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
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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.