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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

Åšwierniak 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

Åšwierniak et al., 2016

COX6/DERL2

COX6/A1: 12q24.31, COX6/A2: 16p11.2, DERL2: 17p13.2

N/A

translocation

unknown

N/A

Åšwierniak et al., 2016

FBXW7

4q31.3

subunit of ubiquitin protein ligase complex called SCFs

CNV

unknown

N/A

Åšwierniak et al., 2016

FOXO4

Xq13.1

suppressor of transcription

SNV, (C70,321,204 T)

Deregulation of transcription, alters protein structure

N/A

Åšwierniak et al., 2016

IDH1

2q34

catalyzes the oxidative decarboxylation of isocitrate to 2-oxoglutarate

LOH

unknown

N/A

Åšwierniak et al., 2016

JAK3

19p13.11

Protein kinase

intronic region

unknown

N/A

Åšwierniak 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

Åšwierniak et al., 2016

MITF

3p13

transcription regulator

insertion, chr3:69987750

unknown

N/A

Åšwierniak et al., 2016

NCOA2

8q13.3

epigenetic modifier

chr8 position 71,053,835 A > C

unknown

N/A

Åšwierniak 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

Åšwierniak et al., 2016

WRN

8p12

repair od double stranded breaks

LOH

unknown

N/A

Åšwierniak 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