Different mutations of the RET gene cause different human tumoral diseases

Massimo Santoro, Rosa Marina Melillo, Francesca Carlomagno, Roberta Visconti, Gabriella De Vita, Giuliana Salvatore, Alfredo Fusco, Giancarlo Vecchio

Research output: Contribution to journalArticlepeer-review

Abstract

The RET gene encodes a tyrosine kinase receptor for neurotrophic molecules. RET is a conceptually valuable example of how different mutations of a single gene may cause different diseases. Gene rearrangements activate the oncogenic potential of RET in human thyroid papillary carcinomas. On the other side, different point mutations activate RET in familial multiple endocrine neoplasia syndromes. Finally, inactivating mutations of RET can be present in Hirschsprung's disease patients. The detailed knowledge of the specific RET mutations responsible for human tumors provides relevant tools for the clinical management of these diseases. Moreover, the recent discovery of the growth factors which in vivo stimulate its signaling may shed new light on the role played by RET in the development and differentiation of the central and peripheral nervous system.

Original languageEnglish
Pages (from-to)397-402
Number of pages6
JournalBiochimie
Volume81
Issue number4
DOIs
Publication statusPublished - Apr 1999

Keywords

  • Carcinoma
  • Kinase
  • Papillary
  • Thyroid
  • Tyrosine

ASJC Scopus subject areas

  • Biochemistry

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