Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE The second-generation BCR-ABL inhibitors nilotinib (Tasigna; Novartis) and dasatinib (Sprycel; Bristol-Myers Squibb) have shown significant activity after imatinib failure in clinical trials, but still face similar obstacles to imatinib, including negligible activity against the frequent BCR-ABL T315I mutation and modest effects in advanced phases of CML. 17853901

2007

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE The results of 12 serial samples from 2 patients (case A: Philadelphia-positive acute lymphoblastic leukemia and case B: CML) with the T315I mutant clone were compared with those of direct sequencing or 2 kinds of allele-specific oligonucleotide (ASO)-PCR. 21867983

2011

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE Ultra-deep sequencing leads to earlier and more sensitive detection of the tyrosine kinase inhibitor resistance mutation T315I in chronic myeloid leukemia. 27102501

2016

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE Here, we report the hematological, cytogenetic, and molecular response of a patient with refractory CML in chronic phase with e19a2 transcripts, carrying T315I mutation that was successfully treated with ponatinib. 24766374

2015

dbSNP: rs121913459
rs121913459
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

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE The described test is useful for detection and relative quantification of the T315I point mutation in chronic myelogenous leukaemia in a sensitive, specific and reproducible manner. 21486895

2011

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE Here we studied mechanisms of acquired resistance of chronic myeloid leukemia (CML) to tyrosine kinase inhibitors (TKIs) by examining genome-wide gene expression changes in KCL-22 CML cells versus their resistant KCL-22M cells that acquire T315I BCR-ABL mutation following TKI exposure. 24967705

2014

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE BMS-214662 was cytotoxic against CML blast crisis stem/progenitor cells, particularly in combination with a tyrosine kinase inhibitor and equally effective in cell lines harboring wild-type vs mutant BCR-ABL, including the T315I mutation. 18156496

2008

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE Ponatinib is approved for the treatment of adults with T315I-positive chronic-, accelerated- or blast-phase chronic myeloid leukaemia (CML), or Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukaemia (ALL) [in the EU and the USA], as well as those with chronic-, accelerated- or blast-phase CML, or Ph+ ALL who are resistant or intolerant to prior tyrosine kinase inhibitor therapy (EU) or for whom no other tyrosine kinase inhibitor therapy is indicated (USA). 24807266

2014

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE The aim of this study was to evaluate the behavior of T315I mutated cells and to study the presence of potential additional mutations in progenitors and stem cells from a patient with CML. 20929330

2010

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE Taken together, our data demonstrate that the small molecule AurA inhibitor AKI603 may be used to overcome drug resistance induced by BCR-ABL-T315I mutation in CML. 27824120

2016

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE A new rapid and sensitive assay for detecting the T315I BCR-ABL kinase domain mutation in chronic myeloid leukaemia. 18587017

2008

dbSNP: rs121913459
rs121913459
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

dbSNP: rs121913459
rs121913459
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

dbSNP: rs121913459
rs121913459
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

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE AHI1 gene expression levels and BCR-ABL1 T315I mutations in chronic myeloid leukemia patients. 22183070

2011

dbSNP: rs121913459
rs121913459
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

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE These results unravel a new molecular target of Btz, that is the Rb pathway, and open new possibilities in the treatment of CML especially for patients that become resistant to IM because of the presence of the T315I mutation. 20305692

2010

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE Second generation TKIs dasatinib and nilotinib have shown promising results in imatinibresistant or intolerant CML patients, but are not active against CML clones with highly resistant T315I mutation. 22483154

2012

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE SHC004-221A1, a novel tyrosine kinase, potently inhibits T315I mutant BCR-ABL in chronic myeloid leukemia. 28595903

2017

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE Interestingly, this substitution is a homologue to the T315I mutation already reported in CML, where it is responsible for acquired resistance to imatinib. 15236194

2004

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE Expanded distribution of the T315I mutation among hematopoietic stem cells and progenitors in a chronic myeloid leukemia patient during imatinib treatment. 20963643

2010

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE The third-generation tyrosine kinase inhibitor (TKI) ponatinib shows activity against all common BCR-ABL1 single mutants, including the highly resistant BCR-ABL1-T315I mutant, improving outcome for patients with refractory chronic myeloid leukemia (CML). 26773037

2016

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE Assessment and follow-up of the proportion of T315I mutant BCR-ABL transcripts can guide appropriate therapeutic decision making in CML patients. 16038734

2005

dbSNP: rs121913459
rs121913459
0.800 GeneticVariation BEFREE In this study, we show that human homolog double minute 2 (HDM2) inhibition, with MI-219-a novel compound, and consequently p53 stabilization induce chronic myeloid leukemia (CML) blast crisis cells to undergo apoptosis regardless of the presence of the T315I mutation in the BCR-ABL kinase domain. 21350558

2011