Table 2.
The main genomic variants detected in the current case of MPTT.
| Clinical Summary | Gene | Alteration/Mutation Effect |
|---|---|---|
| Potentially Actionable | ERBB2 (HER2) | Copy number gain |
| Biologically Relevant | TP53 | c.527G > T p.C176F NM_000546 Missense variant—loss of funcgtion (LOF) |
| BRD4 | Copy number gain | |
| TYMS | Copy number gain | |
| Unknown Significance | HSPH1 | c.2348G > T p.R783L Missense variant NM_001286504 |
| ATM | c.8938C > G p.L2980V Missense variant NM_000051 | |
| PDCD1 (PD-1) | c.715G > A p.V239M Missense variant NM_005018 | |
| BARD1 | c.1339C > A p.L447I Missense variant NM_000465 | |
| MSH3 | c.177_178ins(18) p.A59_A60insPPAPPA Inframe insertion NM_002439 | |
| LRP1B | c.10414G > A p.D3472N Splice region variant NM_018557 | |
| KMT2C (MLL3) c | c.7443-2dup Splice region variant NM_170606 | |
| GNA11 | c.735+1_736-1del Splice region variant NM_002067 | |
| RUNX1 | c.1265A > C p.E422A Missense variant NM_001754 |