Table 4.
Recurrent somatic mutations in HCC tissues.
| Pathway | Gene | Frequency of Mutations | References | |||
|---|---|---|---|---|---|---|
| HBV-HCC | HCV-HCC | Alcoholic HCC | Combined etiologies* | |||
| Telomere maintenance | TERT | 31%~43% | 64%~80% | 68%~83% | 31%~65% | Nault et al., 2013; Totoki et al., 2014; Fujimoto et al., 2015; Schulze et al., 2015; Kawai-Kitahata et al., 2016; Yang Z. et al., 2016 |
| Wnt/beta-catenin pathway | CTNNB1 | 10%~16% | 24%~42% | 33%~50% | 11%~46% | Satoh et al., 2000; Li et al., 2011; Fujimoto et al., 2012; Guichard et al., 2012; Cleary et al., 2013; Kan et al., 2013; Ahn et al., 2014; Totoki et al., 2014; Schulze et al., 2015; Kawai-Kitahata et al., 2016; Rebouissou et al., 2016; Yao S. et al., 2016 |
| AXIN1 | 8% | 2%~21% | Satoh et al., 2000; Guichard et al., 2012; Kan et al., 2013; Ahn et al., 2014; Totoki et al., 2014; Schulze et al., 2015; Kawai-Kitahata et al., 2016 | |||
| Cell cycle | TP53 | 32%~68% | 12%~23% | 25% | 13%~52% | Li et al., 2011; Woo et al., 2011; Fujimoto et al., 2012; Guichard et al., 2012; Huang et al., 2012; Cleary et al., 2013; Kan et al., 2013; Nault et al., 2013; Ahn et al., 2014; Meng et al., 2014; Totoki et al., 2014; Schulze et al., 2015; Kawai-Kitahata et al., 2016; Yao S. et al., 2016 |
| IRF2 | 2%~5% | Guichard et al., 2012; Ahn et al., 2014 | ||||
| RB1 | 10% | 3%~10% | Kan et al., 2013; Ahn et al., 2014; Totoki et al., 2014; Yao S. et al., 2016 | |||
| CCND1 | 5% | 0%~6% | Ahn et al., 2014; Totoki et al., 2014; Schulze et al., 2015 | |||
| CDKN2A | 5% | 2%~8% | Guichard et al., 2012; Ahn et al., 2014; Totoki et al., 2014; Schulze et al., 2015; Kawai-Kitahata et al., 2016 | |||
| Epigenetic modifier | ARID1A | 7% | 1%~17% | Fujimoto et al., 2012; Guichard et al., 2012; Huang et al., 2012; Cleary et al., 2013; Ahn et al., 2014; Totoki et al., 2014; Schulze et al., 2015; Kawai-Kitahata et al., 2016; Yao S. et al., 2016 | ||
| ARID2 | 2%~3% | 14%~18% | 1%~18% | Li et al., 2011; Fujimoto et al., 2012, 2015; Guichard et al., 2012; Huang et al., 2012; Cleary et al., 2013; Ahn et al., 2014; Totoki et al., 2014; Schulze et al., 2015; Kawai-Kitahata et al., 2016; Yao S. et al., 2016 | ||
| MLL | 4% | 2%~7% | Fujimoto et al., 2012; Cleary et al., 2013; Ahn et al., 2014 | |||
| MLL2 | 5% | 5%~6% | Cleary et al., 2013; Ahn et al., 2014; Schulze et al., 2015 | |||
| MLL3 | 8% | 1%~7% | Fujimoto et al., 2012; Cleary et al., 2013; Ahn et al., 2014; Schulze et al., 2015 | |||
| MLL4 | 3%~7% | Cleary et al., 2013; Schulze et al., 2015 | ||||
| PI3K/Akt/mTOR and Ras/Raf/MAP kinase pathways | RPS6KA3 | 5% | 2%~10% | Guichard et al., 2012; Ahn et al., 2014; Totoki et al., 2014; Schulze et al., 2015 | ||
| PIK3CA | 1%~2% | Guichard et al., 2012; Totoki et al., 2014; Schulze et al., 2015; Kawai-Kitahata et al., 2016 | ||||
| FGF19 | 5% | 0%~6% | Ahn et al., 2014; Totoki et al., 2014; Schulze et al., 2015 | |||
| Stress oxidative pathway | NFE2L2 | 1%~6% | Guichard et al., 2012; Totoki et al., 2014; Schulze et al., 2015; Kawai-Kitahata et al., 2016 | |||
| KEAP1 | 2%~8% | Cleary et al., 2013; Totoki et al., 2014; Schulze et al., 2015 | ||||
| JAK/STAT pathway | JAK1 | 1%~9% | Kan et al., 2013; Ahn et al., 2014; Totoki et al., 2014 | |||
| Somatic copy number alteration | Gene | |||||
| Recurrent focal amplifications | TERT, FGF19, CCND1, MET, MTDH, BCL9, VEGFA | Sawey et al., 2011; Guichard et al., 2012; Wang et al., 2013; Totoki et al., 2014; Schulze et al., 2015 | ||||
| Homozygous deletions | CDKN2A, CDKN2B, CDKN2B, AXIN1, IRF2, ARID1A, RPS6KA3 | Guichard et al., 2012; Wang et al., 2013; Totoki et al., 2014; Schulze et al., 2015 | ||||
HBV, hepatitis B virus; HCC, hepatocellular carcinoma; HCV, hepatitis C virus.