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Table 1 Somatic mutations associated with susceptibility to differentiated thyroid cancers

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

Chromosomal location DbSNP identification No. Gene Gene function Cancer type Tested population Literature
1p31.3 rs334725 NFIA Nuclear transcription factor PTC, FTC Icelandic, American, Dutch, Spanish Gudmundsson et al., 2012
1q42.2 rs12129938 PCNXL2 Correlated with tumorigenesis of colorectal carcinomas DTC Icelandic, American, Spanish, Dutch Gudmundsson et al., 2017
2q35 rs966423, rs6759952 DIRC3 lincRNA PTC, FTC Icelandic, American, Dutch, Spanish, Polish Gudmundsson et al., 2012, Liyanarachchi et al., 2013
     DTC Italian, Polish, Spanish, English Köhler et al., 2013
3q25.32 rs7617304 RARRES1 Membrane protein gene responsive to retinoid acid DTC Italian Köhler et al., 2013
3q26.2 rs6793295 LRCC34 near TERC (missense) RNA telomerase PTC, FTC Icelandic, American, Spanish, Dutch Gudmundsson et al., 2017
4q34.3 rs17739370 TT variant NEIL3 DNA repair, BER DTC Italian Cipollini et al., 2016
5q22.1 rs73227498 NREP and EPB41L4A Intergenic region PTC, FTC Icelandic, American, Spanish, Dutch Gudmundsson et al., 2017
5 rs13184587 ARSB intron Intron of lysosomal sulfatase DTC Italian Figlioli et al., 2014
7q21 rs10238549, rs7800391 IMMP2L Processing of signal peptides in mitochondrial membrane DTC Italian Köhler et al., 2013
8p12 rs2439302 NRG1 membrane glycoprotein, signaling mediator PTC, FTC Icelandic, American, Dutch, Spanish Gudmundsson et al., 2012
8q24 rs6983267 ncRNA N/A PTC English Jones et al., 2012
9q3.3 rs10781500 SNAPC4 Large subunit of the DNAP complex DTC Italian Köhler et al., 2013
9q22.33 rs965513, rs1867277 (5’UTR region), rs71369530 Proximity to FOXE1 Deregulation of thyroid morphogenesis PTC Icelandic, Caucasian, Asian, Cuban, English, Belarussian, French Polynesian Jones et al., 2012, Gudmundsson et al., 2009, Liyanarachchi et al., 2013, Damiola et al., 2014, Wang et al., 2016, Pereda et al., 2015, Maillard et al., 2015
10q24.33 rs7902587 near OBFC1 Stimulator of DNA replication initiation factor PTC, FTC Icelandic, American, Spanish, Dutch Gudmundsson et al., 2017
11 rs1801516 ATM Cell-cycle checkpoint, response to DNA damage DTC Cuban women after multiple pregnancies, French Polynesian Pereda et al., 2015, Maillard et al., 2015
13 rs1220597 SPATA13 intron Regulation of cell migration and adhesion, guanine nucleotide exchange factor DTC Italian Figlioli et al., 2014
14q13.3 rs116909374 NKX2–1 Thyroid-specific transcription factor PTC, FTC Icelandic, American, Dutch, Spanish, Polish Gudmundsson et al., 2012, Liyanarachchi et al., 2013
14q13.3 rs944289 Close to NKX2–1 Thyroid-specific transcription factor PTC, FTC Icelandic, Cuban, English, American, Polish, French Polynesian Jones et al., 2012, Gudmundsson et al., 2009, Liyanarachchi et al., 2013, Pereda et al., 2015, Maillard et al., 2015
14 241(Thr > Met) XRCC3 DNA repair, homologous recombination DTC Chinese, Iranian, Caucasian Portuguese Wang et al., 2015, Fayaz et al., 2014, Bastos et al., 2009
14 rs10136427 BATF Transcription factor, negative regulator of AP-1/ATF transcriptional events DTC Italian, Polish, Spanish Figlioli et al., 2014
15q22.33 rs2289261, rs56062135 SMAD3 Transcriptional modulator PTC, FTC Icelandic, American, Spanish, Dutch Gudmundsson et al., 2017
20 rs7267944 DHX35 RNA helicases DTC Italian, Polish, Spanish Figlioli et al., 2014
  1. Variants determined by GWAS. DTC Unspecified differentiated thyroid cancer, PTC Papillary thyroid cancer, FTC Follicular thyroid cancer