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RET gene mutations (genotype and phenotype) of multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma.

Abstract
The rapid technical advances in molecular biology and accelerating improvements in genomic and proteomic diagnostics have led to increasingly personalized strategies for cancer therapy. Such an approach integrates the genomic, proteomic, and molecular information unique to the individual to provide an accurate genetic diagnosis, molecular risk assessment, informed family counseling, therapeutic profiling, and early preventative management that best fits the particular needs of each patient. The discovery of mutations in the RET proto-oncogene resulting in variable onset and severity of multiple endocrine neoplasia type 2 (MEN2) was the first step in developing direct genetic testing for at-risk individuals. Patients with germline RET mutations may undergo risk assessment and appropriate intervention based on specific mutations. Moreover, family members of affected individuals receive counseling based on understanding of the genetic transmission of the disease. Increasingly, clinicians are able to make therapeutic choices guided by an informative biomarker code. Improvements in detection and management of patients with MEN2 resulting from understanding of the RET proto-oncogene are evidence of the benefits of personalized cancer medicine. This review describes the discovery of the RET proto-oncogene, the association between genotype and phenotype, and the role of mutation analysis on diagnosis and treatment of MEN2.
AuthorsGeoffrey W Krampitz, Jeffrey A Norton
JournalCancer (Cancer) Vol. 120 Issue 13 Pg. 1920-31 (Jul 01 2014) ISSN: 1097-0142 [Electronic] United States
PMID24699901 (Publication Type: Journal Article, Review)
Copyright© 2014 American Cancer Society.
Chemical References
  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-ret
  • RET protein, human
Topics
  • Age Factors
  • Carcinoma, Medullary (congenital, diagnosis, genetics, prevention & control)
  • DNA Mutational Analysis
  • Evidence-Based Medicine
  • Family
  • Genetic Counseling
  • Genetic Testing
  • Genotype
  • Germ-Line Mutation
  • Humans
  • Multiple Endocrine Neoplasia Type 2a (diagnosis, drug therapy, genetics, prevention & control)
  • Mutation
  • Phenotype
  • Point Mutation
  • Precision Medicine
  • Primary Prevention (methods)
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-ret (genetics)
  • Risk Assessment
  • Thyroid Neoplasms (diagnosis, genetics, prevention & control)
  • Thyroidectomy

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