Table 2.
Frequencies of ISDs, inversions, and sequential switching at CSR junctions
| Study subjects | ISDs (%) | Inversions (%) | Sequential switching (%) | Total no. of S junctions |
| Sμ–Sα | ||||
| BRCA1+/− | 85 (37)*↑ | 9 (4)*↑ | 8 (4) | 227 |
| BRIP1+/− | 11 (34) | 0 (0) | 1 (3) | 32 |
| CtIPSCKL2 | 2 (14) | 0 (0) | 0 (0) | 14 |
| BRCA2+/− | 14 (44) | 2 (6)*↑ | 1 (3) | 32 |
| RNF168−/− | 11 (42) | 0 (0) | 0 (0) | 26 |
| Controls, adults | 78 (29) | 2 (1) | 7 (3) | 268 |
| BRIP1−/− | 15 (31) | 1 (2) | 2 (4) | 48 |
| BRCA2−/− | 8 (25) | 1 (3) | 0 (0) | 32 |
| Controls, 1–13 y | 59 (32) | 1 (1) | 3 (2) | 187 |
| Sμ–Sγ | ||||
| BRCA1+/− | 59 (41)***↑ | 3 (2) | 16 (11)**↑ | 143 |
| RNF168−/− | 8 (24) | 0 (0) | 7 (21)***↑ | 33 |
| Controls, adults | 7 (12) | 0 (0) | 0 (0) | 59 |
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 Sμ–Sα junctions and n = 33 for Sμ–Sγ junctions) for statistical analysis, except the BRIP1−/− and BRCA2−/− patients, who were compared with controls with younger ages (1–13 y, n = 20).