Table 8.
Somatic (S) mutations affecting coding (c) and non-coding (nc) regions of anti-apoptotic genes in primary liver cancer
| Gene | Protein | Genetic mutations | G/S | Region | Protein mutation | Functional consequences | Clinical consequences | Studies | References |
|---|---|---|---|---|---|---|---|---|---|
| CTNNB1 | Catenine beta-1 | c.95A>G/T | S | c | Asp32Gly/Val | Gain-of-function | Controversial | HCC patients | [157,158] |
| c.94G>T | Asp32Tyr | ND | ND | HCC patients | [159,160] | ||||
| c.94G>C | Asp32His | dbEMT | |||||||
| c.98C>G/A/T/c.97T>C/G | S | c | Ser33Cys/Tyr/Phe/Pro/Ala | Gain-of-function | Controversial | HCC patients | [157-160] | ||
| c.99_113del15 | S | c | Gly34_Gly38delGlyIle HisSerGly |
ND | ND | HCC | dbEMT | ||
| c.1202T>A | Leu401His | ND | ND | HCC | dbEMT | ||||
| c.110C>G/A/T /c.109T>C/G | S | c | Ser37Cys/Tyr/Phe/Pro/Ala | Gain-of-function | Controversial | HCC patients | [157-160] | ||
| c.121A>G/ c.122C>T/A | S | c | Thr41Ala/Ile/Asn | Gain-of-function | Controversial | HCC patients | [157-160] | ||
| c.134C>G/A/T/c.133T>C/G | S | c | Ser45Cys/Tyr/Phe/Pro/Ala | Gain-of-function | Controversial | HCC patients | [157-160] | ||
| JAK1 | JAK1 | c.1932G>T/c.1933G>T (tandem mutation) | S | c | Gln644His/Val645Phe | Gain-of-function | ND | HCC in vitro and patients | [161] |
| c.2108G>T | S | c | Ser703Ile | Gain-of-function | ND | HCC in vitro and patients | [161] | ||
| c.2185A>T | S | c | Ser729Cys | Gain-of-function | ND | HCC in vitro and patients | [161] | ||
| KRAS | K-Ras | c.35G>T/A/c.34G>T/A | S | c | Gly12Val/Asp/Cys/Ser | Gain-of-function | Reduced survival | CCA patients | [162,132] |
| mtDNA | COX1 | m.T6115C | S | c | Met71Thr | Loss-of-function | ND | HCC patients | [164] |
| ATP8 | m.G8387A | S | c | Val8Met | Loss-of-function | ND | HCC patients | [164] | |
| ND5 | m.G13121A | S | c | Arg262His | Loss-of-function | ND | HCC patients | [164] | |
| ND6 | m.T14180C | S | c | Tyr165Cys | Loss-of-function | ND | HCC patients | [164] | |
| PIK3CA | PI3K p110α subunit | c.3204_320 5insA | S | c | Asn1068fs*4 | Gain-of-function | ND | HCC patients | COSMIC |
| c.3140A>G | S | c | His1047Arg | Gain-of-function | ND | HCC patients | COSMIC | ||
| c.1624G>A | S | c | Glu542Lys | Gain-of-function | ND | HCC patients | COSMIC | ||
| c.1633G>A | S | c | Glu545Lys | Gain-of-function | ND | HCC patients | COSMIC | ||
| PTEN | PTEN | Loss of hetero zygosity at 10q23 | S | c | Lower expression | ND | HCC patients | [165,166] | |
| TSC1 | TSC1 | c.2278delA | S | c | Arg760fs | Loss-of-function | ND | HCC patients | [167] |
| c.965dupT | S | c | Met322fs | Loss-of-function | ND | HCC patients | [167] | ||
| TSC2 | TSC2 | c.3400G>A | S | c | Gly1134Ser | Loss-of-function | ND | HCC patients | [167] |
| c.4653_4655 delAGA | S | c | 1551_1552del | Loss-of-function | ND | HCC patients | [167] | ||
| c.3050C>G | S | c | Thr1017Arg | Loss-of-function | ND | HCC patients | [167] | ||
| c.2355G>T | S | c | Gln785His | Loss-of-function | ND | HCC patients | [167] | ||
| c.4129C>T | S | c | Gln1377* | Loss-of-function | ND | HCC patients | [167] | ||
| c.4129C>T | S | c | Gln1377* | Loss-of-function | Rapamycin sensitivity | HCC in vitro / HCC patients | [167] | ||
| c.173C>T | S | c | Gln63* | Loss-of-function | Rapamycin sensitivity | HCC in vitro / HCC patients | [167] | ||
| c.482-2A>T | S | nc | intron 5 splicing acceptor | Loss-of-function | ND | HCC patients | [167] | ||
| c.2355+1G>T | S | nc | intron 21 splicing donor | Loss-of-function | ND | HCC patients | [167] | ||
| c.1947-2delA | S | nc | intron 18 splicing acceptor | Loss-of-function | ND | HCC patients | [167] |
Data obtained from COSMIC database, dbEMT and referred literature. CCA: cholangiocarcinoma; HCC: hepatocellular carcinoma; ND: not determined