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RET in human development and oncogenesis

P Edery1, C Eng, A Munnich

  • 1Service de Génétique Médicale et Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Hôpital Necker-Enfants Malades, Paris, France.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology
|May 1, 1997
PubMed
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Mutations in the RET proto-oncogene cause Hirschsprung disease (intestinal defect) or Multiple Endocrine Neoplasia type 2 (cancer syndrome). These RET gene mutations result in either a loss or gain of function, leading to distinct hereditary disorders.

Area of Science:

  • Genetics
  • Developmental Biology
  • Oncology

Background:

  • Hirschsprung disease (HSCR) and Multiple Endocrine Neoplasia type 2 (MEN2) are hereditary disorders linked to neural crest cell development.
  • HSCR affects the enteric nervous system, causing intestinal obstruction.
  • MEN2 syndromes increase susceptibility to cancers of neural crest derivatives.

Purpose of the Study:

  • To investigate the role of the RET proto-oncogene in HSCR and MEN2.
  • To understand how different RET mutations lead to distinct clinical phenotypes.

Main Methods:

  • Analysis of heterozygous mutations in the RET proto-oncogene in patients with HSCR and MEN2.
  • In vitro expression studies of mutant RET tyrosine kinase activity.

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Main Results:

  • Both HSCR and MEN2 are associated with heterozygous RET mutations.
  • HSCR mutations cause a loss of function in the RET tyrosine kinase.
  • MEN2 mutations lead to constitutive activation (gain of function) of the RET tyrosine kinase.

Conclusions:

  • The RET proto-oncogene plays a critical role in both HSCR and MEN2 pathogenesis.
  • Opposing functional consequences of RET mutations (loss-of-function vs. gain-of-function) explain the distinct disease phenotypes.