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: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE Rearrangements of T- and B-cell receptor (TCR and BCR) genes are useful markers for clonality assessment as well as for minimal residual disease (MRD) monitoring during the treatment of haematological malignancies. 31587259 2020
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE We here describe the first results by the EURO-MRD consortium on standardization of qRT-PCR for the e1a2 BCR-ABL1 transcript in Ph + ALL, designed to overcome the lack of standardisation of laboratory procedures and data interpretation. 30858550 2019
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE Eight of 9 patients with MRD achieved BCR-ABL1 negativity (complete molecular response, CMR) after a median of one cycle; 2/2 patients without measurable disease durably maintained CMR. 30831480 2019
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE BCR-ABL1 and CRLF2<sup>Re/Hi</sup><sub>,</sub> and that high CD99 mRNA levels are strongly associated with a high frequency of relapse, high proportion of positive for minimal residual disease at day 29 and poor overall survival in paediatric cohorts, which indicate that CD99 is a potential biomarker for BCP-ALL. 30484860 2019
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE A new highly sensitive real-time quantitative-PCR method for detection of BCR-ABL1 to monitor minimal residual disease in chronic myeloid leukemia after discontinuation of imatinib. 30835732 2019
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 GeneticVariation phenotype BEFREE This study assesses their utility in BCR-ABL1 negative pediatric B-ALL, particularly with respect to end-induction minimal residual disease (MRD). 29199525 2018
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 GeneticVariation phenotype BEFREE To address this, we studied 142 adults with ALL treated with hyperCVAD over a 10-year period who had MRD assessed by either multi-parameter flow cytometry or (for patients with Philadelphia chromosome positive ALL) reverse transcriptase polymerase chain reaction for the BCR-ABL1 translocation. 29318644 2018
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 GeneticVariation phenotype BEFREE Our report suggests a feasible pipeline, in terms of costs and reproducibility, aimed at characterizing and quantifying the genomic BCR-ABL1 rearrangement during MRD monitoring in CML patients. 29541390 2018
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 AlteredExpression phenotype BEFREE Evaluation of MRD level by flow cytometry or molecular techniques in the era of the new BCR and Bcl-2 targeted inhibitors could identify the most cost-effective and durable treatment sequencing. 28864095 2018
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE We detected MRD by real-time quantitative polymerase chain reaction (RQ-PCR) of rearranged immunoglobulin/T-cell receptor genes (IG/TR) and/or BCR/ABL1 fusion transcript to investigate its predictive value in patients receiving Berlin-Frankfurt-Münster (BFM) high-risk (HR) therapy and post-induction intermittent imatinib (the European intergroup study of post-induction treatment of Philadelphia-chromosome-positive acute lymphoblastic leukemia (EsPhALL) study). 29079599 2018
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 AlteredExpression phenotype BEFREE The non/late response rate and levels of minimal residual disease in the fusion-positive BCR-ABL1-like group were higher than in the non-BCR-ABL1-like B-others (p<0.01), and also higher, albeit not statistically significant, compared with the fusion-negative BCR-ABL1-like group. 27894077 2017
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE A rare e13a3 (b2a3) BCR-ABL1 fusion transcript with normal karyotype in chronic myeloid leukemia: The challenges in diagnosis and monitoring minimal residual disease (MRD). 28527402 2017
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 GeneticVariation phenotype BEFREE The biological heterogeneity of <i>BCR-ABL1</i>-positive ALL may impact the patient outcomes and optimal treatment (early stem cell transplantation vs long-term administration of tyrosine-kinase inhibitors) as well as on MRD testing. 28331056 2017
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE Therefore, quantification of BCR-ABL<sup>I</sup><sup>ns35bp</sup> is useful for evaluating "functional" MRD and determining the effectiveness of TKI with accuracy. 28801986 2017
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE A 17-year-old girl with B-cell precursor acute lymphoblastic leukemia (BCP-ALL) with persistent minimal residual disease (MRD) who underwent standard chemotherapy was found to have a BCR-ABL1-like gene expression pattern. 27860260 2017
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE However, BCR-ABL1-independent resistance in the setting of effective BCR-ABL1 inhibition is recognized as a major contributor to minimal residual disease. 28673390 2017
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE Minimal Residual Disease Eradication in CML: Does It Really Matter? 28852963 2017
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 GeneticVariation phenotype BEFREE The combination of IKZF1 deletion and p210 BCR-ABL1 (p < 0.0001), high white blood cell count (p = 0.021), and minimal residual disease (p = 0.013) were associated with worse disease-free survival. 26892479 2016
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 AlteredExpression phenotype BEFREE A high level of MRD was associated with high WBC counts, increased age, BCR-ABL1 fusion gene, MLL rearrangements and adverse karyotypes. 27212157 2016
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 AlteredExpression phenotype BEFREE BCR-ABL1 expression was studied in 248 samples from 65 patients with CML by determining the difference between MRD quantified by RT-qPCR and DNA-qPCR. 26837312 2016
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE In chronic myeloid leukemia, the identification of individual BCR-ABL1 fusions is required for the development of personalized medicine approach for minimal residual disease monitoring at the DNA level. 25928096 2015
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 AlteredExpression phenotype BEFREE Monitoring of minimal residual disease (MRD) by quantification of BCR-ABL1 transcript levels has become a main part of the management of patients with BCR-ABL1-positive acute lymphoblastic leukemia (ALL) in treatment with tyrosine kinase inhibitors (TKIs). 24630366 2014
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 GeneticVariation phenotype BEFREE Real-time quantitative RT-PCR (RT-qPCR, also RQ-PCR) of BCR-ABL1 RNA is a necessary laboratory technique for monitoring the efficacy of tyrosine kinase inhibitor therapy and quantitatively assessing minimal residual disease. 23810242 2013
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE It also emphasizes the utility and significance of cytogenetics and FISH techniques in primary diagnosis of CML and use of RT-PCR based assays only for generating secondary information within special reference to MRD. 24072036 2013
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.100 Biomarker phenotype BEFREE Thus, quantitative measurement of BCR-ABL1 transcripts in blood and bone marrow both aids in the initial diagnosis of CML and is essential for routine post-therapy minimal residual disease monitoring. 23666687 2013