Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer
2000
Genetic Risk Factor for Colorectal Cancer
publication
Author Information
Author(s): Palicio M, Blanco I, Tórtola S, González I, Marcuello E, Brunet J, Lluis F, González-Aguilera J J, Peinado M A, Capella G
Primary Institution: Laboratori d'Investigació Gastrointestinal, Institut de Recerca, Hospital de Sant Pau
Hypothesis
Is the intron splice acceptor site polymorphism in the hMSH2 gene a genetic risk factor for colorectal cancer?
Conclusion
The hMSH2 gene polymorphism is a genetic risk factor for colorectal cancer in the Spanish population, but it does not seem to affect the function of the hMSH2 gene.
Supporting Evidence
- A polymorphism in the hMSH2 gene has been linked to a higher risk of colorectal cancer.
- The study indicates that this genetic change is a risk factor specifically in the Spanish population.
- Despite the increased risk, the polymorphism does not seem to impair the function of the hMSH2 gene.
Takeaway
Some people have a change in a gene that makes them more likely to get colon cancer, but this change doesn't seem to stop the gene from working.
Participant Demographics
Spanish population
Digital Object Identifier (DOI)
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