Associated Genetic Biomarkers

Overview

Gene Location [1]
7p12.2
Pathway
Chromatin remodeling/DNA methylation
Variant Type
Deletion - Frameshift
Gene
IKZF1

IKZF1 Frameshift is present in 0.05% of AACR GENIE cases, with colon adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with IKZF1 Frameshift

Significance of IKZF1 Frameshift in Diseases

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Anaplastic Large Cell Lymphoma +

B-Cell Acute Lymphoblastic Leukemia +

Burkitt Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Chronic Myeloid Leukemia +

Follicular Lymphoma +

Lymphoplasmacytic Lymphoma +

Mantle Cell Lymphoma +

Marginal Zone Lymphoma +

Multiple Myeloma +

Myelodysplastic Syndromes +

B-Cell Prolymphocytic Leukemia +

Hodgkin Lymphoma +

Lymphoblastic Lymphoma +

Mature T-Cell And NK-Cell Neoplasm +

Myelofibrosis +

Myeloproliferative Neoplasm +

Non-Hodgkin Lymphoma +

Plasma Cell Leukemia +

Prolymphocytic 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 6. 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.