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RET Mutation and Function in HSCR, MEN2, and Other Cancers 

RET Mutation and Function in HSCR, MEN2, and Other Cancers
Chapter:
RET Mutation and Function in HSCR, MEN2, and Other Cancers
Author(s):

Sumantra Chatterjee

, Zachary E. Stine

, Andrew S. Mccallion

, and Aravinda Chakravarti

DOI:
10.1093/med/9780199934522.003.0069
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date: 27 February 2021

RET signaling plays an important role in cell migration, proliferation and differentiation during embryonic development. Mutations in the RET gene play a major role in two heritable pathologies affecting neural crest (NC)-derived tissues: activating mutations lead to multiple endocrine neoplasia type 2 (MEN2; OMIM 171400 and 162300), a group of autosomal dominant disorders leading to tumors of the endocrine system; loss-of-function mutations lead to Hirschsprung disease or congenital aganglionic megacolon (HSCR; OMIM 142623), a multifactorial developmental defect leading to the failure of innervation of the colon in neonates. Numerous other studies have shown the critical role of RET in other types of cancer, including lung adenocarcinoma and pancreatic cancer, where RET gene fusions play an important role in the initiation and progression of the disease. This chapter surveys what we know about the role of RET in these diseases, and what further lessons need to be learnt.

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