Gene

ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

Explore in graph →CI-GENE-00000153HGNC:76 ENSG00000097007 NCBI 25 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (617)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 151–200 of 617 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
ABL1 E255K + ABL1 V299L + ABL1 Fusion1
Dasatinib + PonatinibSubstitutes	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D

Cohorts

Alteration frequency by cohort (122)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved122 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Cutaneous Squamous Cell Carcinoma (DFCI, Clin Cancer Res 2015) cscc_dfarber_2015	Skin Squamous Cell Carcinoma	Ssm

Literature

Linked publications (65)

25 per page, newest first.

pubmedPublishedShowing 51–65 of 65 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

RCSD1-ABL1 Translocation Associated with IKZF1 Gene Deletion in B-Cell Acute Lymphoblastic Leukemia.
· Case Rep Hematol · 2015 · PMID 26600955 · validated civic_curation pubmed
Diagnostic evaluation of RNA sequencing for the detection of genetic abnormalities associated with Ph-like acute lymphoblastic leukemia (ALL).
· Leuk Lymphoma · 2017 · PMID 27855558 · validated civic_curation pubmed
BCR-ABL1-like B-Lymphoblastic Leukemia/Lymphoma with FOXP1-ABL1 Rearrangement: Comprehensive Laboratory Identification Allowing Tyrosine Kinase Inhibitor Use.
· Lab Med · 2019 · PMID 30938769 · validated civic_curation pubmed
SNX2-ABL1-positive acute lymphoblastic leukemia possibly has a poor prognosis.
· Leuk Lymphoma · 2017 · PMID 28278724 · validated

ABL1 E255V + ABL1 Fusion17
Axitinib	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Resistance	2	accepted	EID4441 In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba/F3 cells carrying the BCR-ABL1 variant showed increased incorporation when harboring fusions with t… (full text at CIViC) PMID 25686603 · Pemovska et al., 2015 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Resistance	2	accepted	EID4442 In an in vitro study, a pro-B Ba/F3 cell line expressing E255V mutation in the ABL1 portion of the BCR-ABL1 fusion protein (overexpression) demonstrated resistance to axitinib treatment (IC50: 1015nM)… (full text at CIViC) PMID 26582647 · Zabriskie et al., 2016 · Open in CIViC	civic
Bosutinib	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	C	Does Not Support Resistance	2	accepted	EID4443 In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and BCR-ABL fusions, were treated with bosutanib monotherapy. Complete hematologic response (CHR) and ma… (full text at CIViC) PMID 21865346 · Cortes et al., 2011 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	C	Supports Reduced Sensitivity	1	accepted	EID4444 This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretreated with imatinib aimed at evaluating the efficacy of bosutanib monotherapy. All patients had chro… (full text at CIViC) PMID 22371878 · Khoury et al., 2012 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Sensitivity Response	2	submitted	EID4445 In an in vitro study, a Ba/F3 murine cell line stably expressing the E255V mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with reduced sensitivity to bosutinib treatment (I… (full text at CIViC) PMID 19075254 · Redaelli et al., 2009 · Open in CIViC	civic
Dasatinib	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	B	Does Not Support Resistance	3	accepted	EID4447 This is a retrospective study of imatinib-resistant (n = 805) or -intolerant (n = 238), chronic myeloid leukemia (chronic-phase), patients with mutations in the BCR-ABL gene fusion kinase domain from … (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	C	Does Not Support Resistance	3	accepted	EID4448 Three chronic myeloid leukemia patients had the BCR-ABL1 fusion with the E255V secondary variant in one or more bacterial clones generated using peripheral blood RNA. They had no best cytogenetic resp… (full text at CIViC) PMID 16775234 · Talpaz et al., 2006 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	C	Does Not Support Resistance	1	submitted	EID4446 In this phase II multinational study, patients with accelerated phase CML and BCR-ABL fusions were treated with dasatinib monotherapy. Response rate among 60 imatinib-resistant patients with BCR-ABL m… (full text at CIViC) PMID 17264298 · Guilhot et al., 2007 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Sensitivity Response	2	submitted	EID4449 In an in vitro study, a Ba/F3 cell line stably expressing the E255V mutation in the ABL1 portion of the BCR-ABL1 fusion protein was found to have increased sensitivity to dasatinib treatment, as comp… (full text at CIViC) PMID 15256671 · Shah et al., 2004 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Sensitivity Response	2	submitted	EID4450 In an in vitro study, a Ba/F3 cell line expressing an E255V mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with sensitivity to dasatinib treatment (11.0 nmol/L vs. 0.8 nmol… (full text at CIViC) PMID 15930265 · O'Hare et al., 2005 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Sensitivity Response	2	submitted	EID4451 In an in vitro study, a Ba/F3 cell line stably expressing the E255V mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with reduced sensitivity to dasatinib treatment (IC50: 6.… (full text at CIViC) PMID 19075254 · Redaelli et al., 2009 · Open in CIViC	civic
Imatinib	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	C	Supports Resistance	3	accepted	EID2656 In this study, patients on imatinib monotherapy were monitored for ABL1 kinase domain variants in BCR-ABL1 fusions amplified from peripheral blood RNA. An AP patient had a complete hematologic respons… (full text at CIViC) PMID 12623848 · Branford et al., 2003 · Open in CIViC	civic
Imatinib Mesylate	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	C	Supports Resistance	2	submitted	EID7245 In a phase II study of 60 imatinib-resistant patients with BCR-ABL mutations, 2 had E255V mutations. PMID 17264298 · Guilhot et al., 2007 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	C	Supports Resistance	1	accepted	EID6986 In a study of 39 chronic phase CML patients with BCR-ABL variants, E255V was seen in a single imatinib-resistant patient that was also resistant or intolerant to dasatinib and/or nilotinib treatment. … (full text at CIViC) PMID 22371878 · Khoury et al., 2012 · Open in CIViC	civic
Nilotinib	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Resistance	3	accepted	EID2850 In an in vitro study, a Ba/F3 cell line stably expressing the E255V mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with resistance to nilotinib treatment (IC50: 10.31-fold… (full text at CIViC) PMID 19075254 · Redaelli et al., 2009 · Open in CIViC	civic
Imatinib Mesylate + NilotinibSubstitutes	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	C	Supports Resistance	3	accepted	EID6971 In this open-label, phase II registration trial, patients that were imatinib resistant or intolerant underwent nilotinib monotherapy. Within 12 months of nilotinib therapy, there was no significant di… (full text at CIViC) PMID 19652056 · Hughes et al., 2009 · Open in CIViC	civic
〃	Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS	Predictive	D	Supports Resistance	2	accepted	EID2851 In an in vitro study, a Ba/F3-p210BCR-ABL1 cell line was ENU-mutated and exposed to graded concentrations of imatinib, nilotinib or dasatinib to identify resistance mutations. The E255V mutation in th… (full text at CIViC) PMID 16772610 · Bradeen et al., 2006 · Open in CIViC	civic

ABL1 E255V + ABL1 Fusion17

Axitinib

Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS

Predictive

Supports Resistance

accepted

EID4441

In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba/F3 cells carrying the BCR-ABL1 variant showed increased incorporation when harboring fusions with t… (full text at CIViC)

PMID 25686603 · Pemovska et al., 2015 · Open in CIViC