Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR Detection of BCR-ABL kinase domain mutations in patients with chronic myeloid leukemia on imatinib. 23676790

2013
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR Contribution of BCR-ABL kinase domain mutations to imatinib mesylate resistance in Philadelphia chromosome positive Malaysian chronic myeloid leukemia patients. 23355941

2012
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR Associations between imatinib resistance conferring mutations and Philadelphia positive clonal cytogenetic evolution in CML. 20607847

2010
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR Rapid clonal shifts in response to kinase inhibitor therapy in chronic myelogenous leukemia are identified by quantitation mutation assays. 20557306

2010
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR Dynamic change of T315I BCR-ABL kinase domain mutation in Korean chronic myeloid leukaemia patients during treatment with Abl tyrosine kinase inhibitors. 19768693

2010
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR New mutations detected by denaturing high performance liquid chromatography during screening of exon 6 bcr-abl mutations in patients with chronic myeloid leukemia treated with tyrosine kinase inhibitors. 19557636

2009
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR We conclude that (a) amino acid substitutions at seven residues (M244V, G250E, Y253F/H, E255K/V, T315I, M351T, and F359V) account for 85% of all resistance-associated mutations; (b) the search for mutations is important both in case of imatinib failure and in case of loss of response at the hematologic or cytogenetic level; (c) advanced-phase chronic myeloid leukemia and Ph+ ALL patients have a higher likelihood of developing imatinib-resistant mutations; and (d) the presence of either P-loop or T315I mutations in imatinib-treated patients should warn the clinician to reconsider the therapeutic strategy. 17189410

2006
dbSNP: rs121913457
rs121913457
ABL1
0.710 GeneticVariation BEFREE We conclude that (a) amino acid substitutions at seven residues (M244V, G250E, Y253F/H, E255K/V, T315I, M351T, and F359V) account for 85% of all resistance-associated mutations; (b) the search for mutations is important both in case of imatinib failure and in case of loss of response at the hematologic or cytogenetic level; (c) advanced-phase chronic myeloid leukemia and Ph+ ALL patients have a higher likelihood of developing imatinib-resistant mutations; and (d) the presence of either P-loop or T315I mutations in imatinib-treated patients should warn the clinician to reconsider the therapeutic strategy. 17189410

2006
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR High incidence of BCR-ABL kinase domain mutations and absence of mutations of the PDGFR and KIT activation loops in CML patients with secondary resistance to imatinib. 14745431

2004
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR Evidence of ABL-kinase domain mutations in highly purified primitive stem cell populations of patients with chronic myelogenous leukemia. 15381060

2004
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR Mutations in the ABL kinase domain pre-exist the onset of imatinib treatment. 12783380

2003
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis. 12623848

2003
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR Molecular and chromosomal mechanisms of resistance to imatinib (STI571) therapy. 12399961

2002
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR High frequency of point mutations clustered within the adenosine triphosphate-binding region of BCR/ABL in patients with chronic myeloid leukemia or Ph-positive acute lymphoblastic leukemia who develop imatinib (STI571) resistance. 11964322

2002
dbSNP: rs121913457
rs121913457
ABL1
C 0.710 GeneticVariation CLINVAR Several types of mutations of the Abl gene can be found in chronic myeloid leukemia patients resistant to STI571, and they can pre-exist to the onset of treatment. 12130516

2002