Table 2.
Specific rare and novel CNVs detected in embryonal carcinoma (Twin-1t) and seminoma (Twin-2t)
| Tumor Sample | Cytoband | Start (pb) | Stop (pb) | Size (pb) | Event | CNV Classification a | Genes b |
|---|---|---|---|---|---|---|---|
| Twin-1 t | 16p11.2-p11.1 | 34.059.589 | 34.847.384 | 787796 | Gain | R | NI |
| Twin-2 t | 1p31.1 | 77.762.182 | 78.226.565 | 464384 | Gain | N | NI |
| 1p22.1 | 93.075.850 | 93.586.348 | 510499 | Gain | N | NI | |
| 2p23.3 | 27.431.951 | 27.496.511 | 64561 | Gain | N | EIF2B4 | |
| 2q33.1 | 201.865.021 | 202.014.428 | 149408 | Gain | N | NI | |
| 3q13.13 | 110.529.591 | 110.874.657 | 345067 | Loss | N | NI | |
| 3q13.33 | 120.713.729 | 120.813.244 | 99516 | Gain | N | NI | |
| 6p21.1 | 42.257.603 | 42.545.298 | 287696 | Gain | N | GUCA1A,GUCA1B, MRPS10 and TRERF1 | |
| 8p11.23 | 39.003.502 | 39.157.973 | 154472 | Loss | N | ADAM9 and ADAM32 | |
| 10q24.1-q24.2 | 99.386.286 | 99.516.551 | 130266 | Gain | N | PI4K2A, AVPI1, MARVELD1, ZFYVE27 and SFRP5 | |
| 12q13.3-q14.1 | 56.296.387 | 56.308.803 | 12417 | Loss | N | NI | |
| 12q24.31 | 119.381.319 | 119.652.493 | 271175 | Gain | N | NI | |
| 14q11.2 | 20.550.697 | 20.622.417 | 71721 | Loss | N | NI | |
| 14q23.1 | 58.887.110 | 59.149.379 | 262270 | Loss | N | NI | |
| 15q25.3-q26.1 | 86.730.625 | 86.986.408 | 255784 | Gain | N | MRPL46, MRPS11, DET1, MIR1179, MIR7-2, MIR3529, AEN and ISG20 | |
| 17p11.2 | 19.968.313 | 20.108.133 | 139821 | Loss | N | NI | |
| 17p13.1 | 7.423.749 | 7.459.204 | 35456 | Gain | N | NI | |
| 19q13.43 | 62.712.083 | 62.882.866 | 170784 | Gain | N | ZNF773, ZNF549, ZNF550, ZNF416, ZIK1, ZNF530, ZNF134, ZNF211 and ZSCAN4 | |
| 20q11.21 | 29.352.138 | 29.447.677 | 95540 | Gain | N | DEFB116, DEFB118 and DEFB119 | |
| Xp22.12-p22.11 | 20.043.034 | 21.803.101 | 1760068 | Gain | R | SCARNA9L, SMPX, YY2 and MBTPS2 |
Legend: CNV – copy number variation; Twin-1 t – embryonal carcinoma; Twin-2 t – seminoma. Rare – R; Novel – N; No identified – NI. a - CNV classification based on the Database of Genomic Variants and in the Brazilian population reference database. b- Genes mapped in regions described as rare or novel CNV.