ABSTRACT
A1 C Multiple endocrine neoplasia syndromes are inherited in an autosomal dominant pattern with very high penetrance. The genetic defect in these disorders involves the RET proto-oncogene, a tyrosine kinase receptor, on chromosome 10q11.2. All clinical manifestations of the multiple endocrine neoplasia type 2 (MEN2) syndromes relate to a defect in transduction of growth and differentiation signals in several developing tissues that express RET. So far, mutation analysis in MEN2 families has identified over 50 different mutations related to the disease.
