Table 1.
Somatic mutations associated with susceptibility to differentiated thyroid cancers
| 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 |
Variants determined by GWAS. DTC Unspecified differentiated thyroid cancer, PTC Papillary thyroid cancer, FTC Follicular thyroid cancer