Skip to content

Cancer Health Center

Font Size

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]
    1|2|3|4|5|6|7|8|9|10|11|12|13|14|15|16|17|18|19|20|21|22|23

    Today on WebMD

    Colorectal cancer cells
    A common one in both men and women.
    Lung cancer xray
    See it in pictures, plus read the facts.
     
    sauteed cherry tomatoes
    Fight cancer one plate at a time.
    Ovarian cancer illustration
    Do you know the symptoms?
     
    Jennifer Goodman Linn self-portrait
    Blog
    what is your cancer risk
    HEALTH CHECK
     
    colorectal cancer treatment advances
    Video
    breast cancer overview slideshow
    SLIDESHOW
     
    prostate cancer overview
    SLIDESHOW
    lung cancer overview slideshow
    SLIDESHOW
     
    ovarian cancer overview slideshow
    SLIDESHOW
    Actor Michael Douglas
    Article