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Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Genetics - Health Professional Information [NCI] - Multiple Endocrine Neoplasia Type 2

Table 4. Genotype-Phenotype Correlations and American Thyroid Association (ATA) Risk Levelsa,b

MutationATA Risk LevelMedullary Thyroid CancerPrimary HyperparathyroidismPheochromocytomaReferences
MA = majority (>50%); MI = minority (10%–50%); R = rare (<10%).
a Refer toTable 5for more information about the ATA risk levels.
b Adapted from Kloos et al.[25]
c Associated with multiple endocrine neoplasia type 2 mutations.
d Associated with mutations based on limited families/case reports and may represent variants of unknown significance.
R321GcAMA  [133]
A510V Unknown  [134]
E511Kc Unknown  [134]
531/9 base pair duplicationAMA  [135]
532 duplicationcAUnknown  [136]
C515ScAMA  [137]
C531Rc MA  [134]
G533CAMA R[138,139,140,141,142]
R600QcAMI  [143]
K603EcAMI  [144]
Y606CcAUnknown  [145,146]
C609F/R/G/S/YBMAMIR/MI[34,62,121,127,147,148,149,150,151]
C611R/G/F/S/W/YBMAMIR/MI[62,121,127]
C618R/G/F/S/YBMAMIMI[62,121,127,152,153,154,155]
C620R/G/F/S/W/YBMAMIMI[62,121,127,148,154]
C630R/F/S/YBMARR[115,156]
D631YBMIRMA[157,158,159]
633/9 base pair duplicationBMAMI [160]
C634RCMAMIMA[62,121,161,162]
C634G/F/S/W/YCMAMIMA[62,121,154,161,162,163]
C634Y/Y791F MARMA[164]
634/12 base pair duplicationBMAMI [165]
635/insertion ELCR;T636PAMA  [145]
S649LAMIR [34,166,167,168]
K666E/NcAMI MI[134,145,169]
S686Nc MI  [154]
E768DAMARR[62,115,157,170]
R770Qc Unknown  [171]
N777ScAMI  [172]
L790FAMARR/MI[157,173,174]
Y791FAMAMIMI[157,173,175]
V804LAMAMIR[62,173,176]
V804MAMARR[62,173,176,177,178]
V804M+V778IcBMA  [179]
V804M+E805KdDMA MA[113]
V804M+Y806KdDMA MA[114,115,116]
V804M+S904Cc,dDMAMI [117]
G819KcAUnknown  [34]
R833CcAUnknown  [180]
R844QcAUnknown  [34,157]
L881Vc Unknown  [171]
A883FdDMA MA[110,111,181]
R886WcAMA  [182]
S891AAMAMIR[34,183,184,185,186]
R912PAMIMI [34,187]
M918TdDMA MA[62,154,188]

In addition to the mutations categorized in Table 4, a number of rare or novel RET mutations have been described. Some of these represent mutations that lead to an FMTC or MEN2 phenotype. Others may represent low penetrance alleles or modifying alleles that confer only a modest risk of developing MTC. Still others may be benign polymorphisms of no clinical significance. A variety of approaches, including segregation analyses, in silico analyses, association studies, and functional assays, can be employed to determine the functional and clinical significance of a given genetic variant. A publicly available RET mutation online database repository was recently developed and includes a complete list of mutations and their associated pathogenicity, phenotype, and other associated clinical information and literature references.[189]

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Last Updated: February 25, 2014
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