help button home button Endocrine Society JCEM
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
This Article
Right arrow Full Text (PDF)
Right arrow Submit a related Letter to the Editor
Right arrow Purchase Article
Right arrow View Shopping Cart
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow Request Copyright Permission
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Quadro, L.
Right arrow Articles by Mannelli, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Quadro, L.
Right arrow Articles by Mannelli, M.

Journal of Clinical Endocrinology & Metabolism, Vol 79, 590-594, Copyright © 1994 by Endocrine Society

ARTICLES

Frequent RET protooncogene mutations in multiple endocrine neoplasia type 2A

L Quadro, L Panariello, D Salvatore, F Carlomagno, M Del Prete, V Nunziata, V Colantuoni, G Di Giovanni, ML Brandi and M Mannelli
Dipartimento di Biochimica e Biotecnologie Mediche, CEINGE, Centro di Ingegneria Genetica, Naples, Italy.

The occurrence of mutations in the RET protooncogene has been investigated in 12 multiple endocrine neoplasia type 2A families and 18 cases of sporadic thyroid medullary carcinomas and pheochromocytomas. Ten of 12 families showed single base substitutions in the RET protooncogene exons 10 and 11, coding for the extracellular domain of the protein. Tumor tissues from 2 multiple endocrine neoplasia type 2A patients were analyzed at the DNA and ribonucleic acid levels and revealed the same heterozygous mutations found in the peripheral blood lymphocytes. This demonstrates that both the normal and mutant alleles are expressed. No mutations in these exons were detected in the 18 cases of sporadic tumors investigated. These data provided further evidence that the mutated RET protooncogene acts in a dominant fashion and is responsible for the pathogenesis of this syndrome.


This article has been cited by other articles:


Home page
 J. Clin. Endocrinol. Metab.Home page
M. K. Punales, H. Graf, J. L. Gross, and A. L. Maia
RET Codon 634 Mutations in Multiple Endocrine Neoplasia Type 2: Variable Clinical Features and Clinical Outcome
J. Clin. Endocrinol. Metab., June 1, 2003; 88(6): 2644 - 2649.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
L. Quadro, O. Fattoruso, M. P. Cosma, U. Verga, A. Porcellini, A. Libroia, and V. Colantuoni
Loss of Heterozygosity at the RET Protooncogene Locus in a Case of Multiple Endocrine Neoplasia Type 2A
J. Clin. Endocrinol. Metab., January 1, 2001; 86(1): 239 - 244.
[Abstract] [Full Text]

Home page
 J. Clin. Endocrinol. Metab.Home page
D. Salvatore, M. V. Barone, G. Salvatore, R. M. Melillo, G. Chiappetta, A. Mineo, G. Fenzi, G. Vecchio, A. Fusco, and M. Santoro
Tyrosines 1015 and 1062 Are in VivoAutophosphorylation Sites in Ret and Ret-Derived Oncoproteins
J. Clin. Endocrinol. Metab., October 1, 2000; 85(10): 3898 - 3907.
[Abstract] [Full Text]

Home page
 J. Clin. Endocrinol. Metab.Home page
A. Tessitore, A. A. Sinisi, D. Pasquali, M. Cardone, D. Vitale, A. Bellastella, and V. Colantuoni
A Novel Case of Multiple Endocrine Neoplasia Type 2A Associated with Two de Novo Mutations of the RETProtooncogene
J. Clin. Endocrinol. Metab., October 1, 1999; 84(10): 3522 - 3527.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Endocrinology Endocrine Reviews J. Clin. End. & Metab.
Molecular Endocrinology Recent Prog. Horm. Res. All Endocrine Journals
Copyright © 1994 by The Endocrine Society