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RET oncogene

Y F Mak1, B A Ponder

  • 1CRC Human Cancer Genetics Group, University of Cambridge, UK.

Current Opinion in Genetics & Development
|February 1, 1996
PubMed
Summary

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.

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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.

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