Overview

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

IKZF1 Loss is present in 0.17% of AACR GENIE cases, with B-cell lymphoblastic leukemia/lymphoma, prostate adenocarcinoma, leiomyosarcoma, breast invasive lobular carcinoma, and breast invasive ductal carcinoma having the greatest prevalence [4].

Top Disease Cases with IKZF1 Loss

Significance of IKZF1 Loss in Diseases

Acute Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Anaplastic Large Cell Lymphoma +

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 Acute Lymphoblastic Leukemia +

Hodgkin Lymphoma +

Lymphoblastic Lymphoma +

Myelofibrosis +

Myeloproliferative Neoplasm +

Plasma Cell Leukemia +

Prolymphocytic Leukemia +

Acute Leukemia +

Acute Biphenotypic Leukemia +

Acute Undifferentiated Leukemia +

B-Cell Prolymphocytic Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Myelodysplastic Syndrome With Excess Blasts-1 +

Myelodysplastic Syndrome With Excess Blasts-2 +

Non-Hodgkin Lymphoma +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Myelodysplastic Syndrome +

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.