Abstract
The different clinical varieties of MEN 2 (MEN 2A, MEN 2B, FMTC—see chapter 1) are associated with distinct types of mutation in the ret proto-oncogene. This genetic information coupled with a basic understanding of the ways in which the different types of mutation may affect the activity of the ret protein, has already provided interesting insights into the biology of receptor tyrosine kinases. A more detailed elucidation of the genotype: phenotype correlations in terms of different signaling pathways in different cell types provides a challenge for the future.
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Ponder, B.A.J., Pierotti, M.A. (1996). Mutations in Ret in MEN 2. In: Genetic Mechanisms in Multiple Endocrine Neoplasia Type 2. Medical Intelligence Unit. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-21948-5_2
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DOI: https://doi.org/10.1007/978-3-662-21948-5_2
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