[Diagnosis and management of asymptomatic MEN 2 gene carriers]

Nihon Rinsho. 2004 May;62(5):914-9.
[Article in Japanese]

Abstract

RET genetic testing affords valid clinical strategies in the diagnosis and management of MEN 2. For at risk family members, the test provides accurate diagnosis of gene carriers and best chance of cure of medullary thyroid carcinoma by prophylactic total thyroidectomy. The test results, however, may have medical, psychological, ethical, and social effects on the individuals as well as their families, it is important for an individual to know the potential consequences and to give an informed consent before having the genetic test. Health care providers should make efforts to be aware of these potential effects and to support a tested individual throughout the entire screening process.

Publication types

  • Review

MeSH terms

  • Genetic Carrier Screening*
  • Heterozygote*
  • Humans
  • Informed Consent
  • Multiple Endocrine Neoplasia Type 2a / diagnosis*
  • Multiple Endocrine Neoplasia Type 2a / genetics*
  • Multiple Endocrine Neoplasia Type 2a / prevention & control
  • Multiple Endocrine Neoplasia Type 2a / therapy
  • Mutation
  • Oncogene Proteins / genetics
  • Practice Guidelines as Topic
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases / genetics
  • Thyroidectomy

Substances

  • Oncogene Proteins
  • Proto-Oncogene Proteins c-ret
  • RET protein, human
  • Receptor Protein-Tyrosine Kinases