[Identification of mutation of RET proto-oncogene in Hirschsprung disease]

C R Seances Soc Biol Fil. 1994;188(5-6):499-504.
[Article in French]

Abstract

Hirschsprung's disease is a frequent congenital malformation of the hindgut. The existence of Hirschsprung's families favors the role of an autosomal dominant gene with a reduced penetrance. We have successively localized and identified the RET proto-oncogene as the gene responsible for familial Hirschsprung's disease. Interestingly, other mutations of the RET proto-oncogene have been described in inherited predisposition to endocrine cancers. This observation shows that, depending on their nature, mutations of the RET proto-oncogene could lead either to early developmental defects or to tumor predisposition.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Endocrine Gland Neoplasms / genetics
  • Female
  • Hirschsprung Disease / genetics*
  • Humans
  • Male
  • Point Mutation
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogenes / genetics*

Substances

  • Proto-Oncogene Proteins