Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li–Fraumeni syndrome
1999
No Mutations Found in Key Genes for Li-Fraumeni Syndrome
publication
Author Information
Author(s): Burt E C, McGown G, Thorncroft M, James L A, Birch J M, Varley J M
Primary Institution: CRC Section of Molecular Genetics, Paterson Institute for Cancer Research
Hypothesis
Are the genes CDKN2 and PTEN causative gene defects in Li–Fraumeni syndrome?
Conclusion
The study found no mutations in the genes CDKN2 and PTEN in families with Li–Fraumeni syndrome.
Supporting Evidence
- The study focused on families with Li–Fraumeni syndrome.
- No mutations were detected in the tested family members.
Takeaway
The researchers looked for changes in two important genes in families with a certain cancer syndrome and didn't find any.
Methodology
The study analyzed families with Li–Fraumeni syndrome for mutations in the PTEN and CDKN2 genes.
Digital Object Identifier (DOI)
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