RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma. Baillieres Clin Endocrinol Metab 1995 Jul;9(3):609-30
Date
07/01/1995Pubmed ID
7575334DOI
10.1016/s0950-351x(95)80638-5Scopus ID
2-s2.0-0029112245 (requires institutional sign-in at Scopus site) 34 CitationsAbstract
The identification of RET proto-oncogene mutations in patients with MEN2 2 years ago was a watershed event in the management of this genetic cancer syndrome. The identification of a finite number of mutations that together causes more than 95% of hereditary and 15-25% of sporadic MTC has made it possible to develop simple and definitive tests to screen individuals at risk for this tumour syndrome. The impact of this technology is enormous. It is now possible to reassure 50% of family members at risk that they, and their children, do not have to worry about developing MTC. In the other 50% who are gene carriers, it is now possible to approach clinical management with greater certainty and plot strategies that are likely to result in a greater percentage of curative therapy. It seems likely that this technology will also have an impact on the management of sporadic MTC, although it is still too early to define a specific role for mutational analysis in these patients, except to exclude hereditary disease. The identification of specific mutations causative for MTC makes it possible to conceive future strategies for the treatment or prevention of MTC and to further extend the impact of these exciting findings.
Author List
Cote GJ, Wohllk N, Evans D, Goepfert H, Gagel RFAuthor
Douglas B. Evans MD Professor in the Surgery department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Carcinoma, MedullaryDrosophila Proteins
Genetic Testing
Humans
Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2b
Mutation
Point Mutation
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases
Thyroid Neoplasms
