Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
21q22.12
Protein [2]
Runt-related transcription factor 1
Synonyms [1]
CBF2alpha, AML1-EVI-1, AMLCR1, PEBP2aB, CBFA2, AML1, PEBP2alpha, EVI-1

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 2.04% of all cancers with breast invasive ductal carcinoma, acute myeloid leukemia, myelodysplastic syndromes, lung adenocarcinoma, and breast invasive lobular carcinoma having the greatest prevalence of alterations [3].

RUNX1 GENIE Cases - Top Diseases

The most common alterations in RUNX1 are RUNX1 Mutation (2.33%), RUNX1 c.170-c.1439 Missense (1.31%), RUNX1 Frameshift (0.68%), RUNX1 c.298-c.629 Missense (0.49%), and RUNX1 Nonsense (0.26%) [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 +

Acute Biphenotypic Leukemia +

Chronic Lymphocytic Leukemia +

Myeloproliferative Neoplasm +

Myelodysplastic/Myeloproliferative Neoplasm +

Double-Hit Lymphoma +

Refractory Anemia With Excess Blasts +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Acute Leukemia +

Lymphoma +

Acute Promyelocytic Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Small Lymphocytic Lymphoma +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

B-Cell Non-Hodgkin Lymphoma +

Diffuse Large B-Cell Lymphoma +

Juvenile Myelomonocytic Leukemia +

Mantle Cell Lymphoma +

Mixed Phenotype Acute Leukemia +

Refractory Anemia With Excess Blasts-2 +

Secondary Myelodysplastic Syndrome +

T-Cell Acute Lymphoblastic Leukemia +

Myelofibrosis +

Bladder Carcinoma +

Breast Carcinoma +

Melanoma +

Glioblastoma +

Colorectal Carcinoma +

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Sarcoma +

Ovarian Carcinoma +

Acute Bilineal Leukemia +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

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

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

Acute Undifferentiated Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Anaplastic Astrocytoma +

Anaplastic Large Cell Lymphoma +

Aplastic Anemia +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

B-Cell Acute Lymphoblastic Leukemia +

Burkitt Lymphoma +

Core Binding Factor Acute Myeloid Leukemia +

Follicular Lymphoma +

Head And Neck Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Marginal Zone Lymphoma +

Mature B-Cell Lymphoma/Leukemia +

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

Mature T-Cell And NK-Cell Neoplasm +

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

Primary Myelofibrosis +

Prolymphocytic Leukemia +

Refractory Anemia +

Small Lymphocytic Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

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. 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.

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