Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE The twin pair concordant for ALL shared identical BCR-ABL1 genomic sequence indicative of monoclonal, in utero origin. 21960589 2011
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 Biomarker disease BEFREE This case seems to represent an exceedingly rare instance of Ph1(+),i(17q) ALL in which the differential diagnosis between blast transformation of CML and Ph1(+) ALL was initially difficult to make. 1747460 1991
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE This assay will identify both the CML- and ALL-type BCR-ABL transcripts encoded by the t(9;22), all described variants of the E2A-PBX1 transcripts encoded by the t(1;19), the MLL-AF4 transcripts encoded by the t(4;11), and all variants of TEL-AML1 encoded by the t(12;21). 9844930 1998
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 Biomarker disease BEFREE Pediatric ALL had higher prevalence of ETV6-RUNX1, TCF3-PBX1, and STIL-TAL1, while BCR-ABL1 and SET-NUP214 were more common in adult ALL. 30125757 2018
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE Inactivation of the 9p21 locus by genomic deletion is a frequent event in BCR-ABL1-positive ALL. 22134481 2011
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 Biomarker disease BEFREE In all patients, normal and leukemic repopulating stem cells could successfully be separated prospectively, and notably, the size of the normal HSC compartment in ETV6-RUNX1 and P190 BCR-ABL1 ALLs was found to be unaffected by the expansive leukemic stem cell population. 15908956 2005
Childhood Acute Lymphoblastic Leukemia
0.400 AlteredExpression disease BEFREE Although "paired box 5" (PAX5)-related fusion genes are well documented in childhood B-cell precursor acute lymphoblastic leukemia (ALL), these types of fusion with the exception of PAX5-JAK2 are rarely seen in patients with gene expression profiles similar to those of BCR-ABL1 (Philadelphia)-positive ALL (Ph-like ALL). 27870151 2017
Childhood Acute Lymphoblastic Leukemia
0.400 AlteredExpression disease BEFREE Philadelphia chromosome-positive (Ph+) B-cell precursor acute lymphoblastic leukemia (ALL) expressing BCR-ABL1 oncoprotein is a major subclass of ALL with poor prognosis. 28579617 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 Biomarker disease BEFREE The main reason for the unfavorable clinical outcome of BCR-ABL1-positive acute lymphoblastic leukemia (ALL) is genetic instability. 19759560 2010
Childhood Acute Lymphoblastic Leukemia
0.400 AlteredExpression disease BEFREE None of the patients with ALL or CML-lymphoid-BC expressed SCL. 7579412 1995
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