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, (C70,321,204Â 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 | 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 | 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 |