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Table 4 Somatic mutations found in FTCs. SNV: Single nucleotide variant

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 Clinial correlation Literature
Gene
ARNT 1q21.3 N/A CNV unknown N/A Świerniak et al., 2016
CHEK2 22q12.1 protein kinase SNV, (C29,108,001A) gain of immortality N/A Świerniak et al., 2016, Wójcicka et al., 2014
COL1A1 17q21.33 pro-alpha1 chain of type I collagen indel, chr17: 48275120 unknown N/A Świerniak et al., 2016
COX6/DERL2 COX6/A1: 12q24.31, COX6/A2: 16p11.2, DERL2: 17p13.2 N/A translocation unknown N/A Świerniak et al., 2016
FBXW7 4q31.3 subunit of ubiquitin protein ligase complex called SCFs CNV unknown N/A Świerniak et al., 2016
FOXO4 Xq13.1 suppressor of transcription SNV, (C70,321,204 T) Deregulation of transcription, alters protein structure N/A Świerniak et al., 2016
IDH1 2q34 catalyzes the oxidative decarboxylation of isocitrate to 2-oxoglutarate LOH unknown N/A Świerniak et al., 2016
JAK3 19p13.11 Protein kinase intronic region unknown N/A Świerniak et al., 2016
KAZN-C1ORF196 KAZN: 1p36.21, C1ORF196: 1p36.21 unknown Gene fusion unknown N/A Salajegheh et al., 2016
KTN1 14q22.3 membrane protein involved in organelle motility deletion in chr14:56139994 unknown N/A Świerniak et al., 2016
MITF 3p13 transcription regulator insertion, chr3:69987750 unknown N/A Świerniak et al., 2016
NCOA2 8q13.3 epigenetic modifier chr8 position 71,053,835 A > C unknown N/A Świerniak et al., 2016
PAX8/PPARG PAX8: 2q14.1, PPARG: 3p25.2 N/A t(2;3)(q13;p25) translocation competitor inhibitor of PPARγ/ transcription factor similar to endogenous PPARγ N/A Lacroix et al., 2005, Giordano et al., 2006
PIK3CA 3q26.32 catalytic subunit of phosphatidylinositol 3-kinase CNV (gain) unknown N/A Hou et al., 2007
TMPRSS4 11q23.3 serine protease overexpression Promotes cancer cells proliferation, invasion and metastasis positive correlation with staging of tumor nodes metastasis Guan et al.,2015
TERT promoter 5p15.33 telomerase reverse transcriptase C228T (rs35809415), C250A, C250T(rs1020948523) unknown presence of metastases Bae et al., 2016
USP6 17p13.2 ubiquitin Specific Peptidase CNV unknown N/A Świerniak et al., 2016
WRN 8p12 repair od double stranded breaks LOH unknown N/A Świerniak et al., 2016
Regulation of expression
miR-199a-5p 19p13.2 regulator of CTFG in healthy cells Micro RNA Disruption of regulatory pathways, propagation of cancer Downregulation during tumorigenesis Sun et al., 2016