Table 2 Comparison of genomic alterations identified in plasma basal and tissue samples, only patients with both samples available are included.
Plasma basal | Tissue | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
Patient ID | Altered gene | Variant gene | Variant protein | VAF | Classification | Altered gene | Variant gene | Variant protein | VAF | Classification |
P1 | None | CDKN1B (CNV) | CNV | Pathogenic | ||||||
P2 | TP53 | c.537 T > A | p.His179Gln | 0.07 | Pathogenic | TP53 | c.537 T > A | p.His179Gln | 8.89 | Pathogenic |
P9 | KRAS | c.35G > T | p.Gly12Val | 0.07 | Pathogenic | KRAS | c.35G > T | p.Gly12Val | 4.37 | Pathogenic |
P10 | TP53 | c.992_993insT | p.Gln331HisfsTer6 | 0.19 | Likely pathogenic | None | ||||
P11 | TP53 | c.701A > G | p.Tyr234Cys | 0.18 | Pathogenic | |||||
KRAS | c.35G > T | p.Gly12Val | 17.74 | Pathogenic | ||||||
RNF43 | c.1179_1180insT | p.Ala394CysfsTer49 | 5.27 | Likely pathogenic | ||||||
NOTCH2 | c.2755C > T | p.Pro919Ser | 49.82 | VUS | ||||||
KRAS | c.35G > A | p.Gly12Asp | 11.13 | Pathogenic | ||||||
ARID1A | c.3980_3981insCGCA | p.Gln1327HisfsTer12 | 7.52 | Likely pathogenic | ||||||
POLE | c.1453A > G | p.Ile485Val | 49.61 | VUS | ||||||
P12 | None | None | ||||||||
P14 | None | TP53 | c.842A > G | p.Asp281Gly | 20.21 | Pathogenic | ||||
P13 | None | KRAS | c.35G > T | p.Gly12Val | 17.42 | Pathogenic | ||||
P22 | TP53 | c.659A > G | p.Tyr220Cys | 0.15 | Pathogenic | |||||
APC | c.3920delT | p.Ile1307LysfsTer14 | 1.1 | Likely pathogenic | ||||||
KRAS | c.35G > T | p.Gly12Val | 19.49 | Pathogenic | ||||||
TP53 | c.700 T > A | p.Tyr234Asn | 29.93 | Likely pathogenic | ||||||
P23 | TP53 | c.662_663delAG | p.Glu221AlafsTer3 | 0.08 | Likely pathogenic | TP53 | c.662_663delAG | p.Glu221AlafsTer3 | 5.97 | Likely pathogenic |
KRAS | c.35G > A | p.Gly12Asp | 4.02 | Pathogenic | ||||||
RB1 | c.1850delG | p.Gly617ValfsTer6 | 6.65 | Likely pathogenic | ||||||
P24 | TP53 | c.992_993insT | p.Gln331HisfsTer6 | 0.17 | Likely pathogenic | |||||
TP53 | c.768delA | p.Leu257TrpfsTer88 | 26.18 | Likely pathogenic | ||||||
KRAS | c.35G > T | p.Gly12Val | 14.86 | Pathogenic | ||||||
MSH6 | c.2562G > C | p.Lys854Asn | 33.89 | VUS | ||||||
CCNE1 (CNV) | CNV | Pathogenic | ||||||||
P25 | KRAS | c.35G > T | p.Gly12Val | 0.08 | Pathogenic | KRAS | c.35G > T | p.Gly12Val | 26.53 | Pathogenic |
TP53 | c.524G > A | p.Arg175His | 22.42 | Pathogenic | ||||||