Genetic testing for hereditary mutations in the RET gene

Newton S, Schubert C, Morona J, Fitzgerald P, Merlin T
Record ID 32015000103
Original Title: Application 1152
Authors' recomendations: Genetic testing of the RET gene benefits those with mutations, by allowing early diagnosis of MEN2, and prophylactic or early removal of the thyroid gland. The evidence suggests this may be associated with less recurrence and improved rates of survival. A negative test in patients with a medullary thyroid carcinoma allows it to be considered sporadic, and removes the requirement for familial monitoring. A negative test in family members also rules out the requirement for monitoring. RET mutation testing and subsequent targeted monitoring is considered cost-effective.
Project Status: Completed
Year Published: 2013
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Australia
MeSH Terms
  • Carcinoma, Medullary
  • DNA, Neoplasm
  • Genetic Testing
  • Thyroid Neoplasms
  • Thyroid Gland
  • Proto-Oncogene Proteins c-ret
  • Mutation
  • Prognosis
  • DNA Mutational Analysis
  • Adrenal Gland Neoplasms
  • Genetic Association Studies
  • Heredity
Organisation Name: Adelaide Health Technology Assessment
Contact Address: School of Public Health, Mail Drop 545, University of Adelaide, Adelaide SA 5005, AUSTRALIA, Tel: +61 8 8313 4617
Contact Name:
Contact Email:
Copyright: Adelaide Health Technology Assessment (AHTA)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.