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Article

C620R mutation of the murine ret proto-oncogene: loss of function effect in homozygotes and possible gain of function effect in heterozygotes.

International journal of cancer - 15 Jul 2007

Yin Luo, Puliti Aldamaria, Bonora Elena, Evangelisti Cecilia, Conti Valerio, Tong Wei-Min, Medard Jean-Jacques, Lavoué Marie-France, Forey Nathalie, Wang Lily C, Manié Serge, Morel Gérard, Raccurt Mireille, Wang Zhao-Qi, Romeo Giovanni

Abstract excerpt

Germline RET mutations are responsible for different inherited disorders: Hirschsprung disease (congenital aganglionic megacolon), caused by loss of function mutations, familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2, caused by gain of function mutations. Intriguingly, some RET mutations, including C620R, are associated with both types of diseases. To investigate the dual role of such...

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Identifiers

PMID: 17372903
DOI: 10.1002/ijc.22378

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RET

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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