Glypican 3 Mutations in Wilms' Tumour
Author Information
Author(s): White G R M, Kelsey A M, Varley J M, Birch J M
Primary Institution: Cancer Research UK Cancer Genetics Group, Paterson Institute for Cancer Research
Hypothesis
Are somatic mutations in the GPC3 gene present in sporadic Wilms' tumour cases?
Conclusion
Somatic mutations in the GPC3 gene were found in 2 out of 41 Wilms' tumour cases, suggesting a link between GPC3 and Wilms' tumour development.
Supporting Evidence
- Two non-conservative single base changes were present in tumour tissue only.
- GPC3 is expressed in Wilms' tumour tissue but not in the corresponding normal kidney.
- The mutation frequency detected may be an underestimate due to methodological limitations.
Takeaway
The study looked at kids with a type of kidney cancer and found some changes in a gene that might help explain why they get sick.
Methodology
Tumour and normal tissue from 41 male cases of Wilms' tumour were screened for GPC3 gene mutations.
Limitations
The study may underestimate mutation frequency as it did not analyze the promoter region or large deletions.
Participant Demographics
41 male cases of Wilms' tumour.
Digital Object Identifier (DOI)
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