Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?
2011
How Missense Mutations in APC Lead to Cancer
publication
Evidence: moderate
Author Information
Author(s): Minde David P, Anvarian Zeinab, Rüdiger Stefan GD, Maurice Madelon M
Primary Institution: Utrecht University
Hypothesis
How do missense mutations in the tumor suppressor protein APC lead to cancer?
Conclusion
Missense mutations in the APC protein can disrupt its tumor suppressor function, leading to cancer development.
Supporting Evidence
- APC mutations are linked to familial adenomatous polyposis, a condition that leads to colorectal cancer.
- Missense mutations in APC are found in around 80% of sporadic colonic tumors.
- APC's large disordered region is crucial for its function in regulating β-catenin levels.
Takeaway
APC is a protein that helps prevent cancer, and when it has tiny changes called mutations, it can stop working properly and lead to cancer.
Digital Object Identifier (DOI)
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