CBFB

Primary Author(s)*

Brian Davis, PhD

Synonyms

"Core-Binding Factor Beta Subunit"; CBF-Beta; PEBP2B;

Genomic Location

Cytoband: 16q22.1

Genomic Coordinates:

chr16:67,029,116-67,101,058(GRCh38/hg38)

chr16:67,063,019-67,134,961(GRCh37/hg19)

Cancer Category/Type

Acute Myeloid Leukemia (AML);

inv(16)(p13;q22) or t(16)(p13;q22), (CBFB andMYH11) also translocation confer a favorable prognosis in their respective diseases (2, 6)

Gene Overview

The protein encoded by CFBF can bind the protein encoded by RUNX1 to form "Core Binding Factor", a hetero-dimeric transcription factor, which regulates a number of genes responsible for hematopoiesis and osteogenesis (2). The beta subunit is a non-DNA binding regulatory subunit and it allosterically enhances DNA binding by alpha subunit (Runx1 protein). In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype.

Common Alteration Types

Acute Myeloid Leukemia (AML);

inv(16)(p13;q22) or t(16)(p13;q22), (CBFB andMYH11)

Copy Number Loss	Copy Number Gain	LOH	Loss-of-Function Mutation	Gain-of-Function Mutation	Translocation/Fusion
EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X

Internal Pages

Put your text here

EXAMPLE Germline Cancer Predisposition Genes

External Links

Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knnowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) My Cancer Genome, 9) UniProt, 10) Pfam, 11) GeneCards, 12) GeneReviews, and 13) Any gene-specific databases.

EXAMPLES

CBFB by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information

CBFB by COSMIC - sequence information, expression, catalogue of mutations

CBFB by CIViC - general knowledge and evidence-based variant specific information

CBFB by St. Jude ProteinPaint mutational landscape and matched expression data.

CBFB by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs

CBFB by Cancer Index - gene, pathway, publication information matched to cancer type

CBFB by OncoKB - mutational landscape, mutation effect, variant classification

CBFB by My Cancer Genome - brief gene overview

CBFB by UniProt - protein and molecular structure and function

CBFB by Pfam - gene and protein structure and function information

CBFB by GeneCards - general gene information and summaries

CBFB in NCBI - general gene information and summaries

CBFB by OMIM - compendium of human genes and genetic phenotypes

CBFB by LOVD(3) - Leiden Open Variation Database

CBFB by TICdb - database of Translocation breakpoints In Cancer

References

1. Trippier, P. C. (2017). Small molecule inhibitors for acute myeloid leukemia: where is the field heading? Future Med. Chem. 13:1453-1456. PMID 28795593 doi: 10.4155/fmc-2017-0114

2. Bellissimo, D.C. and Speck, N. A. (2017). RUNX1 Mutations in Inherited and Sporadic Leukemia. Front Cell Dev. Biol. 5: 111 PMID 29326930 10.3389/fcell.2017.00111

3. Wang, et al. (2017). Molecular Mutations and Their Cooccurrences in Cytogenetically Normal Acute Myeloid Leukemia. Stem Cells Int. 2017:6962379 PMID 28197208 doi: 10.1155/2017/6962379

4 . Kamikubo, Y. (2018). Genetic compensation of RUNX family transcription factors in leukemia. Cancer Sci. (online version ahead of publication). PMID 29883054 doi.org/10.1111/cas.13664.

5. Schafer, E.S. . et al. (2015). Molecular Genetics of Acute Lymphoblastic Leukemia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.

6. Taylor, J. et al. (2017). Diagnosis and classification of hematologic malignancies on the basis of genetics. Blood. 130:410-423. PMID 28600336 doi: 10.1182/blood-2017-02-734541

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.