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Absence of PPP2R1A mutations in Wilms tumor
E C Ruteshouser1, L K Ashworth, V Huff
1Department of Experimental Pediatrics, The University of Texas MD Anderson Cancer Center, Houston, Texas, TX 77030, USA.
Oncogene
|May 22, 2001
Summary
The PPP2R1A gene was investigated as a potential cause of familial and sporadic Wilms tumor. Researchers found no mutations in PPP2R1A, ruling it out as the FWT2 gene and a common cause of Wilms tumor.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- A gene at 19q13.4, FWT2, is linked to Wilms tumor predisposition.
- The PPP2R1A gene, encoding a protein phosphatase 2A (PP2A) isoform, is in the FWT2 region and altered in other cancers.
- PPP2R1A and PPP2R1B were considered potential tumor suppressor genes due to their roles in cell growth and similarity to WT1 expression.
Purpose of the Study:
- To determine if mutations in the PPP2R1A gene are responsible for familial Wilms tumor (FWT2).
- To investigate the role of PPP2R1A mutations in the development of sporadic Wilms tumor.
Main Methods:
- Analysis of the coding region of the PPP2R1A gene.
- Utilized DNA and RNA samples from Wilms tumor patients (four familial, 30 sporadic).
Main Results:
- No mutations were identified in the PPP2R1A gene in any of the familial or sporadic Wilms tumor samples analyzed.
- This indicates PPP2R1A is not the FWT2 gene responsible for familial Wilms tumor.
Conclusions:
- PPP2R1A is not the 19q familial Wilms tumor gene (FWT2).
- Mutations in PPP2R1A are not a common cause of sporadic Wilms tumor.