Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
9q34.12
Pathway
Kinase fusions
Protein [2]
Tyrosine-protein kinase ABL1
Synonyms [1]
c-ABL1, ABL, p150, CHDSKM, JTK7, bcr/abl, v-abl, c-ABL

ABL proto-oncogene 1, non-receptor tyrosine kinase (ABL1) is a gene that encodes a protein non-receptor tyrosine kinase with DNA-binding activity. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame insertions and deletions are observed in cancers such as hematopoietic and lymphoid cancers.

ABL1 is altered in 1.36% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

ABL1 GENIE Cases - Top Diseases

The most common alterations in ABL1 are ABL1 Mutation (1.95%), ABL1 Loss (0.05%), ABL1 P784A (0.02%), ABL1 R785Gfs*3 (0.02%), and ABL1 G251D (0.02%) [3].

ABL1 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of ABL1 in Diseases

Chronic Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Hodgkin Lymphoma +

Multiple Myeloma +

Non-Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Chronic Lymphocytic Leukemia +

Chronic Myelomonocytic Leukemia +

Mantle Cell Lymphoma +

Acute Leukemia +

Burkitt Lymphoma +

Myeloproliferative Neoplasm +

Anaplastic Large Cell Lymphoma +

Lymphoma +

Follicular Lymphoma +

Juvenile Myelomonocytic Leukemia +

Marginal Zone Lymphoma +

Myelofibrosis +

Secondary Acute Myeloid Leukemia +

Diffuse Large B-Cell Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Lymphoblastic Lymphoma +

Prolymphocytic Leukemia +

Refractory Anemia With Excess Blasts +

Lymphoplasmacytic Lymphoma +

Small Lymphocytic Lymphoma +

T-Cell Acute Lymphoblastic Leukemia +

B-Cell Non-Hodgkin Lymphoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Acute Undifferentiated Leukemia +

Double-Hit Lymphoma +

Mixed Phenotype Acute Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm +

Refractory Anemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Therapy-Related Myelodysplastic Syndrome +

Malignant Solid Tumor +

Myelodysplastic Syndrome With Excess Blasts-2 +

Plasma Cell Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Urothelial Carcinoma +

Leukemia +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

B-Cell Prolymphocytic Leukemia +

Burkitt Leukemia +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

T-Cell Non-Hodgkin Lymphoma +

T-Cell Prolymphocytic Leukemia +

Melanoma +

Bladder Carcinoma +

Non-Small Cell Lung Carcinoma +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Solid Neoplasm +

Cancer +

Gastric Carcinoma +

Malignant Salivary Gland Neoplasm +

Pancreatic Carcinoma +

Acute Bilineal Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Promyelocytic Leukemia +

Adenocarcinoma Of The Gastroesophageal Junction +

Adult Acute Lymphoblastic Leukemia +

Aplastic Anemia +

B-Cell Lymphoblastic Leukemia/Lymphoma +

Desmoplastic Small Round Cell Tumor +

Esophageal Carcinoma +

Ewing Sarcoma +

Gastrointestinal Stromal Tumor +

Histiocytic And Dendritic Cell Neoplasm +

Indolent Non-Hodgkin Lymphoma +

Lip And Oral Cavity Carcinoma +

Malignant Laryngeal Neoplasm +

Mature B-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Sarcoma +

Nasal Cavity And Paranasal Sinus Carcinoma +

Nasopharyngeal Carcinoma +

Neuroblastoma +

Oropharyngeal Carcinoma +

Plasma Cell Neoplasm +

Polycythemia Vera +

Primary Myelofibrosis +

Refractory Anemia With Excess Blasts-1 +

Rhabdomyosarcoma +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myeloid Neoplasm +

Waldenstrom Macroglobulinemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.