Table 4.
Comparison of germline panel studies in HCC patients. The table describes only genes that were analyzed in at least two cohorts and where a carrier of heterozygous PV was found. Established high-to-moderate cancer predisposition genes are highlighted in bold letters.
| This Study; N (%) |
Uson Junior et al. 2022 (Ref. [9]); N (%) |
Mezina et al. 2021 (Prospective) (Ref. [10]); N (%) |
Mezina et al. 2021 (Retrospective) (Ref. [10]); N (%) |
|
|---|---|---|---|---|
| HCC patients analyzed (N) | 334 | 44 | 217 | 219 |
| Genes analyzed (N) | 226 | 83 | 134 | 1–154 |
| APC | 0 | 0 | 0 | 2 (0.91) |
| ATM | 0 | 0 | 0 | 1 (0.46) |
| BARD1 | 0 | 1 (2.27) | 0 | 1 (0.46) |
| BLM | 2 (0.59) | 0 | 0 | 0 |
| BRCA1 | 0 | 0 | 0 | 1 (0.46) |
| BRCA2 | 0 | 0 | 2 (0.92) | 6 (2.74) |
| BRIP1 | 0 | 0 | 4 * (1.84) | 1 (0.46) |
| CDKN2A | 0 | 1 (2.27) | 0 | 0 |
| CHEK2 | 0 | 0 | 3 * (1.38) | 2 (0.91) |
| FANCA | 1 (0.29) | n.a. | 5 (2.30) | 1 (0.46) |
| FANCD2 | 1 (0.29) | n.a. | 2 (0.92) | 0 |
| FANCG | 1 (0.29) | n.a. | 0 | 0 |
| FANCM | 0 | n.a. | 1 * (0.46) | 0 |
| FH | 1 (0.29) | 0 | 0 | 2 (0.91) |
| HOXB13 | 1 (0.29) | 0 | 0 | 0 |
| MITF | n.a. | 1 (2.27) | 1 * (0.46) | 1 (0.46) |
| MLH3 | 1 (0.29) | n.a. | 0 | 0 |
| MSH2 | 0 | 0 | 0 | 2 (0.91) |
| MSH3 | 2 (0.59) | n.a. | 1 * (0.46) | 0 |
| MSH6 | 0 | 0 | 1 (0.46) | 0 |
| MUTYH | 0 | 0 | 3 (1.38) | 2 (0.91) |
| NBN | 4 (1.19) | 2 (4.54) | 0 | 2 (0.91) |
| NF1 | 0 | 0 | 1 (0.46) | 0 |
| NTHL1 | n.a. | 0 | 0 | 1 (0.46) |
| PALB2 | 0 | 0 | 0 | 3 (1.37) |
| PMS2 | 1 (0.29) | 0 | 1 (0.46) | 0 |
| RAD50 | 3 * (0.89) | 1 (2.27) | 1 (0.46) | 0 |
| RAD51D | 0 | 1 (2.27) | 0 | 0 |
| RET | 1 (0.29) | 0 | 0 | 0 |
| SLX4 | 2 (0.59) | n.a. | 0 | 0 |
| SMARCA4 | 1 (0.29) | 0 | 0 | 0 |
| TMEM127 | 0 | 0 | 1 * (0.46) | 0 |
| TP53 | 0 | 0 | 0 | 2 (0.91) |
| Established PV carriers in CPG * | 7 (2.1) | 5 (11.4) | 12 (5.5) | 25 (11.4) |
| All carriers (referred in the study; N) | 47 (14.1) | 7 (15.9) | 25 (11.5) | 30 (13.7) |