Results of NGS-based liquid biopsy in 2021
| Trials | Gene | Variant | Description | No. of labs (%) |
|---|---|---|---|---|
| 1st GNL-21-01 | BRAF | Detected | c.1799T>A (p.Val600Glu) | 4 (100.0) |
| EGFR (1) | Detected | c.2236_2250del (p.Glu746_Ala750del) | 5 (100.0) | |
| EGFR (2) | Detected | c.2369C>T (p.Thr790Met) | 5 (100.0) | |
| EGFR (3) | Detected | c.2573T>G (p.Leu858Arg) | 4 (100.0) | |
| KRAS | Detected | c.34G>A (p.Gly12Ser) | 4 (80.0) | |
| Not detected | - | 1 (20.0) | ||
| PIK3CA | Detected | c.353G>A (p.Gly118Asp) | 5 (100.0) | |
| TP53 (1) | Detected | c.818G>A (p.Arg273His) | 4 (100.0) | |
| TP53 (2) | Not detected | - | 4 (100.0) | |
| TP53 (3) | Detected | c.742C>G (p.Arg248Gly) | 5 (100.0) | |
| TP53 (4) | Not detected | - | 5 (100.0) | |
| 1st GNL-21-02 | BRAF | Not detected | - | 4 (100.0) |
| EGFR (1) | Detected | c.2236_2250del (p.Glu746_Ala750del) | 3 (60.0) | |
| c.2235_2249del (p.Glu746_Ala750del) | 2 (40.0) | |||
| EGFR (2) | Not detected | - | 5 (100.0) | |
| EGFR (3) | Detected | c.2573T>G (p.Leu858Arg) | 4 (100.0) | |
| KRAS | Detected | c.34G>T (p.Gly12Cys) | 5 (100.0) | |
| PIK3CA | Not detected | - | 5 (100.0) | |
| TP53 (1) | Not detected | - | 4 (100.0) | |
| TP53 (2) | Detected | c.743G>A (p.Arg248Gln) | 4 (100.0) | |
| TP53 (3) | Not detected | - | 5 (100.0) | |
| TP53 (4) | Detected | c.560-1G>A | 4 (80.0) | |
| c.560-1G>A (p.?) | 1 (20.0) | |||
| 2nd GNL-21-03 | APC | Detected | c.5947G>T (p.Glu1983Ter) | 3 (75.0) |
| c.5947G>T p.Glu1983Ter | 1 (25.0) | |||
| BRAF | Detected | c.1799T>A (p.Val600Glu) | 5 (83.3) | |
| c.1799T>A p.Val600Glu | 1 (16.7) | |||
| CDKN2A (1) | Not detected | - | 4 (100.0) | |
| CDKN2A (2) | Detected | c.200G>T (p.Gly67Val) | 3 (75.0) | |
| c.200G>T p.Gly67Val | 1 (25.0) | |||
| CTNNB1 | Not detected | - | 4 (100.0) | |
| EGFR (1) | Detected | c.2235_2249del (p.Glu746_Ala750del) | 5 (83.3) | |
| c.2235_2249del p.Glu746_Ala750del | 1 (16.7) | |||
| EGFR (2) | Not detected | - | 6 (100.0) | |
| EGFR (3) | Not detected | - | 6 (100.0) | |
| FGFR3 | Not detected | - | 4 (100.0) | |
| FLT3 | Detected | c.969C>A (p.Asn323Lys) | 3 (75.0) | |
| c.969C>A p.Asn323Lys | 1 (25.0) | |||
| KIT | Detected | c.878A>G (p.Asn293Ser) | 3 (75.0) | |
| c.878A>G p.Asn293Ser | 1 (25.0) | |||
| KRAS | Detected | c.34G>A (p.Gly12Ser) | 5 (83.3) | |
| c.34G>A p.Gly12Ser | 1 (16.7) | |||
| MLH1 | Detected | c.311del (p.Leu104TrpfsTer4) | 2 (50.0) | |
| c.311del p.Leu104TrpfsTer4 | 1 (25.0) | |||
| c.311delT (p.Leu104TrpfsTer4) | 1 (25.0) | |||
| PALB2 | Detected | c.1676A>G (p.Gln559Arg) | 2 (100.0) | |
| PIK3CA | Not detected | - | 6 (100.0) | |
| STK11 | Detected | c.109C>T (p.Gln37Ter) | 3 (75.0) | |
| c.109C>T p.Gln37Ter | 1 (25.0) | |||
| TP53 (1) | Not detected | - | 4 (100.0) | |
| TP53 (2) | Detected | c.742C>G (p.Arg248Gly) | 5 (83.3) | |
| c.742C>G p.Arg248Gly | 1 (16.7) | |||
| 2nd GNL-21-04 | APC | Not detected | - | 4 (100) |
| BRAF | Not detected | - | 6 (100.0) | |
| CDKN2A (1) | Detected | c.205G>T (p.Glu69Ter) | 3 (75.0) | |
| c.205G>T p.Glu69Ter | 1 (25.0) | |||
| CDKN2A (2) | Not detected | - | 4 (100.0) | |
| CTNNB1 | Detected | c.223A>G (p.Thr75Ala) | 3 (75.0) | |
| c.223A>G p.Thr75Ala | 1 (25.0) | |||
| EGFR (1) | Detected | c.2236_2250del (p.Glu746_Ala750del) | 5 (83.3) | |
| c.2235_2249del p.Glu746_Ala750del | 1 (16.7) | |||
| EGFR (2) | Detected | c.2369C>T (p.Thr790Met) | 5 (83.3) | |
| c.2369C>T p.Thr790Met | 1 (16.7) | |||
| EGFR (3) | Detected | c.2573T>G (p.Leu858Arg) | 5 (83.3) | |
| c.2573T>G p.Leu858Arg | 1 (16.7) | |||
| FGFR3 | Detected | c.101G>A (p.Arg34Gln) | 3 (75.0) | |
| c.101G>A p.Arg34Gln | 1 (25.0) | |||
| FLT3 | Not detected | - | 4 (100.0) | |
| KIT | Not detected | - | 4 (100.0) | |
| KRAS | Detected | c.34G>T (p.Gly12Cys) | 5 (83.3) | |
| c.34G>T p.Gly12Cys | 1 (16.7) | |||
| MLH1 | Not detected | - | 4 (100.0) | |
| PALB2 | Detected | c.1676A>G (p.Gln559Arg) | 2 (100.0) | |
| PIK3CA | Detected | c.353G>A (p.Gly118Asp) | 5 (83.3) | |
| c.353G>A p.Gly118Asp | 1 (16.7) | |||
| STK11 | Not detected | - | 4 (100.0) | |
| TP53 (1) | Detected | c.818G>A (p.Arg273His) | 5 (83.3) | |
| c.818G>A p.Arg273His | 1 (16.7) | |||
| TP53 (2) | Not detected | - | 6 (100.0) |
Bold lettering indicates results that are not compliant with the intended responses.
Abbreviation: NGS, next-generation sequencing.