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Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®)

  • Updated: 07/17/2014

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

Mutation ATA Risk Level Medullary Thyroid Cancer Primary Hyperparathyroidism Pheochromocytoma References 
R321GcAMA[134]
A510VUnknown[135]
E511KcUnknown[135]
531/9 base pair duplicationAMA[136]
532 duplicationcAUnknown[137]
C515ScAMA[138]
C531RcMA[135]
G533CAMAR[139-143]
R600QcAMI[144]
K603EcAMI[145]
Y606CcAUnknown[146,147]
C609F/R/G/S/YBMAMIR/MI[34,63,122,128,148-152]
C611R/G/F/S/W/YBMAMIR/MI[63,122,128]
C618R/G/F/S/YBMAMIMI[63,122,128,153-156]
C620R/G/F/S/W/YBMAMIMI[63,122,128,149,155]
C630R/F/S/YBMARR[116,157]
D631YBMIRMA[158-160]
633/9 base pair duplicationBMAMI[161]
C634RCMAMIMA[63,122,162,163]
C634G/F/S/W/YCMAMIMA[63,122,155,162-164]
C634Y/Y791FMARMA[165]
634/12 base pair duplicationBMAMI[166]
635/insertion ELCR;T636PAMA[146]
S649LAMIR[34,167-169]
K666E/NcAMIMI[135,146,170]
S686NcMI[155]
E768DAMARR[63,116,158,171]
R770QcUnknown[172]
N777ScAMI[173]
L790FAMARR/MI[158,174,175]
Y791FAMAMIMI[158,174,176]
V804LAMAMIR[63,174,177]
V804MAMARR[63,174,177-179]
V804M+V778IcBMA[180]
V804M+E805KdDMAMA[114]
V804M+Y806KdDMAMA[115-117]
V804M+S904Cc,dDMAMI[118]
G819KcAUnknown[34]
R833CcAUnknown[181]
R844QcAUnknown[34,158]
L881VcUnknown[172]
A883FdDMAMA[111,112,182]
R886WcAMA[183]
S891AAMAMIR[34,184-187]
R912PAMIMI[34,188]
M918TdDMAMA[63,155,189]

MA = majority (>50%); MI = minority (10%–50%); R = rare (<10%).
aRefer to Table 5 for more information about the ATA risk levels.
bAdapted from Kloos et al.[25]
cAssociated with multiple endocrine neoplasia type 2 mutations.
dAssociated with mutations based on limited families/case reports and may represent variants of unknown significance.

References

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