Overview

Gene Location [1]
11q23.3
Pathway
Receptor tyrosine kinase/growth factor signaling
Gene
CBL

CBL Mutation is present in 1.63% of AACR GENIE cases, with lung adenocarcinoma, cutaneous melanoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, and melanoma having the greatest prevalence [4].

Top Disease Cases with CBL Mutation

Significance of CBL Mutation in Diseases

Acute Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Myelodysplastic Syndromes +

Juvenile Myelomonocytic Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Neoplasm +

Therapy-Related Myelodysplastic Syndrome +

Non-Small Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

B-Cell Acute Lymphoblastic Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Neurofibromatosis Type 1 +

Secondary Acute Myeloid Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

Therapy-Related Acute Myeloid Leukemia +

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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

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

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