Clinical Relevance
Activating point mutations in RET can give rise to the hereditary cancer syndrome known as multiple endocrine neoplasia type 2 (MEN 2). There are three subtypes based on clinical presentation: MEN 2A, MEN 2B, and familial medullary thyroid carcinoma (FMTC). There is a high degree of correlation between the position of the point mutation and the phenotype of the disease.
Chromosomal rearrangements that generate a fusion gene resulting in the juxtaposition of the C-terminal region of the RET protein with an N-terminal portion of another protein, can also lead to constitutive activation of the RET kinase. These types of mutations are associated with papillary thyroid carcinoma (PTC), and the fusion oncoproteins generated are termed RET/PTC proteins.
Read more about this topic: RET Proto-oncogene
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