Associated Genetic Biomarkers
Associated Diseases


Location [1]
Protein [2]
Runt-related transcription factor 1
Synonyms [1]
PEBP2alpha, PEBP2aB, CBF2alpha, EVI-1, AML1-EVI-1, AML1, CBFA2, AMLCR1

Runt-related transcription factor 1 (RUNX1; also known as AML1) is a gene that codes for runt-related transcription factor 1, the alpha subunit of the core binding factor protein. This protein is thought to take part in regulating expression of multiple genes involved in normal hematopoiesis (Gene 2013PMID: 14556655). RUNX1 is involved in translocations observed in hematologic malignancies, including AML, ALL, and myelodysplastic syndromes. Its role in cancer is also being investigated in promyelocytic leukemia, as well as in solid tumors such as endometrial, ovarian, and breast cancer. In addition, germline RUNX1 mutations, deletions, and translocations have been associated with conditions that predispose individuals to myeloid malignancies (PMID: 24136165PMID: 11830488; NCCN 2014PMID: 10508512).

RUNX1 is altered in 2.50% of all cancers with breast invasive ductal carcinoma, acute myeloid leukemia, colon adenocarcinoma, lung adenocarcinoma, and myelodysplastic syndromes having the greatest prevalence of alterations [3].

RUNX1 GENIE Cases - Top Diseases

The most common alterations in RUNX1 are RUNX1 Mutation (1.50%), RUNX1 c.170-c.1439 Missense (1.12%), RUNX1 c.298-c.629 Missense (0.51%), RUNX1 Exon 8 Mutation (0.36%), and RUNX1 Exon 4 Mutation (0.31%) [3].

RUNX1 GENIE Cases - Top Alterations

Significance of RUNX1 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myelomonocytic Leukemia +

Chronic Myeloid Leukemia +

Non-Hodgkin Lymphoma +

Hodgkin Lymphoma +

Multiple Myeloma +

Secondary Acute Myeloid Leukemia +

Acute Biphenotypic Leukemia +

Chronic Lymphocytic Leukemia +

Refractory Anemia With Excess Blasts +

Myelodysplastic/Myeloproliferative Neoplasm +

Therapy-Related Acute Myeloid Leukemia +

Myeloproliferative Neoplasm +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Double-Hit Lymphoma +

T-Cell Acute Lymphoblastic Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Acute Promyelocytic Leukemia +

Acute Leukemia +

B-Cell Non-Hodgkin Lymphoma +

Small Lymphocytic Lymphoma +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Secondary Myelodysplastic Syndrome +

Therapy-Related Myelodysplastic Syndrome +

Myelofibrosis +

Diffuse Large B-Cell Lymphoma +

Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Acute Bilineal Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Juvenile Myelomonocytic Leukemia +

Mantle Cell Lymphoma +

Refractory Anemia +

Acute Myeloid Leukemia With t(8;21); (Q22; Q22.1); RUNX1-RUNX1T1 +

Chronic Myelomonocytic Leukemia-2 +

Mixed Phenotype Acute Leukemia +

Myeloid Sarcoma +

Core Binding Factor Acute Myeloid Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Chronic Myelomonocytic Leukemia-0 +

Leukemia +

Myeloid Neoplasm +

Waldenstrom Macroglobulinemia +

Chronic Myelomonocytic Leukemia-1 +

Primary Myelofibrosis +

Lymphoplasmacytic Lymphoma +

Melanoma +

Bladder Carcinoma +

Glioblastoma +

Breast Carcinoma +

Colorectal Carcinoma +

Malignant Solid Tumor +

Anaplastic Astrocytoma +

Non-Small Cell Lung Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Head And Neck Carcinoma +

T-Cell Non-Hodgkin Lymphoma +

Polycythemia Vera +

Ovarian Carcinoma +

Indolent Non-Hodgkin Lymphoma +

Mature T-Cell And NK-Cell Neoplasm +

Sarcoma +

Pancreatic Carcinoma +

Follicular Lymphoma +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia With Inv(16)(P13.1q22) Or t(16;16)(P13.1;Q22); CBFB-MYH11 +

Acute Undifferentiated Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Anaplastic Large Cell Lymphoma +

Aplastic Anemia +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

Burkitt Lymphoma +

Lymphoblastic Lymphoma +

Marginal Zone Lymphoma +

Mature B-Cell Lymphoma/Leukemia +

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

Mediastinal Large B-Cell Lymphoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

Prolymphocytic Leukemia +

Small Lymphocytic Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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 8. 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.