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RET mutations in human disease

B Pasini1, I Ceccherini, G Romeo

  • 1Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini Largo G., Genova, Quarto, Italy.

Trends in Genetics : TIG
|April 1, 1996
PubMed
Summary
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Mutations in the RET proto-oncogene are linked to thyroid cancer and inherited syndromes like multiple endocrine neoplasia. RET gene alterations also cause Hirschsprung disease, a congenital disorder of the enteric nervous system.

Area of Science:

  • Oncology
  • Genetics
  • Developmental Biology

Background:

  • The RET proto-oncogene, a receptor tyrosine kinase, plays a crucial role in human diseases.
  • RET gene alterations are implicated in various conditions, including thyroid cancer and congenital disorders.

Purpose of the Study:

  • To explore the role of RET proto-oncogene mutations in human diseases.
  • To understand the link between RET gene alterations and specific pathologies.

Main Methods:

  • Review of existing literature on RET proto-oncogene mutations.
  • Analysis of the association between RET gene alterations and papillary thyroid carcinoma (PTC).
  • Investigation of germline RET mutations in multiple endocrine neoplasia types (MEN2A, MEN2B, FMTC).
  • Examination of RET mutations in Hirschsprung disease (HSCR).

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Main Results:

  • Somatic RET rearrangements are involved in a proportion of papillary thyroid carcinomas.
  • Germline RET mutations are associated with multiple endocrine neoplasia types 2A, 2B, and familial medullary thyroid carcinoma (FMTC).
  • RET mutations or deletions cause autosomal dominant Hirschsprung disease, a congenital enteric nervous system disorder.

Conclusions:

  • The RET proto-oncogene is a key factor in the pathogenesis of several human diseases.
  • Understanding RET gene alterations provides insights into thyroid cancer, inherited cancer syndromes, and congenital enteric nervous system disorders.