Most microsatellite unstable sporadic colorectal carcinomas carry MBD4 mutations
2000
MBD4 mutations in colorectal cancer
publication
Author Information
Author(s): Bader S, Walker M, Harrison D
Primary Institution: C.R.C. Laboratories, Department of Pathology, Molecular Medicine Centre, University of Edinburgh
Hypothesis
Most microsatellite unstable sporadic colorectal carcinomas carry MBD4 mutations.
Conclusion
The study found that the frequency and pattern of MBD4 mutations in microsatellite unstable colorectal tumors are more significant than previously reported.
Supporting Evidence
- The MBD4 gene is involved in the repair of mutation at methyl-CpG dinucleotides.
- MBD4 can itself be mutated at an exonic polynucleotide tract in microsatellite unstable tumors.
- The frequency and pattern of mutation are more significant than originally reported.
Takeaway
Some types of colorectal cancer have changes in a gene called MBD4, which helps fix DNA mistakes. This study shows that these changes happen more often than we thought.
Methodology
DNA from microdissected tumor samples was analyzed.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website