rs121913459, ABL1

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Taken together, we provide chronic myeloid leukemia tailored BCR-ABL1p210 and BCR-ABL1p210/T315I fly model which can be used to test new compounds with improved therapeutic indices. 31101753 2020
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Preclinical development of a novel BCR-ABL T315I inhibitor against chronic myeloid leukemia. 31837444 2020
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE We also investigated the functional relevance of HMGCLL1 blockade with respect to response to TKI therapy and showed that small interfering RNA mediated blockade of HMGCLL1 isoform 3 results in significant decrease in viability of BCR-ABL1-positive cells including K562, CML-T1 or BaF3 cell lines with or without ABL1 kinase domain mutations such as T315I mutation. 30555164 2019
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE In chronic myeloid leukemia (CML), resistance against second-generation tyrosine kinase inhibitors (TKI) remains a serious clinical challenge, especially in the context of multi-resistant BCR-ABL1 mutants, such as T315I. 30711891 2019
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Most remarkably, ATO/IFN significantly prolonged the survival of primary T315I-CML mice and displayed a dramatic impairment of disease engraftment in secondary mice, which reflected decreased LIC activity. 31034603 2019
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE HQP1351, an orally bioavailable multikinase BCR-ABL inhibitor, is currently in clinical trials for the treatment of T315I mutant chronic myelogenous leukemia (CML), but the potential application in imatinib-resistant GISTs carrying secondary KIT mutations has not been explored. 31673329 2019
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE We assessed ponatinib for nine patients with recurrent Ph+ CNSL and a T315I mutation after allo-HSCT, including five patients with Ph+ acute lymphoblastic leukemia and four with chronic myelogenous leukemia. 31785158 2019
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE HU and the CDK4/CDK6-blocker palbociclib inhibit growth of CML clones expressing BCR-ABL1<sup>T315I</sup> or complex T315I-including compound-mutations. 31761618 2019
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Ponatinib is a third-generation TKI that is currently approved as per label when no other TKIs are indicated for the treatment of patients with CML and Ph+ ALL after failing treatment with second-generation TKIs or if presence of T315I mutation is discovered. 30251548 2019
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Ponatinib (AP24534) is currently the only approved CML drug that is active against the ABL1(T315I) mutation. 29608815 2018
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Ponatinib is active against all BCR-ABL1 mutants, including T315I, and is widely used to treat patients who developed resistance to other TKIs in any CML phase; however, only limited data is available on the possible role of ponatinib for intolerant patients. 29845876 2018
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Discovery of (E)-N-(4-((4-methylpiperazin-1-yl)methyl)-3-(trifluoromethyl)phenyl)-3-((3-(2-(pyridin-2-yl)vinyl)-1H-indazol-6-yl)thio)propanamide (CHMFL-ABL-121) as a highly potent ABL kinase inhibitor capable of overcoming a variety of ABL mutants including T315I for chronic myeloid leukemia. 30317026 2018
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Ponatinib induces a sustained deep molecular response in a chronic myeloid leukaemia patient with an early relapse with a T315I mutation following allogeneic hematopoietic stem cell transplantation: a case report. 30526517 2018
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Alternative strategies to specifically target T315I-BCR-ABL are needed for the treatment of CML patients harboring such a mutation. 29358661 2018
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE For this reason, ponatinib is currently indicated for the treatment of chronic myeloid leukaemia (CML) in every phase of disease resistant and/or intolerant to dasatinib and nilotinib and for whom imatinib is not indicated anymore or for patients with T315I mutation. 28969556 2018
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE In the United States, ponatinib has received accelerated approval for adults with T315I-positive chronic myeloid leukemia (CML) or T315I (gatekeeper mutation)-positive, Philadelphia chromosome-positive, acute lymphoblastic leukemia (Ph + ALL), and patients with CML or Ph + ALL for whom no other TKI therapy is indicated. 28184964 2017
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Here we further report that (i) PtPT induces apoptosis in Bcr-Abl wild-type and Bcr-Abl-T315I mutation cells including the primary mononuclear cells from CML patients clinically resistant to IM, as well as inhibits the growth of IM-resistant Bcr-Abl-T315I xenografts in vivo; (ii) PtPT downregulates Bcr-Abl level through restraining Bcr-Abl transcription, and decreasing Bcr-Abl protein mediated by DUBs inhibition-induced caspase activation; (iii) UPS inhibition is required for PtPT-induced caspase activation and cell apoptosis. 28682311 2017
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE We have now demonstrated that protein expression of human estrogen receptor alpha 36 (ERα36), an alternative splicing variant of human estrogen receptor alpha 66 (ERα66), is highly increased in TKI-insensitive CD34+ chronic myeloid leukemia (CML) cells and BCR-ABL-T315I mutant cells, and is abnormally localized in plasma membrane and cytoplasm. 28599273 2017
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE In addition, this agent was equally effective in inhibiting the Wnt/β‑catenin signaling in wild‑type and T315I BCR‑ABL CML cells. 28990077 2017
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE SHC004-221A1, a novel tyrosine kinase, potently inhibits T315I mutant BCR-ABL in chronic myeloid leukemia. 28595903 2017
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE ARDAP derivative <b>10</b> inhibited the proliferation of BCR/ABL-expressing KU812 and LAMA84 cells from chronic myeloid leukemia (CML) patients in blast crisis and of hematopoietic cells ectopically expressing the imatinib mesylate (IM)-sensitive KBM5-WT or its IM-resistant KBM5-T315I mutation. 28523104 2017
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Taken together, our data demonstrate that the lower growth ability of KBM5-T315I CML cells might be related to the decreased expression of glycolysis-related genes and ROS levels, and this will be used to identify therapeutic targets for imatinib resistance in CML. 26854822 2016
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE In a xenograft model, PD0332991, but not imatinib, suppressed dissemination of Ph(+) ALL having the T315I mutation and prolonged survival, demonstrating that this reagent would be a new therapeutic modality for relapsed CML-LC and Ph(+) ALL patients after treatment with tyrosine kinase inhibitors. 26637365 2016
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE To our knowledge, this is the second case of a T315I-bearing chronic myeloid leukemia patient displaying satisfactory response to the combination therapy of dasatinib and IFN-α. 27347777 2016
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Bone marrow transplantation or ponatinib treatment are currently recommended strategies for management of patients with chronic myeloid leukemia (CML) harboring the T315I mutation and compound or polyclonal mutations. 27214026 2016