Overview

Location [1]
16q22.1
Protein [2]
Core-binding factor subunit beta
Synonyms [1]
PEBP2B

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 1.18% of all cancers with breast carcinoma, colorectal adenocarcinoma, non-small cell lung carcinoma, ovarian neoplasm, and uterine corpus neoplasm having the greatest prevalence of alterations [3].

CBFB GENIE Cases - Top Diseases

The most common alterations in CBFB are CBFB X55_splice (0.09%), CBFB Loss (0.08%), CBFB Amplification (0.05%), CBFB P70Sfs*13 (0.05%), and CBFB N104S (0.01%) [3].

CBFB GENIE Cases - Top Alterations

Significance of CBFB in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Acute Biphenotypic Leukemia +

Chronic Lymphocytic Leukemia +

Hodgkin Lymphoma +

Multiple Myeloma +

Non-Hodgkin Lymphoma +

Refractory Anemia With Excess Blasts +

Acute Leukemia +

Acute Promyelocytic Leukemia +

Chronic Myelomonocytic Leukemia +

Double-Hit Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Myeloproliferative Neoplasm +

Small Lymphocytic Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Lymphoma +

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 +

Adult T-Cell Leukemia/Lymphoma +

Anaplastic Large Cell Lymphoma +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

B-Cell Non-Hodgkin Lymphoma +

Burkitt Lymphoma +

Core Binding Factor Acute Myeloid Leukemia +

Diffuse Large B-Cell Lymphoma +

Follicular Lymphoma +

Juvenile Myelomonocytic Leukemia +

Lymphoplasmacytic Lymphoma +

Mantle Cell Lymphoma +

Marginal Zone Lymphoma +

Mature B-Cell Lymphoma/Leukemia +

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

Mediastinal Large B-Cell Lymphoma +

Myelofibrosis +

Myeloid Sarcoma +

Prolymphocytic Leukemia +

Refractory Anemia +

Refractory Anemia With Excess Blasts-2 +

Small Lymphocytic Leukemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.