A dominant negative mutation of transforming growth factor- β receptor type II gene in microsatellite stable oesophageal carcinoma
2000
Mutation in TGF-β Receptor Linked to Oesophageal Cancer
Sample size: 32
publication
Evidence: moderate
Author Information
Author(s): Tanaka Shinji, Mori Masaki, Mafune Ken–ichi, Ohno Shinji, Sugimachi Keizo
Primary Institution: Department of Surgery II, Faculty of Medicine, Kyushu University
Hypothesis
The study investigates the presence of mutations in the TGF-β receptor type II gene in oesophageal carcinoma tissues.
Conclusion
A specific mutation in the TGF-β RII gene was found to inhibit TGF-β signaling in oesophageal carcinoma cells.
Supporting Evidence
- Six cases with microsatellite instability were previously reported in 32 oesophageal carcinomas.
- Only one tissue sample showed a mutation in the TGF-β RII gene.
- The identified mutation was a mis-sense mutation at codon 526.
Takeaway
Scientists looked at cancer samples to see if a certain gene was broken. They found one broken gene that stops the cancer from getting signals that help it grow.
Methodology
The study analyzed genetic mutations in TGF-β RII, Smad2, and Smad4 in oesophageal carcinoma tissues and established 16 cell lines.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website