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Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®)

  • Updated: 02/14/2014

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

Mutation ATA Risk Level Medullary Thyroid Cancer Primary Hyperparathyroidism Pheochromocytoma References 
531/9 base pair duplicationAMA[135]
532 duplicationcAUnknown[136]
633/9 base pair duplicationBMAMI[160]
634/12 base pair duplicationBMAMI[165]
635/insertion ELCR;T636PAMA[145]

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.


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