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Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®)

  • Updated: 02/08/2013

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[133]
A510VUnknown[134]
E511KcUnknown[134]
531/9 base pair duplicationAMA[135]
532 duplicationcAUnknown[136]
C515ScAMA[137]
C531RcMA[134]
G533CAMAR[138-142]
R600QcAMI[143]
K603EcAMI[144]
Y606CcAUnknown[145,146]
C609F/R/G/S/YBMAMIR/MI[34,62,121,127,147-151]
C611R/G/F/S/W/YBMAMIR/MI[62,121,127]
C618R/G/F/S/YBMAMIMI[62,121,127,152-155]
C620R/G/F/S/W/YBMAMIMI[62,121,127,148,154]
C630R/F/S/YBMARR[115,156]
D631YBMIRMA[157-159]
633/9 base pair duplicationBMAMI[160]
C634RCMAMIMA[62,121,161,162]
C634G/F/S/W/YCMAMIMA[62,121,154,161-163]
C634Y/Y791FMARMA[164]
634/12 base pair duplicationBMAMI[165]
635/insertion ELCR;T636PAMA[145]
S649LAMIR[34,166-168]
K666E/NcAMIMI[134,145,169]
S686NcMI[154]
E768DAMARR[62,115,157,170]
R770QcUnknown[171]
N777ScAMI[172]
L790FAMARR/MI[157,173,174]
Y791FAMAMIMI[157,173,175]
V804LAMAMIR[62,173,176]
V804MAMARR[62,173,176-178]
V804M+V778IcBMA[179]
V804M+E805KdDMAMA[113]
V804M+Y806KdDMAMA[114-116]
V804M+S904Cc,dDMAMI[117]
G819KcAUnknown[34]
R833CcAUnknown[180]
R844QcAUnknown[34,157]
L881VcUnknown[171]
A883FdDMAMA[110,111,181]
R886WcAMA[182]
S891AAMAMIR[34,183-186]
R912PAMIMI[34,187]
M918TdDMAMA[62,154,188]

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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