Article
The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype.
Cancer research - 1 Feb 1997
Carlomagno F, Salvatore G, Cirafici A M, De Vita G, Melillo R M, de Franciscis V, Billaud M, Fusco A, Santoro M
Abstract excerpt
Distinct point mutations of RET, a tyrosine-kinase receptor encoding gene, are responsible for the inheritance of multiple endocrine neoplasia type 2 syndromes (MEN2A and MEN2B) and familial medullary thyroid carcinoma (FMTC). In particular, MEN2A is a more complex and aggressive disease than FMTC, being characterized by pheochromocytomas and parathyroid alterations, in addition to medullary thyroid carcinomas....
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