Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894421
rs104894421
0.700 GeneticVariation UNIPROT

dbSNP: rs121434629
rs121434629
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913250
rs121913250
0.700 GeneticVariation UNIPROT

dbSNP: rs397507476
rs397507476
G 0.700 GeneticVariation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009

dbSNP: rs397507476
rs397507476
G 0.700 GeneticVariation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008

dbSNP: rs397507476
rs397507476
G 0.700 GeneticVariation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006

dbSNP: rs61753793
rs61753793
0.700 GeneticVariation UNIPROT

dbSNP: rs6413463
rs6413463
0.700 GeneticVariation UNIPROT

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Although many imatinib-resistant mutations respond well to second-generation TKIs, the threonine-to-isoleucine mutation at codon 315 of the breakpoint cluster region/v-abl Abelson murine leukemia viral oncogene protein fusion Bcr-Abl (T315I) is insensitive to all currently available TKIs. 20564073

2010

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Given the fact that all AKIs fail to inhibit BCR/ABL harboring the 'gatekeeper' mutation T315I, we investigated the effects of AKIs in combination with the allosteric inhibitor GNF2 in Ph + leukemia. 22985168

2012

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE In BCR/ABL- or BCR/ABL-T315I-driven murine leukemia as well as in xenograft models of primary Ph+ leukemia harboring the T315I, PF-114 significantly prolonged survival to a similar extent as ponatinib. 25394714

2015

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE MK-0457 has important activity in patients with leukemias expressing the highly resistant T315I BCR-ABL mutation. 22772060

2013

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE More importantly, ON012380 was found to induce apoptosis of all of the known imatinib-resistant mutants at concentrations of <10 nM concentration in vitro and cause regression of leukemias induced by i.v. injection of 32Dcl3 cells expressing the imatinib-resistant BCR-ABL isoform T315I.Daily i.v. dosing for up to 3 weeks with a >100 mg/kg concentration of this agent is well tolerated in rodents, without any hematotoxicity. 15677719

2005

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Collectively, the present results suggest that in the treatment of leukemia, taxodione has potential as a compound with high efficacy to overcome BCR-ABL T315I mutation-mediated resistance in leukemia cells. 29859988

2018

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE The resistance to the tyrosine kinase inhibitor imatinib in BCR/ABL-positive leukemias is mostly associated with mutations in the kinase domain of BCR/ABL, which include the most prevalent mutations E255K and T315I. 15194504

2004

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE One mutation, T315I, for example, renders the leukemia resistant to all first- and second-line TKIs. 23666688

2013

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Although strategies to overcome resistance-mediated T315I mutation may improve the survival of BCR-ABL-positive leukemia patients, there is little information on cell-based studies. 20471447

2010

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Surprisingly, inhibition of AurA by AKI603 induced leukemia cell senescence in both BCR-ABL wild type and T315I mutation cells. 27824120

2016

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Allogeneic stem cell transplantation for patients harboring T315I BCR-ABL mutated leukemias. 21926354

2011

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE KW-2449, a multikinase inhibitor of FLT3, ABL, ABL-T315I, and Aurora kinase, is under investigation to treat leukemia patients. 19541823

2009

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE T315I mutation of BCR-ABL1 into human Philadelphia chromosome-positive leukemia cell lines by homologous recombination using the CRISPR/Cas9 system. 29967475

2018

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Ponatinib-Induced Graft-versus-Host Disease/Graft-versus-Leukemia Effect in a Patient with Philadelphia-Positive Acute Lymphoblastic Leukemia without the T315I Mutation Relapsing after Allogeneic Transplant. 28810255

2017

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Ponatinib is the only currently approved tyrosine kinase inhibitor (TKI) that suppresses all BCR-ABL1 single mutants in Philadelphia chromosome-positive (Ph(+)) leukemia, including the recalcitrant BCR-ABL1(T315I) mutant. 25132497

2014

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Some emerging aurora kinase inhibitors, such as VX-680, PHA-739358, MK-0457 and AS703569, and Smo1 and Hedgehog (Hh) inhibitors promise clinical efficacy against the Bcr-Ab T315I mutant form and leukaemia stem cells, respectively. 19959093

2009

dbSNP: rs121913459
rs121913459
0.100 GeneticVariation BEFREE Here we combine comprehensive drug sensitivity and resistance profiling of patient cells ex vivo with structural analysis to establish the VEGFR tyrosine kinase inhibitor axitinib as a selective and effective inhibitor for T315I-mutant BCR-ABL1-driven leukaemia. 25686603

2015