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. 2026 Jan 30;16:1727445. doi: 10.3389/fonc.2026.1727445

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.