Summary Information
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Location: 9q34.1
Aliases: ABL, JTK7
Overview:
Alterations of the ABL1 protooncogene by chromosomal rearrangements, particularly t(9;22) translocations, or by viral transductions are implicated in haematological malignancies. The t(9;22) translocation is present in over 90% of chronic myelogeneous
leukaemia cases. This translocation causes the "head to tail" fusion of the BCR and ABL genes. t(9;22) translocations are also present (though less common) in acute lymphoblastic leukaemia.
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Gene Database Entries for ABL1
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OMIM
GeneCard (Weizmann Institute)
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Tumor Gene Database
Swiss-Prot
Locus Link (search for ABL1)
UniGene
GenAtlas
GDB
Nomenclature (search for ABL1)
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Other Related Resources
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Case study: 39 year old woman with acute lymphoblastic leukemia with t(9;22)(q43;q11.2) (Department of Pathology, University of Pittsburgh)
Leukaemia Resources
Chronic Myeloid Leukaemia Resources
BCR gene (22q11.21)
Medline Search: ABL1 (PubMed)
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t(9;22) ABL1-BCR "Philadelphia" translocation in Leukaemia
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Chissoe SL, et al. Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation. Genomics 1995 May 1;27(1):67-82 Related articles (PubMed)
de Klein A, et al. A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature 1982; 300(5894):765-7 Related articles (PubMed)
Medline Search: leukemia AND ((ABL AND BCR AND gene) OR (Philadelphia AND chromosome)) (PubMed)
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Leukaemia Genetics
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Philadelphia Chromosome in Chronic Myelogenous Leukaemia
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The t(9;22)(q34;q11) translocation is characteristic of chronic myelogeneous leukaemia (CML). The translocation results in the "head to tail" fusion
of the BCR and ABL1 genes and is present in over 90% of CML cases.
Hochhaus A, et al. Molecular heterogeneity in complete cytogenetic responders after interferon-alpha therapy for chronic myelogenous leukemia: low levels of minimal residual disease are associated with continuing remission. German CML Study Group and the UK MRC CML Study Blood 2000 Jan 1;95(1):62-6 Related articles (PubMed)
de Klein A, et al. A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature 1982; 300(5894):765-7 Related articles (PubMed)
Pasternak G, et al. Chronic myelogenous leukemia: molecular and cellular aspects J Cancer Res Clin Oncol 1998; 124(12):643-60. [Review] Related articles (PubMed)
Medline Search: chronic myelogenous leukemia AND (Philadelphia OR (ABL AND BCR)) (PubMed)
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BMT and Cell Purging in Philadelphia positive CML
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Pratt G, et al. Autologous stem cell transplantation in chronic myeloid leukaemia using Philadelphia chromosome negative blood progenitors mobilised with hydroxyurea and G-CSF Bone Marrow Transplant 1998; 21(5):455-60 Related articles (PubMed)
Veena P, et al. Preferential sequestration in vitro of BCR/ABL negative hematopoietic progenitor cells among cytokine nonresponsive CML marrow CD34+ cells. Bone Marrow Transplant 1997; 19(12):1213-21 Related articles (PubMed)
Carlo-Stella C, et al. Selection of myeloid progenitors lacking BCR/ABL mRNA in chronic myelogenous leukemia patients after in vitro treatment with the tyrosine kinase inhibitor genistein Blood. 1996; 88(8):3091-100 Related articles (PubMed)
Medline Search: chronic myelogenous leukemia AND purging AND bone marrow transplant (PubMed)
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Monitoring of of ABL-BCR in Patients with CML in Remission
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Chomel JC, et al. Persistence of BCR-ABL genomic rearrangement in chronic myeloid leukemia patients in complete and sustained cytogenetic remission after interferon-alpha therapy or allogeneic bone marrow transplantation. Blood 2000 Jan 15;95(2):404-8 Related articles (PubMed)
Martinelli G, et al. Quantification of BCR-ABL transcripts in CML patients in cytogenetic remission after interferon-alpha-based therapy. Bone Marrow Transplant 2000 Apr;25(7):729-36 Related articles (PubMed)
Kiss TL, et al. Comparative testing of peripheral blood and bone marrow for BCR-ABL transcripts in patients post allogeneic bone marrow transplantation and during interferon treatment for chronic myeloid leukemia. Leuk Lymphoma 1999 Aug;34(5-6):493-500 Related articles (PubMed)
Brizard F, et al. Does BCR-ABL genomic rearrangement persist in CML patients in complete remission after interferon alpha therapy? Leukemia 1998 Jul;12(7):1076-80 Related articles (PubMed)
Reiter A, et al. BCR-ABL-positive progenitors in chronic myeloid leukaemia patients in complete cytogenetic remission after treatment with interferon-alpha. Br J Haematol 1998 Sep;102(5):1271-8 Related articles (PubMed)
Hochhaus A, et al. Molecular monitoring of residual disease in chronic myelogenous leukemia patients after therapy. Recent Results Cancer Res 1998;144:36-45 Related articles (PubMed)
Medline Search: chronic myelogenous leukemia AND fusion gene AND remission (PubMed)
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Gene Therapy for CML [EXPERIMENTAL]
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Pinilla-Ibarz J, et al. Vaccination of patients with chronic myelogenous leukemia with bcr-abl oncogene breakpoint fusion peptides generates specific immune responses. Blood 2000 Mar 1;95(5):1781-7 Related articles (PubMed)
Verfaillie CM, et al Gene therapy for chronic myelogenous leukemia. [Review of EXPERIMENTAL stratergies] Mol Med Today 1999; 5(8):359-66 Related articles (PubMed)
Salesse S, et al. Retroviral vector-mediated transfer of the interferon-alpha gene in chronic myeloid leukemia cells Cancer Gene Ther. 1998; 5(6):390-400 Related articles (PubMed)
Zhao RC, et al. Gene therapy for chronic myelogenous leukemia (CML): a retroviral vector that renders hematopoietic progenitors methotrexate-resistant and CML progenitors functionally normal and nontumorigenic in vivo. Blood. 1997; 90(12):4687-98 Related articles (PubMed)
Medline Search: gene therapy AND chronic myelogenous leukemia (PubMed)
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Inhibitors of the BCR/ABL Fusion Oncoprotein.
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le Coutre P, et al. Induction of resistance to the Abelson inhibitor STI571 in human leukemic cells through gene amplification. Blood 2000 Mar 1;95(5):1758-66 Related articles (PubMed)
Dan S, et al. Selective induction of apoptosis in Philadelphia chromosome-positive chronic myelogenous leukemia cells by an inhibitor of BCR - ABL tyrosine kinase, CGP 57148. Cell Death Differ 1998;5(8):710-5 Related articles (PubMed)
Medline Search: leukemia AND (STI571 OR CGP 57148) (PubMed)
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Philadelphia Chromosome in Acute Lymphoblastic Leukaemia
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Medline Search: acute lymphoblastic leukemia AND (Philadelphia OR (ABL AND BCR)) (PubMed)
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Acute Lymphocytic Leukaemia Genetics
Acute Lymphocytic Leukaemia : Clinical and Epidemiological Information
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Philadelphia Chromosome in Childhood A.L.L.
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Heerema NA, et al. Association of chromosome arm 9p abnormalities with adverse risk in childhood acute lymphoblastic leukemia: A report from the Children's Cancer Group. Blood. 1999; 94(5):1537-44 Related articles (PubMed)
Viehmann S, et al. Multiplex PCR-a rapid screening method for detection of gene rearrangements in childhood acute lymphoblastic leukemia Ann Hematol. 1999;78(4):157-62 Related articles (PubMed)
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[Home] This page created: 09/10/1999 Last revised: 29/04/2003 © Copyright 1999-
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