Table 2.
| Donor | Middle | Acceptor | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Samples | Chr | Position | Strand | Type | Seq | Chr | Position | Strand | Breakpoint | Genes | Verification | TERG ID |
| 6_T1, 6_T2 | 21 | 39867180 | + | HOMOLOGY | T | 21 | 42877104 | + | deletion | ERG-TMPRSS2 | CS & P (6_T1); V (6_T1, 6_T2) | A |
| 6_T1, 6_T4 | 21 | 39877208 | + | HOMOLOGY | T | 21 | 42871170 | + | deletion | ERG-TMPRSS2 | P (6_T1); V (6_T1, 6_T4) | B |
| 6_T1, 6_T4 | 21 | 39877355 | − | HOMOLOGY | CC | 21 | 42819405 | − | insertion | ERG-MX1 | CS & P (6_T1); V (6_T1, 6_T4) | |
| 6_T1, 6_T4 | 21 | 39877745 | + | NTS | CAT | 21 | 39880855 | + | deletion | ERG-ERG | CS & P (6_T1); V (6_T1, 6_T4) | |
| 6_T3 | 20 | 10441211 | − | HOMOLOGY | G | 21 | 39872887 | + | translocation | C20orf94-ERG | CS & P & V (6_T3) | |
| 6_T3 | 20 | 10441429 | + | HOMOLOGY | GT | 21 | 42868518 | − | translocation | C20orf94-TMPRSS2 | CS & P & V (6_T3) | |
| 6_T3 | 21 | 39872930 | + | Exact | --- | 21 | 42868510 | + | deletion | ERG-TMPRSS2 | CS & P & V (6_T3) | C |
| 7_T1, 7_T2 | 1 | 205613440 | + | HOMOLOGY | C | 21 | 42857784 | − | translocation | _-TMPRSS2 | V (7_T1, 7_T2) | |
| 7_T1, 7_T2 | 2 | 204298424 | − | HOMOLOGY | A | 21 | 42849002 | + | translocation | RAPH1-TMPRSS2 | V (7_T1, 7_T2) | |
| 7_T1, 7_T2 | 2 | 204298476 | + | Exact | --- | 19 | 42797705 | + | translocation | RAPH1-CIC | P (7_T1); V (7_T1, 7_T2) | |
| 7_T1, 7_T2 | 10 | 120084722 | − | HOMOLOGY | TG | 21 | 42842154 | + | translocation | C10orf84-TMPRSS2 | CS & P (7_T1); V (7_T1, 7_T2) | |
| 7_T1, 7_T2 | 10 | 120084747 | + | HOMOLOGY | AC | 21 | 39872234 | + | translocation | C10orf84-ERG | CS & P (7_T2); V (7_T1, 7_T2) | |
| 7_T1, 7_T2 | 21 | 39872152 | + | HOMOLOGY | A | 21 | 42861527 | + | deletion | ERG-TMPRSS2 | CS & P (7_T1); V (7_T1, 7_T2) | D |
| 7_T1, 7_T2 | 21 | 42842403 | + | Exact | --- | 21 | 42848506 | − | inversion_+ | TMPRSS2-TMPRSS2 | CS & P (7_T1); V (7_T1, 7_T2) | |
| 7_T2 | 21 | 39831266 | + | HOMOLOGY | AAAC | 21 | 42875633 | + | deletion | ERG-TMPRSS2 | CS & P & V (7_T2) | E |
| 7_T3 | 21 | 39861568 | + | NTS | TA | 21 | 42865303 | + | deletion | ERG-TMPRSS2 | CS & P & V (7_T3) | F |
| 7_T4 | 21 | 39835734 | + | HOMOLOGY | G | 21 | 42867100 | + | deletion | ERG-TMPRSS2 | CS & P & V (7_T4) | G |
| 7_T4 | 21 | 42841552 | − | HOMOLOGY | GGCT | 21 | 42851963 | + | inversion_− | TMPRSS2-TMPRSS2 | CS & P & V (7_T4) | |
| 7_T4, 7_T5 | 21 | 39868722 | + | Exact | --- | 21 | 42870051 | + | deletion | ERG-TMPRSS2 | CS & P (7_T4); V (7_T4, 7_T5) | H |
| 8_T1, 8_T2 | 21 | 38745261 | + | HOMOLOGY | T | 21 | 42851601 | − | inversion_+ | DYRK1A-TMPRSS2 | P (8_T1); V (8_T1, 8_T2) | |
| 8_T1, 8_T2 | 21 | 38745286 | − | HOMOLOGY | A | 21 | 42859198 | − | insertion | DYRK1A-TMPRSS2 | CS & P (8_T1); V (8_T1, 8_T2) | |
| 8_T1, 8_T2 | 21 | 39831518 | + | Exact | --- | 21 | 42870497 | − | inversion_+ | ERG-TMPRSS2 | CS (8_T1); P & V (8_T1, 8_T2) | I |
| 8_T1, 8_T2 | 21 | 42844460 | − | HOMOLOGY | T | 21 | 42851648 | + | inversion_− | TMPRSS2-TMPRSS2 | V (8_T1, 8_T2) | |
| 8_T1, 8_T2 | 21 | 42863787 | − | HOMOLOGY | G | 21 | 42870663 | + | inversion_− | TMPRSS2-TMPRSS2 | CS & P (8_T1); V (8_T1, 8_T2) | |
Patterns of ERG alterations. Positions and structure of each ERG breakpoints and related rearrangements. The position and structure of the breakpoint was determined, in the majority of cases, by capillary sequencing using custom-designed PCR across the rearrangement breakpoint as previously described30 (“CS” in column “Verification”), and/or by in-silico reconstruction using local de novo assembly in Brass phase 2. Verification by sizing PCR products across the breakpoint using gel electrophoresis was also performed (“P”). All breakpoints were visually verified (“V”) to ensure the presence of discordant reads and checked that they did not occur in repeat regions.