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Updated: Aug 23, 2026

Methyl-binding DNA capture Sequencing for Patient Tissues
Published on: October 31, 2016
Aberrant CBFA2T3B gene promoter methylation in breast tumors
Anthony J Bais1, Alison E Gardner, Olivia L D McKenzie
1Bionomics Limited, Thebarton, Adelaide, SA 5031, Australia. abais@bionomics.com.au
Background:
The CBFA2T3 locus located on the human chromosome region 16q24.3 is frequently deleted in breast tumors. CBFA2T3 gene expression levels are aberrant in breast tumor cell lines and the CBFA2T3B isoform is a potential tumor suppressor gene. In the absence of identified mutations to further support a role for this gene in tumorigenesis, we explored whether the CBFA2T3B promoter region is aberrantly methylated and whether this correlates with expression.
Results:
Aberrant hypo and hypermethylation of the CBFA2T3B promoter was detected in breast tumor cell lines and primary breast tumor samples relative to methylation index interquartile ranges in normal breast counterpart and normal whole blood samples. A statistically significant inverse correlation between aberrant CBFA2T3B promoter methylation and gene expression was established.
Conclusion:
CBFA2T3B is a potential breast tumor suppressor gene affected by aberrant promoter methylation and gene expression. The methylation levels were quantitated using a second-round real-time methylation-specific PCR assay. The detection of both hypo and hypermethylation is a technicality regarding the methylation methodology.
Insights
Aberrant methylation of the CBFA2T3B gene promoter was found in breast tumors, correlating with reduced gene expression. This suggests CBFA2T3B acts as a tumor suppressor gene in breast cancer.
Area of Science:
- Oncology
- Molecular Biology
- Epigenetics
Background:
- The CBFA2T3 locus on chromosome 16q24.3 is frequently deleted in breast tumors.
- Aberrant CBFA2T3 gene expression is observed in breast tumor cell lines.
- The CBFA2T3B isoform is a candidate tumor suppressor gene.
Purpose of the Study:
- Investigate aberrant methylation of the CBFA2T3B promoter region.
- Determine the correlation between CBFA2T3B promoter methylation and gene expression in breast tumors.
Main Methods:
- Analysis of CBFA2T3B promoter methylation in breast tumor cell lines and primary tumors.
- Quantification of methylation levels using a second-round real-time methylation-specific PCR assay.
- Comparison of methylation status in tumor samples versus normal breast and blood samples.
Main Results:
- Aberrant DNA methylation (both hypo- and hypermethylation) of the CBFA2T3B promoter was detected in breast tumors.
- A significant inverse correlation was established between aberrant promoter methylation and CBFA2T3B gene expression.
- Methylation patterns differed from normal breast and blood samples.
Conclusions:
- CBFA2T3B functions as a potential tumor suppressor gene in breast cancer.
- Aberrant promoter methylation is a key mechanism affecting CBFA2T3B expression in breast tumors.
- Methylation analysis revealed both hypomethylation and hypermethylation, reflecting methodological aspects.
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