Table 1.
Genomic test results by next generation sequencing.
| Detected gene | Alterations | Alteration type | VAF or CN |
|---|---|---|---|
| TP53 | NM_000546.6:c.1024C>T,p.R324* | Nonsense mutation | 43.79% |
| TP53 | NM_000546.6:c.743G>A,p.R248Q | Missense mutation | 41.07% |
| BARD1 | NM_000465.4:c.513del,p.D172Mfs*40 | Frameshift deletion | 20.98% |
| ATR | NM_001184.4:c.2320dup4,p.I774Nfs*3 | Frameshift insertion | 8.85% |
| MSH2 | NM_000251.3:c.942 + 3A>T | Splice site mutation | 46.03% |
| MSH6 | NM_000179.3:c.3261dup,p.F1088Lfs*5 | Frameshift insertion | 14.07% |
| PDGFRA | amplification | Copy number gain | 13.82 |
VAF, variant allele frequency; CN, copy number; NGS, next-generation sequencing;”*” indicates a stop codon.