Table 1.
Mutation frequencies of BRCA1, BRCA2, and of other frequently mutated DDR genes.
| Gene | Esophageal (%) | Gastric (%) | Pancreatic (%) | HCC (%) | CRC (%) | BTC (%) |
|---|---|---|---|---|---|---|
| BRCA1 | 0.48† | 1.3–1.4†‡ | s: 0.29†–0.6‡ | 0† | 1.06† | |
| g: 1–7§ | ||||||
| BRCA2 | s: 2.91† | s: 3.1–3.3†‡ | s: 2.3†–3‡ | 0† | 2.2† | |
| g: 3–12~ | g: 5.7** | g: 6–17$ | ||||
| PALB2 | s: 0.81† | 0.6# | 1.17† | 0† | 0.69† | |
| ATM | 3.23† | 3.6†–18†† | 4.08† | 0.87† | 4.57† | |
| ATR | 0.32† | 0† | 0.29† | 0† | 0.73† | |
| CHK2 | 0.97† | 0.6† | 2.33† | 4.35† | 1.3† | |
| WRN | 0.16† | 0.12† | 0.29† | 0† | 0.29†–1.2§§ | |
| overall HRR Mut | 20.8† | 15.4† | 28.9† | 20.3†–22.8‡‡ | 15.0† | |
s, somatic; g, germline; no annotation, somatic mutation; BTC, biliary tract cancer; HCC, hepatocellular cancer; CRC, colorectal cancer; HRR, homologous recombination repair. †Heeke et al. (10), §Ricci et al. (11), §§Zimmer et al. (12), ‡Spizzo et al. (13), $Klein et al. (14), ~Ko et al (15), Akbari et al. (16), Hu et al. (17), **Figer et al. (18), ‡‡Lin et al. (19), ††Russel et al. (20), #Seeber et al. (21).