Mutation and deletion analysis of GFRα-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours
1999
Mutation and deletion analysis of GFRα-1 in brain tumours
Sample size: 36
publication
Evidence: moderate
Author Information
Author(s): Gimm O, Gössling A, Marsh D J, Dahia P L M, Mulligan L M, Deimling A von, Eng C
Primary Institution: Dana-Farber Cancer Institute and Ohio State University Comprehensive Cancer Center
Hypothesis
Are mutations in GDNF and GFRα-1 present in human brain tumours?
Conclusion
Intragenic point mutations of GDNF or GFRα-1 are not common in brain tumours, but deletions may contribute to their development.
Supporting Evidence
- No mutations were found in the coding region of GDNF.
- Six previously described GFRα-1 polymorphisms were identified.
- Fifteen of the 36 brain tumours had homozygous polymorphic variants.
- Loss of heterozygosity was found in 11 of the 15 tumours analyzed.
Takeaway
The study looked at brain tumours to see if certain genes were mutated, but they found that these mutations are rare.
Methodology
The study analyzed 36 cases of brain tumours for mutations in GDNF and GFRα-1.
Limitations
The study only examined a limited number of brain tumour cases.
Participant Demographics
Mainly advanced sporadic brain tumours.
Digital Object Identifier (DOI)
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