Table 1.
Characterization of Sμ–Sα junctions
| Perfectly matched short homology | |||||||
| 0 bp | |||||||
| Study subjects | Direct end-joining (%) | Small insertions (%) | 1–3 bp (%) | 4–6 bp (%) | 7–9 bp (%) | ≥10 bp (%) | Total no. of S fragments |
| BRCA1+/− | 21 (11)*↓ | 40 (18) | 45 (21)***↓ | 32 (15) | 38 (18)*↑ | 38 (18)***↑ | 214 |
| BRIP1+/− | 1 (3) | 2 (6)*↓ | 6 (19) | 11 (35)***↑ | 10 (32)***↑ | 1 (3) | 31 |
| CtIPSCKL2 | 2 (14) | 1 (7) | 3 (21) | 5 (36)**↑ | 1 (7) | 2 (14) | 14 |
| BRCA2+/− | 4 (14) | 5 (17) | 10 (34) | 4 (14) | 2 (7) | 4 (14) | 29 |
| RNF168−/− | 2 (8) | 2 (8) | 3 (12)*↓ | 7 (27)*↑ | 8 (31)**↑ | 4 (15)*↑ | 26 |
| Controls, adults | 41 (16) | 56 (22) | 91 (36) | 29 (11) | 25 (10) | 14 (5) | 256 |
| BRIP1−/− | 8 (17) | 7 (15) | 7 (15) | 11 (24) | 9 (20) | 4 (9) | 46 |
| BRCA2−/− | 2 (6) | 9 (29) | 4 (13) | 5 (16) | 5 (16) | 6 (19) | 31 |
| Controls, 1-13 y | 31 (17) | 42 (23) | 36 (20) | 29 (16) | 19 (10%) | 26 (14) | 183 |
Statistical analysis was performed using χ2 test, and significant differences are indicated in bold. *P < 0.05, **P < 0.01, ***P < 0.001. All individuals were compared with adult controls (n = 31) for statistic calculations, except the BRCA2−/− and BRIP1−/− patients, who were compared with controls with younger ages (1–13 y, n = 20).