Table 6.
Germline (G) and somatic (S) mutations affecting coding (c) and non-coding (nc) regions of repair genes in primary liver cancer
| Gene | Protein | Genetic mutation | G/S | Region | Protein mutation | Functional consequences | Clinical consequences | Studies | References |
|---|---|---|---|---|---|---|---|---|---|
| APEX1 | APE1 | c.444T>G | G | c | Asp148Glu | ND | Cisplatin resistance | HCC patients | [131] |
| BRCA1 | BRCA1 | c.185delT | G | c | High | Better OS. Therapy response | CCA patients | [132] | |
| c.5503C>T | S | c | Arg1835* | Moderate | Better OS. Therapy response | CCA patients | [132] | ||
| c.1961delA | S | c | Lys654fs*47 | ND | Better OS. Therapy response | CCA patients | [132] | ||
| c.5153G>T | S | c | Trp1718Leu | Moderate | Better OS. Therapy response | CCA patients | [132] | ||
| c.2293G>A | S | c | Glu765Lys | ND | Better OS. Therapy response | CCA patients | [132] | ||
| S | c | Asp825fs*21 | ND | Better OS. Therapy response | CCA patients | [132] | |||
| BRCA2 | BRCA2 | c. 6503delT | G | c | High | Better OS. Therapy response | CCA patients | [132] | |
| c. 6174delT | G | c | High | Better OS. Therapy response | CCA patients | [132] | |||
| c.9976A>T | S | c | Lys3326* | Moderate | Better OS. Therapy response | CCA patients | [132] | ||
| S | c | Leu2368fs*8 | ND | Better OS. Therapy response | CCA patients | [132] | |||
| S | c | Asn991fs*3 | ND | Better OS. Therapy response | CCA patients | [132] | |||
| c.9154C>T | S | c | Arg3052Trp | Moderate | Better OS. Therapy response | CCA patients | [132] | ||
| c.9257G>C | S | c | Gly3086Ala | ND | Better OS. Therapy response | CCA patients | [132] | ||
| ERCC1 | ERCC1 | c.133A>G | S | c | Ser45Gly | ND | ND | HCC patients | cBioportal |
| c.43G>T | S | c | Gly15Trp | ND | ND | HCC patients | cBioportal | ||
| ERCC2/XPD | ERCC2/XPD | c.1450A>G | S | c | Thr484Ala | ND | ND | HCC patients | cBioportal |
| c.215A>T | S | c | Tyr72Phe | ND | ND | HCC patients | cBioportal | ||
| c.1853T>G | S | c | Val618Gly | ND | ND | HCC patients | cBioportal | ||
| c.1378A>G | S | c | Thr460Ala | ND | ND | HCC patients | cBioportal | ||
| NHEJ1 | NHEJ1/XLF | c.518C>T | S | c | Thr173Met | ND | ND | HCC patients | cBioportal |
| XRCC1 | XRCC1 | c.580C>T | G | c | Arg194Trp | ND | Cisplatin resistance | HCC patients | [131] |
Data obtained from cBioportal and referred literature. Functional consequences are based on VEP (Variant Effect Predictor; https://www.ensembl.org/vep) impact: High means that the variant is supposed to cause a high disruptive impact in the protein, which is likely to cause loss of function; Moderate means that the variant may be not disruptive, but results in a decrease effectiveness of the encoded protein; Modifier is usually referred to non-coding variants, whose impact is difficult to determine, although they can be involved in transcription or splicing changes. CCA: cholangiocarcinoma; HCC: hepatocellular carcinoma; OS: overall survival; ND: not determined