Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE We demonstrated the dPCR is high-sensitive (able to detect a single copy of BCR-ABL1) and reliable (results are comparable to those obtained by BCR-ABL1 quantification with conventional technology), allowing an accurate monitoring of BCR-ABL1-positive ALL patients in complete remission. 24630366 2014
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE In lymphoblastic leukemias, there are two molecular subtypes of the Ph1 chromosome, one with a rearrangement of the breakpoint cluster region (bcr) of the BCR gene, producing the same 8.5-kilobase BCR-ABL fusion mRNA seen in chronic myelogenous leukemia (CML), and the other, without a bcr rearrangement, producing a 7.0-kilobase BCR-ABL fusion mRNA that is seen only in acute lymphoblastic leukemia (ALL). 2498881 1989
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE To characterize the subset of ALL with normal karyotype or failed CBA, we performed fluorescence in situ hybridization (FISH) or PCR for BCR-ABL1 and MLL rearrangements as well as array comparative genomic hybridization (aCGH) in 186 adult patients. 26449660 2016
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE In this cohort of Taiwanese children, the relative frequencies of the 4 translocations of B-lineage ALL were 8% with ALL-type t(9;22)/BCR-ABL1, 4% with (1;19)/TCF-PBX1, 2% with t(4;11)/MLL-AF4, and 17.6% with t(12;21)/ETV6-RUNX1. 20930648 2010
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease 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
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Of the total 631 cases, 52.9% (n=334) were acute lymphoblastic leukemia (ALL), 43.9% (n=277) acute myeloid leukemia (AML), 2.2% (n=14) mixed phenotypic acute leukemia (MPAL), 0.5% (n=3) acute undifferentiated leukemia (AUL) and 0.5% (n=3) chronic myeloid leukemia in blast crisis (CML-BC). 30858955 2019
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Rearrangements in the BCR gene first intron, the so-called bcr2 and bcr3 regions, were detected in two other cases, one with an acute lymphoblastic leukemia (ALL) and one with mixed acute leukemia. 1993310 1991
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Chronic myelogenous leukemia (CML) and Philadelphia chromosome-positive (Ph(+)) acute lymphoblastic leukemia (ALL) are associated with fusion of the BCR and ABL1 genes by chromosome translocation. 22749885 2012
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Detectable by fluorescence in situ hybridization (FISH), these losses of sequence include deletion of the 5' region of the ABL gene and the 3' region of BCR in chronic myeloid leukemia (CML) and acute lymphoblastic leukemia (ALL), as well as the 5' region of ETO in acute myeloid leukemia (AML) French-American-British type M2 associated with t(8;21), 3'MLL in AML and ALL, and 3' core-binding factor beta (CBFbeta) in AML associated with inv(16). 16213359 2005
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE In CML the translocation breakpoint on chromosome 22 is within the breakpoint cluster region, while in childhood ALL, no detectable change in breakpoint cluster region is routinely observed. 3162827 1988
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE A series of five single-copy genomic probes from the 70-kilobase first intron of BCR were used to localize rearrangements in 8 of 10 Philadelphia chromosome-positive ALLs. 2567002 1989
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE CD25 (IL-2RA) and CD26 (DPPIV) were expressed on LSCs in Ph<sup>+</sup> ALL exhibiting BCR/ABL1<sub>p210</sub>, whereas in Ph<sup>+</sup> ALL with BCR/ABL1<sub>p190</sub>, LSCs variably expressed CD25 but did not express CD26. 29772458 2018
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Pre-B cells transformed with the viral oncogene v-Abl are suspended in an immortalized, cycling state that mimics leukemias with a BCR-ABL1 translocation, such as Chronic Myelogenous Leukemia (CML) and Acute Lymphoblastic Leukemia (ALL). 22693568 2012
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE The Philadelphia chromosome (Ph) encoding the oncogenic BCR-ABL1 kinase defines a subset of acute lymphoblastic leukemia (ALL) with a particularly unfavorable prognosis. 17485517 2007
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE At the 60<sup>th</sup> month, estimated CBMR and CEMR incidences were, respectively, 14.3 (5.1)% and 25.9 (6.6)% in ALL, 25.8 (5.9)% and 15.5 (4.8)% in AML, and 61.5 (16.5)% and 17.9 (13.4)% in CML. 30116013 2019
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE We have described an unusual case of ALL in which ETV6 is found fused to the ABL gene; ABL is normally activated by fusion to the BCR gene in the 9:22 translocation. 9523202 1998
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Southern blot analysis revealed no rearrangement in Mbcr1, and direct sequencing of the PCR product confirmed it to be the ALL-type mbcr1 fusion mRNA with the first exon of the BCR gene fused to ABL exon a2. 8756076 1996
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE We searched for original articles and reviews describing the pharmacology and clinical use of dasatinib in ALL with BCR-ABL1. 30916583 2019
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE We investigated the frequency, predictors, and evolution of acute lymphoblastic leukemia (ALL) in patients with CNS relapse and introduced a novel method for studying BCR-ABL1 protein variants in cDNA from bone marrow (BM) and cerebrospinal fluid (CSF) blast cells. 28451802 2017
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Fusion genes were detected by F-qRT-PCR in 97.3% of patients with CML, followed by 69.4% with AML, 33.3% with acute lymphoblastic leukemia (ALL), 9.1% with myelodysplastic syndromes (MDS), and 0% with chronic lymphocytic leukemia (CLL). 28743306 2017
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Twenty patients had chronic myeloid leukemia in blast crisis (CML-BC), three had Ph+ de novo acute nonlymphocytic leukemia (ANLL), and five had de novo acute lymphoblastic leukemia (ALL). 3474891 1987
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Philadelphia (Ph1) chromosome breakpoints in acute lymphoblastic leukemia (ALL) are of two kinds: those within the breakpoint cluster region (bcr+), as in chronic myeloid leukemia (CML), and those outside it (bcr-). 3165301 1988
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Both retained the Ph1 chromosome and expressed the ALL type bcr/abl chimeric mRNA containing the junction of the first exon of BCR gene (e1) and second exon of c-abl gene (a2). 8428799 1993
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE We have now used the same technique, reverse transcription/polymerase chain reaction amplification of ABL-BCR transcripts, to study nine patients with Philadelphia (Ph) chromosome-positive acute lymphoblastic leukemia (ALL); seven expressed the P190 and two the P210 type of BCR-ABL fusion protein. 8490164 1993
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Of particular importance is the translocation t(9;22)(q34;q11.2) that leads to the formation of the BCR-ABL1 fusion gene, encoding a constitutively active chimeric tyrosine kinase (TK): BCR-ABL1 that is present in ~3% of pediatric ALL patients with B-immunophenotype and is associated with a poor outcome. 28748759 2018