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Molecular biology of the MEN2 gene
Author(s) -
Massimo Santoro,
Rosa Marina Melillo,
Francesca Carlomagno,
Roberta Visconti,
Gabriella De Vita,
Giuliana Salvatore,
Gelsy Arianna Lupoli,
Alfredo Fusco,
Giancarlo Vecchio
Publication year - 1998
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1046/j.1365-2796.1998.00330.x
Subject(s) - multiple endocrine neoplasia type 2 , proto oncogene proteins c ret , glial cell line derived neurotrophic factor , cancer research , point mutation , gene , genetics , mutation , biology , receptor tyrosine kinase , signal transduction , neurotrophic factors , germline mutation , receptor
Santoro M, Melillo RM, Carlomagno F, Visconti R, De Vita G, Salvatore G, Lupoli G, Fusco A, Vecchio G (Università di Napoli, Naples, Italy). Molecular biology of the MEN2 gene (Minisymposium: MEN & VHL). J Intern Med 1998; 243 : 505–8. Cancer is a genetic disease caused by ‘gain of function’ mutations of oncogenes and ‘loss of function’ mutations of tumour suppressors and of genes involved in DNA repair mechanisms. The RET gene encodes a tyrosine kinase receptor for molecules belonging to the glial cell line‐derived neurotrophic factor (GDNF) family. RET is a paradigmatic example of how different mutations of a single gene can lead to different neoplastic phenotypes. Indeed, gene rearrangements, often caused by chromosomal inversions, activate the oncogenic potential of RET in a fraction of human thyroid papillary carcinomas. On the other hand, different point mutations activate RET in familial multiple endocrine neoplasia syndromes familial medullary thyroid carcinoma (FMTC), MEN‐2A and MEN‐2B. Little information is so far available on the biochemical mechanisms by which the potent transforming and mitogenic signals of RET are delivered to the nucleus. However, recent data indicate coupling to the Shc‐Ras‐MAPK pathway as a necessary step in RET signal transduction.