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RET oncogene
1CRC Human Cancer Genetics Group, University of Cambridge, UK.
Current Opinion in Genetics & Development
|February 1, 1996
Abstract:
RET mutations have been identified as the underlying cause of two congenital diseases that predominately affect tissues of neural crest origin: the MEN 2 cancer syndromes and a proportion of cases of dominantly inherited Hirschsprung disease, a disorder of gut development. This review summarizes the disease-causing mutations and our present understanding of their possible effects on RET protein function.
Insights
RET mutations cause MEN 2 cancer syndromes and Hirschsprung disease, affecting neural crest tissues. This review details these RET mutations and their impact on RET protein function.
Area of Science:
- Genetics
- Developmental Biology
- Oncology
Background:
- The RET proto-oncogene plays a crucial role in the development of neural crest-derived tissues.
- Mutations in RET are implicated in specific congenital disorders affecting these tissues.
Purpose of the Study:
- To review disease-causing mutations in the RET gene.
- To summarize the current understanding of how these mutations affect RET protein function.
Main Methods:
- Literature review of studies on RET mutations and associated diseases.
- Analysis of reported RET protein functional alterations.
Main Results:
- Identified RET mutations are the primary cause of Multiple Endocrine Neoplasia type 2 (MEN 2) syndromes.
- RET mutations also contribute to a subset of Hirschsprung disease cases, a congenital gut disorder.
- Specific mutations lead to altered RET protein activity, impacting cellular signaling.
Conclusions:
- RET mutations are key genetic drivers for MEN 2 and Hirschsprung disease.
- Understanding these mutations' effects on RET protein function is crucial for disease insights.