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Related to MEN2A: MEN2B


Farlex Partner Medical Dictionary © Farlex 2012


A gene on chromosome 10q11.2 that encodes a receptor for tyrosine-protein kinase involved in various cellular processes, including cell proliferation and migration, neuronal navigation and cell differentiation, upon binding with glial-cell-derived neurotrophic factor family ligands. RET regulates cell death/survival, balance and positional information. It orchestrates molecular cascades during intestinal, gut neuroendocrine, gut MALT and renal organogenesis, and it modulates cell adhesion by cleaving caspase in sympathetic neurons and mediates cell migration in an integrin (e.g., ITGB1 and ITGB3)-dependent manner. RET triggers apoptosis by intracellular caspase cleavage; it promotes survival and downregulates growth hormone production, but triggers apoptosis in absence of GDNF.

Molecular pathology
RET mutations are associated with  neuroendocrine cancers, which are characterised by defects in integrin-regulated cell migration.
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References in periodicals archive ?
of Gender/ethnic Exon/Intron patients group Diagnosis 4 1 WM MEN2B 10 2 CM/CF HSCR-MEN2 11 8 BF/BF/BF MEN2A 11 2 WF MEN2A 11 2 CF/CF MEN2A 12 2 CF/CF MEN2A 13 WF FMTC 18 WF FMTC 19 CF FMTC 19 BF MEN2A 20 CM MTC carrier * Related to cysteine radicals on RET gene.
Seven sporadic and one MEN2A patient (6%) died due to distant metastases.
It is well-known that early PTx reduces cancer mortality to lower than 5% in MEN2A patients (27).
MEN2A is frequently caused by the mutations in codons 634, 620, 618, 611, 609.
Sanchez et al (34) reported that the most frequent RET mutation in MEN2A Spanish families was C634Y, occurring in 73% (22/30) of cases and this finding was attributed to founder effect.
Do the recent American Thyroid Association (ATA) Guidelines accurately guide the timing of prophylactic thyroidectomy in MEN2A? Surgery 2010;148:1302-1309.
RET proto-oncogene mutations are restricted to codons 634 and 918 in mainland Chinese families with MEN2A and MEN2B.