Smooth-muscle myosin mutations in hereditary non-polyposis colorectal cancer syndrome
Author Information
Author(s): Vickaryous N, Polanco-Echeverry G, Morrow S, Suraweera N, Thomas H, Tomlinson I, Silver A
Primary Institution: Barts and The London School of Medicine and Dentistry, Queen Mary University of London
Hypothesis
Do mutations in the smooth-muscle myosin gene, MYH11, occur more frequently in cancers than in adenomas in patients with hereditary non-polyposis colorectal cancer (HNPCC)?
Conclusion
Mutations in MYH11 occur more frequently in cancers than adenomas and are dependent on microsatellite instability.
Supporting Evidence
- MYH11 mutations were found in 36% of MSI+ cancers compared to 5% in MSI+ adenomas.
- No frameshift mutations were found in matched normal DNA from HNPCC patients.
- MYH11 mutations were present in 50% of MSI+ endometrial cancers.
- Mutation frequency was not influenced by Dukes stage or tumor site.
Takeaway
This study found that a specific gene mutation happens more often in cancer than in benign growths in people with a certain type of inherited cancer risk.
Methodology
The study analyzed adenomas and cancers from HNPCC patients for MYH11 mutations using DNA prepared from neoplastic and normal tissue.
Limitations
The study did not assess the role of MYH11 mutations in early stages of tumor formation.
Participant Demographics
77 HNPCC individuals from 60 families were selected.
Statistical Information
P-Value
0.008
Statistical Significance
p=0.008
Digital Object Identifier (DOI)
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