Table 3.
Fusion Junctions in Cases 1–6
| No. of Fusion Junctions | No. of Fusion Junctions Characterized in This Studya | Sequences at the Fusion Junctions |
Predicted Mechanism | ||
|---|---|---|---|---|---|
| Microhomology | Nucleotide Stretch | ||||
| Case 1 | 1 | 1 | Yes (4 bp) | Yes (2 bp) | RBM |
| Case 2 | 1 | 1 | Yes (2 bp) | No | RBM |
| Case 3b | 2? | 0 | Unknown | Unknown | RBM? |
| Case 4 | 5 | 1 | Yes (20 bp) | No | RBM |
| Case 5 | 3 | 1 | Yes (3 bp) | Yes (5 bp) | RBM |
| Case 6 | 2 | 2 | Yes (3 bp)c/No | No | RBM |
Abbreviation: RBM, replication-based mechanism.
a
Several breakpoints could not be determined due to low quality of the DNA samples, the presence of long repetitive sequences around the breakpoints, or the complex structures of the rearrangements.
b
Genomic structure of the rearrangement in case 3 remains to be characterized.
c
Microhomology was observed at the telomeric junction.