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Table 5 Somatic mutations found in ATCs

From: Thyroid cancers of follicular origin in a genomic light: in-depth overview of common and unique molecular marker candidates

Gene Localization Gene function Mutation Defect in cancer Physiological effect Literature
Chromosomal Abberation
KAZN-CIORF196 1p36.21, 1p36.21 N/A Gene fusion potential role in progression and development of tumors   Le Pennec et al., 2015
Gene
ARID1A, ARID1B, ARD2, ARID5B, SMARCB1, PBRM1, ATRX 1p36.11, 6q25.3, N/A, N/A, 22q11.23, 3p21.1, Xq21.1 components of the SWI/SNF complex, responsible for the chromatin remodeling N/A mutation in one of the complex components leads to dysfunction of the whole complex N/A Landa et al., 2016, Latteyer et al., 2016
ALK 2p23.1 anaplastic lymphoma kinase D1203H hallmark of anaplastic tumors N/A Bonhomme et al., 2017, Latteyer et al., 2016
ATM 11q22.3 cell-cycle checkpoint, response to DNA damage E2039K higher mutation burden, consistent with the lack of checkpoint function N/A Landa et al.,2016, Kunstman et al.,2015
BRAF rs113488022 7q34 serine/threonine kinase, response to cell growth factors V600E constitutive activation of MAPK pathway N/A Santarpia et al., 2008, Guerra et al., 2013, Kasaian et al., 2015, Landa et al., 2016, Latteyer et al., 2016
DAXX 6p21.32 transcription repressor binding the sumoylated transcription factors S641X potential driver mutation correlates with non-thyroidal malignancies Kunstman et al., 2015
EIF1AX Xp22.12 translation initiation factor, transfer of met-trnaf Splice site 1 bp upstream of ex6 (C > G), G9R (C > G), P2R(G > C) potential driver mutation N/A Kunstman et al., 2015, Landa et al., 2016
ERBB2 17q12 downstream enhancer of kinase-mediated signaling pathways D387N potential driver mutation N/A Kunstman et al., 2015
    D873N, A763T   N/A Bonhomme et al., 2017
HECTD1 rs769574276 14q12 ubiquitin protein ligase L547 V impairment of ubiquitynylated proteins degradation N/A Kunstman et al., 2015
KMT2A, KMT2C, KMT2D (MLL2), SETD2 11q23.3, 7q36.1, 12q13.12, 3p21.31 histone methyltransferases, epigenetic modifiers N/A, KMT2D: Q1892Q (rs753626919), R5389W impairment of epigenetic mechanisms, potential driver mutation N/A, KMT2D: correlates with non-thyroidal malignancies Landa et al., 2016, Kunstman et al., 2015
MET 7q31.2 tyrosine-protein kinase met I166T proto-oncogene N/A Bonhomme et al., 2017
mTOR 1p36.22 response element = to stress, possessing kinase activity R164Q (rs573705289), M2327I potential driver mutation correlates with non-thyroidal malignancies Kunstman et al., 2015
NF1 17q11.2 neurofibromatosis related gene P2696L (rs778799019), R2496X (rs752162999) potential driver mutation correlates with non-thyroidal malignancies Kunstman et al., 2015, Landa et al., 2016, Latteyer et al., 2016
NOTCH1–4 (NOTCH2 in Kunstman) 1p12 transmembrane receptors NOTCH2: S361F (rs587735797), R1393H potential driver mutation correlates with non-thyroidal malignancies Kunstman et al., 2015, Landa et al., 2016
PIK3CA 3q26.32 PI3K/AKT/mTOR pathway effector E542K (rs121913273), E545K (rs104886003) mutation of helical domain N/A Landa et al., 2016, Kunstman et al., 2015, Hou et al., 2007
PTEN 10q23.31 PI3K/AKT/mTOR pathway effector N/A truncated protein N/A Landa et al., 2016, Hou et al., 2007
RAS 11p15.5, 1p13.2, 12p12.1 signal transduction N/A preferential activation of PI3K-AKT pathway N/A Santarpia et al., 2008, Guerra et al., 2013, Landa et al., 2016, Latteyer et al., 2016, Hou et al., 2007
TERT promoter 5p15.33 telomerase reverse transcriptase C228T (rs35809415), C250T (rs1020948523) gain of immortality shorter survival Bae et al., 2016, Landa et al., 2016
TMPRSS4 11q23.3 serine protease N/A promotes proliferation positive correlation with tumor grade Guan et al., 2015
TP53 17p13.1 tumor suppressor protein Y163C (rs148924904) gain of immortality N/A Kasaian et al., 2015, Landa et al., 2016, Bonhomme et al., 2017
USH2A 1q41 uscherin, extracellular matrix binding protein interacting with collagen and fibronectin I2189V (rs542406401), D798V (rs148431156), E571K(C > T), L1727F(G > A) missense mutations N/A Kunstman et al., 2015
CREBBP 16p13.3 histone acetyltransferase N/A epigenetic modifier N/A Landa et al., 2016
EP300, BCOR, BCL6 22q13.2, Xp11.4, 3q27.3 epigenetic modifiers N/A abnormal protein modifications N/A Landa et al., 2016
CTNNB1 3p22.1 cytoskeletal anchor, adhesive junctions Q108H unknown N/A Kunstman et al., 2015, Landa et al., 2016
MSH2 2p21 DNA mismatch repair N/A gain of mutation phenotype N/A Landa et al., 2016, Kunstman et al., 2015
MSH5 6p21.33 A199V (C > T) N/A
MSH6 2p16.3 D736H (G > C) N/A
MLH1 3p22.2 I19M (C > G), I68M (rs780141938), Q60X (C > T) N/A
MLH3 14q24.3 L264 V (G > C) N/A