Gene Location [1]

RUNX1 Mutation is present in 1.50% of AACR GENIE cases, with acute myeloid leukemia, breast invasive ductal carcinoma, colon adenocarcinoma, lung adenocarcinoma, and myelodysplastic syndromes having the greatest prevalence [4].

Top Disease Cases with RUNX1 Mutation

Significance of RUNX1 Mutation in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Chronic Myelomonocytic Leukemia +

Acute Lymphoblastic Leukemia +

Secondary Acute Myeloid Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

T-Cell Acute Lymphoblastic Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Chronic Myeloid Leukemia +

Non-Hodgkin Lymphoma +

Hodgkin Lymphoma +

Multiple Myeloma +

Secondary Myelodysplastic Syndrome +

B-Cell Non-Hodgkin Lymphoma +

Acute Bilineal Leukemia +

Acute Biphenotypic Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Chronic Lymphocytic Leukemia +

Chronic Myelomonocytic Leukemia-2 +

Mixed Phenotype Acute Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myelodysplastic Syndrome With Excess Blasts-2 +

Acute Leukemia +

Refractory Anemia With Excess Blasts +

Leukemia +

Chronic Myelomonocytic Leukemia-0 +

Myelodysplastic/Myeloproliferative Neoplasm +

Primary Myelofibrosis +

Chronic Myelomonocytic Leukemia-1 +

Melanoma +

Bladder Carcinoma +

Myelofibrosis +

Myeloproliferative Neoplasm +

Glioblastoma +

Colorectal Carcinoma +

Breast Carcinoma +

Therapy-Related Myelodysplastic Syndrome +

Malignant Solid Tumor +

Anaplastic Astrocytoma +

Non-Small Cell Lung Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Diffuse Large B-Cell Lymphoma +

Head And Neck Carcinoma +

Lymphoma +

T-Cell Non-Hodgkin Lymphoma +

Polycythemia Vera +

Ovarian Carcinoma +

Indolent Non-Hodgkin Lymphoma +

Mature T-Cell And NK-Cell Neoplasm +

Sarcoma +

Pancreatic Carcinoma +

Double-Hit Lymphoma +

Mantle Cell Lymphoma +

Peripheral T-Cell Lymphoma +

Refractory Anemia +

Waldenstrom Macroglobulinemia +


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.