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Table 2 Somatic mutations characteristic of PTCs

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 Clinical correlation Literature
Gene
BRAF 7q34 Serine/threonine kinase, response to cell growth factors B-type Raf Kinase (chr 7) 2 Missense mutation V600E (T < A 1799), rs113488022 Constitutive activation of MAPK pathway Positive correlation with age, marker of TCV subtype TCGA, Kimbrell et al., 2015, Lu et al., 2016, Gandolfi et al., 2013, Kim et al., 2006, Guerra et al., 2012, Sun et al., 2016, Gertz et al., 2016, Iyer et al., 2015, Lee et al., 2016
CHEK2 22q12.1 Cell cycle checkpoint kinase IVS2 + 1G > A, 1100delC or del5395, missense mutation I157T DNA repair mechanism dysfunctions Positive correlation with cancer aggressiveness Siolek et al., 2015, Wójcicka et al., 2014, Kaczmarek-Ryś et al., 2015
DLL4 15q15.1 Notch signaling mediator Patient specific mutations Promotes angiogenesis Correlated with presence of lymph node metastases Le Pennec et al., 2015
EIF1AX Xp22.12 Translation initiation factor, transfer of Met-tRNAf Hotspot at A113_splice site intron 5/exon 6 Potential driver mutation N/A TCGA, Forbes 2011, Martin 2013, Karanamurthy 2016
FOXE1 9q22.33 Transcription factor rs965513 AA, AG; rs944289; c.821C > A, p.P54Q; c.943A > C p.K95Q; c.994C > T, p.L112F Deregulation of thyroid morphogenesis Thyroid cancer susceptibility marker Mond et al., 2015, Gudmundsson et al., 2009, Penna-Martinez et al., 2014
PIK3CA 3q26.32 PI3K/AKT/mTOR pathway effector E545A Mutation of helical domain N/A Lee et al., 2016
PTEN 10q23.31 PI3K/AKT/mTOR pathway effector N/A Produces a truncated protein N/A Xing et al., 2013
RAS 11p15.5, 1p13.2, 12p12.1 Signal transduction H-Ras (chr11), N-Ras (chr1), K-Ras (chr12) Preferential activation of PI3K-AKT pathway Positive correlation with cancer aggressiveness Rossi et al., 2015, Gertz et al., 2016, Abubaker et al., 2008, Zou et al., 2014
TERT promoter 5p15.33 Telomerase reverse transcriptase C > T 1295228 and 1,295,250 C > A at 1295250 Gain of immortality Positive correlation with cancer aggressiveness Bae et al., 2016, Liu et al., 2014, Liu et al., 2013, Sun et al., 2016
Chromosomal Abberations
RET 10q11.21 Tyrosine kinase transmembrane receptor Rearrangements: RET/PTC1, RET/PTC2, RET/PTC3, RET/PTC4. RET/PTC5, RET/PTC6, RET/PTC7, RET/PTC8, RET/PTC9, PCM1-RET, EKLS-RET, FKBP-RET, RET-ANK3, TBL1XR1-RET, AKAP13-RET, ERC1-RET, HOOK3-RET, SPECC1L-RET, ACBD5-RET, ΔRFP-RET Downstream signaling of MAPK and PI3K pathways, evasion of apoptosis Common in pediatric PTC, common co-occurrence with BRAF mutation TCGA, Gertz et al., 2016, Rossi et al., 2015, Hamatani et al., 2014, Corvi et al., 2000, Ciampi et al., 2007, Klugbauer et al., 1998, Salassidis et al., 2000, Saenko et al., 2003, Nakata et al., 1999, Hamatani et al., 2014, Bongarzone et al., 1993, Grieco et al., 1990
Abnormal expression
ATP5E 20q13.32 ATPase subunit 5E Down-regulation Disruption of ATP synthesis in mitochondria Potential PTC biomarker Hurtado-Lopez et al., 2015
MUC1 1q22 Proliferation and signaling of epithelial cells Overexpression Leads to propagation of tumorigenesis and metastasis Poor outcome marker Renaud et al., 2014
TMPRSS4 11q23.3 Serine protease Overexpression Migration and metastasis of cancer cells Malignant tumors Kebebew et al., 2005, Jarzab et al., 2005, Guan et al., 2015
YY1 14q32.2 Transcription factor Overexpression Leads to increased cell proliferation Positive correlation with age Arribas et al., 2015
Regulation Of Expression
micro RNA Xp11.3 Regulation of expression of affiliated genes let-7 miRNA overexpression Disruption of regulatory pathways (e.g. DNA damage response, stress response), propagation of cancer growth and expansion through down/up-regulation of target genes N/A Salajegheh et al., 2016, Yoruker et al., 2016, Lee et al., 2013, Zhang et al., 2010, Lei et al., 2016, Hong et al., 2016, Samsonov et al., 2016, Hu et al., 2017
9p21.3 miR-31 overexpression
8q24.3 miR-146b overexpression
19q13.41 miR-151-5p overexpression
10q24.32 miR-221 overexpression
Xp11.3 miR-222 overexpression
17q23.1 miR-21 down-regulation
9q34.3 miR-126 down-regulation
19p13.12 miR-20b
Xq26.2 miR-639