Location [1]
Protein [2]
Core-binding factor subunit beta
Synonyms [1]

Core-binding factor, beta subunit (CBFB) is a gene that encodes a protein that is the beta subunit in a core-binding transcription factor of the PEBP2/CBF family. The protein functions in the regulation of genes that are involved in hematopoiesis. Fusions, missense and nonsense mutations are observed in cancers such as breast cancer and intestinal cancer.

CBFB is altered in 1.05% of all cancers with breast invasive ductal carcinoma, breast invasive lobular carcinoma, invasive breast carcinoma, mixed lobular and ductal breast carcinoma, and lung adenocarcinoma having the greatest prevalence of alterations [3].

CBFB GENIE Cases - Top Diseases

The most common alterations in CBFB are CBFB Mutation (0.67%), CBFB X55_splice (0.14%), CBFB Loss (0.12%), CBFB Amplification (0.07%), and CBFB P70fs (0.06%) [3].

CBFB GENIE Cases - Top Alterations

Significance of CBFB in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Multiple Myeloma +

Non-Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia +

Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

Chronic Myelomonocytic Leukemia +

Myeloproliferative Neoplasm +

Refractory Anemia With Excess Blasts +

Acute Promyelocytic Leukemia +

Double-Hit Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Small Lymphocytic Lymphoma +

Acute Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

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

Mediastinal Large B-Cell Lymphoma +

Core Binding Factor Acute Myeloid Leukemia +

Diffuse Large B-Cell Lymphoma +

Mantle Cell Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Lymphoma +

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

Adult T-Cell Leukemia/Lymphoma +

Anaplastic Large Cell Lymphoma +

Aplastic Anemia +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

Burkitt Lymphoma +

Follicular Lymphoma +

Juvenile Myelomonocytic Leukemia +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Marginal Zone Lymphoma +

Mature B-Cell Lymphoma/Leukemia +

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

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelofibrosis +

Prolymphocytic Leukemia +

Refractory Anemia +

Secondary Acute Myeloid Leukemia +

Small Lymphocytic Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myelodysplastic Syndrome +


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 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.