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The role of the ret proto-oncogene in human disease
1Department of Pathology, Nagoya University School of Medicine.
Abstract:
The ret proto-oncogene encodes a receptor tyrosine kinase with a cadherin-like motif in the extracellular domain. Recently, it turned out that ret is the causative gene for the development of multiple endocrine neoplasia (MEN) type 2A and type 2B and Hirschsprung's disease. MEN 2A and MEN 2B mutations represent activating changes of ret whereas Hirschsprung mutations inactivate ret. In addition, another activating change of ret was found in papillary thyroid carcinoma, particularly in those cancers which developed in children from areas contaminated by the Chernobyl accident. This review summarizes the role of ret in the development of human disease.
Insights
The ret proto-oncogene is linked to multiple endocrine neoplasia (MEN) types 2A and 2B, Hirschsprung
Area of Science:
- Oncology
- Genetics
- Endocrinology
Background:
- The ret proto-oncogene encodes a receptor tyrosine kinase.
- This gene possesses a cadherin-like motif in its extracellular domain.
- Recent findings implicate ret in several human diseases.
Purpose of the Study:
- To review the role of the ret proto-oncogene in human disease development.
- To summarize the impact of ret mutations in various medical conditions.
Main Methods:
- Literature review of studies on the ret proto-oncogene.
- Analysis of genetic mutations associated with ret.
- Correlation of ret gene function with disease phenotypes.
Main Results:
- Activating ret mutations are associated with Multiple Endocrine Neoplasia (MEN) types 2A and 2B.
- Inactivating ret mutations are linked to Hirschsprung's disease.
- Activating ret mutations are also found in papillary thyroid carcinoma, especially in children exposed to Chernobyl radiation.
Conclusions:
- The ret proto-oncogene plays a critical role in the pathogenesis of MEN, Hirschsprung's disease, and certain thyroid cancers.
- Understanding ret gene function is crucial for diagnosing and potentially treating these conditions.