077 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE This study demonstrates for the first time the acquisition of additional BCR-ABL1 fusion genes through mitotic recombination in CML with cryptic BCR-ABL1. 26186983 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease BEFREE Leukemias expressing the constitutively activated tyrosine kinases (TK) BCR-ABL1 and FLT3/ITD activate signaling pathways that increase genomic instability through generation of reactive oxygen species (ROS), DNA double-strand breaks (DSB), and error-prone repair. 25828893 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Evaluation of a novel multiplex RT-qPCR assay for the quantification of leukemia-associated BCR-ABL1 translocation. 26243622 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Here we combine comprehensive drug sensitivity and resistance profiling of patient cells ex vivo with structural analysis to establish the VEGFR tyrosine kinase inhibitor axitinib as a selective and effective inhibitor for T315I-mutant BCR-ABL1-driven leukaemia. 25686603 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 AlteredExpression disease BEFREE Thus, wild-type IKAROS restrains stemness properties and has tumor suppressor activity in BCR-ABL1-initiated leukemia. 24791856 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Further gains in our understanding of the biology of Philadelphia chromosome-positive (Ph-positive) leukemia and mechanisms of resistance to BCR-ABL1 TKIs will benefit patients and also provide a blueprint for similar discovery in other cancers. 25700679 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Mutations in the BCR-ABL1 kinase domain are an established mechanism of tyrosine kinase inhibitor (TKI) resistance in Philadelphia chromosome-positive leukemia, but fail to explain many cases of clinical TKI failure. 25134459 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Pre-clinical evidence of PIM kinase inhibitor activity in BCR-ABL1 unmutated and mutated Philadelphia chromosome-positive (Ph+) leukemias. 26375673 2015
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE A kinase-independent role for Bcr-Abl in leukemia stem cells would imply that drugs that target Bcr-Abl's scaffolding ability or its DNA-binding ability should be used in conjunction with current therapeutic regimens to increase their efficacy and eradicate the stem cells of chronic myeloid leukemia. 24598782 2014