Results of NGS-based liquid biopsy in 2023
Trials | Gene | Variant | Description | No. of labs (%) |
---|---|---|---|---|
1st GNL-23-01 | APC (1) | Detected | c.2557G>T (p.Glu853*) | 4 (44.4) |
c.2557G>T (p.Glu853Ter) | 4 (44.4) | |||
c.2557G>T(p.Glu853Ter) | 1 (11.1) | |||
APC (2) | Detected | c.5947G>T (p.Glu1983*) | 4 (44.4) | |
c.5947G>T (p.Glu1983Ter) | 4 (44.4) | |||
c.5947G>T(p.Glu1983Ter) | 1 (11.1) | |||
BRAF | Detected | c.1799T>A (p.Val600Glu) | 10 (83.3) | |
c.1799T>A(p.Val600Glu) | 1 (8.3) | |||
c.1799T>A (p.V600E) | 1 (8.3) | |||
CDKN2A (1) | Not detected | - | 9 (100.0) | |
CDKN2A (2) | Not detected | - | 9 (100.0) | |
CTNNB1 | Not detected | - | 9 (100.0) | |
EGFR (1) | Detected | c.2236_2250del (p.Glu746_Ala750del) | 10 (83.3) | |
c.2236_2250del(p.Glu746_Ala750del) | 1 (8.3) | |||
c.2236_2250delGAATTAAGAGAAGCA (p.E746_A750del) | 1 (8.3) | |||
EGFR (2) | Not detected | - | 12 (100.0) | |
EGFR (3) | Detected | c.2573T>G (p.Leu858Arg) | 10 (83.3) | |
c.2573T>G(p.Leu858Arg) | 1 (8.3) | |||
c.2573T>G (p.L858R) | 1 (8.3) | |||
FGFR1 | Not detected | - | 9 (100.0) | |
FGFR3 | Not detected | - | 9 (100.0) | |
FLT3 | Detected | c.969C>A (p.Asn323Lys) | 8 (88.9) | |
c.969C>A(p.Asn323Lys) | 1 (11.1) | |||
KIT | Not detected | - | 9 (100.0) | |
KRAS | Detected | c.34G>A (p.Gly12Ser) | 10 (83.3) | |
c.34G>A(p.Gly12Ser) | 1 (8.3) | |||
c.34G>A (p.G12S) | 1 (8.3) | |||
MLH1 | Not detected | - | 9 (100.0) | |
MSH2 | Detected | c.1168C>T (p.Leu390Phe) | 7 (87.5) | |
c.1168C>T(p.Leu390Phe) | 1 (12.5) | |||
NF2 | Detected | c.385G>T (p.Glu129*) | 4 (44.4) | |
c.385G>T (p.Glu129Ter) | 4 (44.4) | |||
c.385G>T(p.Glu129Ter) | 1 (11.1) | |||
PALB2 | Detected | c.1676A>G (p.Gln559Arg) | 7 (87.5) | |
c.1676A>G(p.Gln559Arg) | 1 (12.5) | |||
Not detected | - | 1 (11.1) | ||
PIK3CA (1) | Not detected | - | 12 (100.0) | |
PIK3CA (2) | Detected | c.1345C>A (p.Pro449Thr) | 10 (90.9) | |
c.1345C>A(p.Pro449Thr) | 1 (9.1) | |||
STK11 (1) | Detected | c.109C>T (p.Gln37*) | 4 (44.4) | |
c.109C>T (p.Gln37Ter) | 4 (44.4) | |||
c.109C>T(p.Gln37Ter) | 1 (11.1) | |||
STK11 (2) | Detected | c.647C>T (p.Ser216Phe) | 8 (88.9) | |
c.647C>T(p.Ser216Phe) | 1 (11.1) | |||
TP53 (1) | Detected | c.818G>A (p.Arg273His) | 10 (83.3) | |
c.818G>A(p.Arg273His) | 1 (8.3) | |||
c.818G>A (p.R273H) | 1 (8.3) | |||
TP53 (2) | Not detected | - | 12 (100.0) | |
TP53 (3) | Detected | c.742C>G (p.Arg248Gly) | 10 (83.3) | |
c.742C>G(p.Arg248Gly) | 1 (8.3) | |||
c.742C>G (p.R248G) | 1 (8.3) | |||
TP53 (4) | Detected | c.560-1G>A (p.?) | 8 (66.7) | |
c.560-1G>A | 3 (25.0) | |||
c.560-1G>A(p.?) | 1 (8.3) | |||
1st GNL-23-02 | APC (1) | Not detected | - | 9 (100.0) |
APC (2) | Not detected | - | 9 (100.0) | |
BRAF | Not detected | - | 12 (100.0) | |
CDKN2A (1) | Detected | c.205G>T (p.Glu69*) | 4 (44.4) | |
c.205G>T (p.Glu69Ter) | 4 (44.4) | |||
c.205G>T(p.Glu69Ter) | 1 (11.1) | |||
CDKN2A (2) | Detected | c.200G>T (p.Gly67Val) | 8 (88.9) | |
c.200G>T(p.Gly67Val) | 1 (11.1) | |||
CTNNB1 | Detected | c.223A>G (p.Thr75Ala) | 8 (88.9) | |
c.223A>G(p.Thr75Ala) | 1 (11.1) | |||
EGFR (1) | Detected | c.2235_2249del (p.Glu746_Ala750del) | 10 (83.3) | |
c.2235_2249del(p.Glu746_Ala750del) | 1 (8.3) | |||
c.2235_2249delGGAATTAAGAGAAGC (p.E746_A750del) | 1 (8.3) | |||
EGFR (2) | Detected | c.2369C>T (p.Thr790Met) | 10 (83.3) | |
c.2369C>T(p.Thr790Met) | 1 (8.3) | |||
c.2573T>G (p.Leu858Arg) | 10 (83.3) | |||
EGFR (3) | Detected | c.2573T>G(p.Leu858Arg) | 1 (8.3) | |
c.2369C>T (p.T790M) | 1 (8.3) | |||
c.2573T>G (p.L858R) | 1 (8.3) | |||
FGFR1 | Detected | c.626G>A (p.Arg209His) | 7 (77.8) | |
c.626G>A(p.Arg209His) | 1 (11.1) | |||
c.719G>A (p.Arg240His) | 1 (11.1) | |||
FGFR3 | Detected | c.101G>A (p.Arg34Gln) | 8 (88.9) | |
c.101G>A(p.Arg34Gln) | 1 (11.1) | |||
FLT3 | Not detected | - | 9 (100.0) | |
KIT | Detected | c.878A>G (p.Asn293Ser) | 7 (87.5) | |
c.878A>G(p.Asn293Ser) | 1 (12.5) | |||
KRAS | Detected | c.34G>T (p.Gly12Cys) | 10 (83.3) | |
c.34G>T(p.Gly12Cys) | 1 (8.3) | |||
c.34G>T (p.G12C) | 1 (8.3) | |||
MLH1 | Detected | c.311del (p.Leu104TrpfsTer4) | 5 (55.6) | |
c.311del (p.Leu104Trpfs*4) | 3 (33.3) | |||
c.311del(p.Leu104TrpfsTer4) | 1 (11.1) | |||
MSH2 | Not detected | - | 9 (100.0) | |
NF2 | Not detected | - | 9 (100.0) | |
PALB2 | Detected | c.1676A>G (p.Gln559Arg) | 7 (87.5) | |
c.1676A>G(p.Gln559Arg) | 1 (12.5) | |||
Not detected | - | 1 (11.1) | ||
PIK3CA (1) | Detected | c.353G>A (p.Gly118Asp) | 10 (83.3) | |
c.353G>A(p.Gly118Asp) | 1 (8.3) | |||
c.353G>A (p.G118D) | 1 (8.3) | |||
PIK3CA (2) | Not detected | - | 11 (100.0) | |
STK11 (1) | Not detected | - | 9 (100.0) | |
STK11 (2) | Not detected | - | 9 (100.0) | |
TP53 (1) | Detected | c.818G>A (p.Arg273His) | 10 (83.3) | |
c.818G>A(p.Arg273His) | 1 (8.3) | |||
c.818G>A (p.R273H) | 1 (8.3) | |||
TP53 (2) | Detected | c.743G>A (p.Arg248Gln) | 10 (83.3) | |
c.743G>A(p.Arg248Gln) | 1 (8.3) | |||
c.743G>A (p.R248Q) | 1 (8.3) | |||
TP53 (3) | Not detected | - | 12 (100.0) | |
TP53 (4) | Not detected | - | 12 (100.0) | |
2nd GNL-23-03 | APC | Detected | c.5947G>T (p.Glu1983Ter) | 6 (66.7) |
c.5947G>T (p.Glu1983*) | 3 (33.3) | |||
BRAF | Detected | c.1799T>A (p.Val600Glu) | 10 (90.9) | |
c.1799T>A (p.V600E) | 1 (9.1) | |||
CDKN2A (1) | Not detected | - | 9 (100.0) | |
CDKN2A (2) | Not detected | - | 9 (100.0) | |
EGFR (1) | Detected | c.2236_2250del (p.Glu746_Ala750del) | 10 (90.9) | |
c.2236_2250delGAATTAAGAGAAGCA (p.E746_A750del) | 1 (9.1) | |||
EGFR (2) | Not detected | - | 11 (100.0) | |
EGFR (3) | Not detected | - | 11 (100.0) | |
FLT3 | Detected | c.969C>A (p.Asn323Lys) | 8 (88.9) | |
Not detected | - | 1 (11.1) | ||
KIT | Not detected | - | 9 (100.0) | |
KRAS | Detected | c.34G>A (p.Gly12Ser) | 10 (90.9) | |
c.34G>A (p.G12S) | 1 (9.1) | |||
MLH1 | Not detected | - | 9 (100.0) | |
MSH2 (1) | Detected | c.1168C>T (p.Leu390Phe) | 9 (100.0) | |
MSH2 (2) | Detected | c.1786_1799delinsT (p.Asn596PhefsTer3) | 6 (66.7) | |
c.1786_1799delinsT (p.Asn596Phefs*3) | 2 (22.2) | |||
Not detected | - | 1 (11.1) | ||
NF2 | Detected | c.385G>T (p.Glu129Ter) | 6 (66.7) | |
c.385G>T (p.Glu129*) | 3 (33.3) | |||
NRAS (1) | Not detected | - | 11 (100.0) | |
NRAS (2) | Detected | c.181C>A (p.Gln61Lys) | 10 (90.9) | |
c.181C>A (p.Q61K) | 1 (9.1) | |||
PALB2 | Detected | c.1676A>G (p.Gln559Arg) | 9 (100.0) | |
PIK3CA | Not detected | - | 11 (100.0) | |
STK11 (1) | Detected | c.109C>T (p.Gln37Ter) | 6 (66.7) | |
c.109C>T (p.Gln37*) | 3 (33.3) | |||
STK11 (2) | Detected | c.647C>T (p.Ser216Phe) | 9 (100.0) | |
TP53 (1) | Not detected | - | 11 (100.0) | |
TP53 (2) | Not detected | - | 11 (100.0) | |
TP53 (3) | Detected | c.742C>G (p.Arg248Gly) | 10 (90.9) | |
c.742C>G (p.R248G) | 1 (9.1) | |||
TP53 (4) | Not detected | - | 9 (100.0) | |
2nd GNL-23-04 | APC | Not detected | - | 9 (100.0) |
BRAF | Not detected | - | 11 (100.0) | |
CDKN2A (1) | Detected | c.205G>T (p.Glu69Ter) | 6 (66.7) | |
c.205G>T (p.Glu69*) | 3 (33.3) | |||
CDKN2A (2) | Detected | c.200G>T (p.Gly67Val) | 9 (100.0) | |
EGFR (1) | Detected | c.2235_2249del (p.Glu746_Ala750del) | 10 (90.9) | |
c.2235_2249delGGAATTAAGAGAAGC (p.E746_A750del) | 1 (9.1) | |||
EGFR (2) | Detected | c.2369C>T (p.Thr790Met) | 10 (90.9) | |
c.2369C>T (p.T790M) | 1 (9.1) | |||
EGFR (3) | Detected | c.2573T>G (p.Leu858Arg) | 10 (90.9) | |
c.2573T>G (p.L858R) | 1 (9.1) | |||
FLT3 | Not detected | - | 9 (100.0) | |
KIT | Detected | c.878A>G (p.Asn293Ser) | 9 (100.0) | |
KRAS | Not detected | - | 11 (100.0) | |
MLH1 | Detected | c.311del (p.Leu104TrpfsTer4) | 6 (66.7) | |
c.311del (p.Leu104Trpfs*4) | 3 (33.3) | |||
MSH2 (1) | Not detected | - | 9 (100.0) | |
MSH2 (2) | Not detected | - | 9 (100.0) | |
NF2 | Not detected | - | 9 (100.0) | |
NRAS (1) | Detected | c.182A>G (p.Gln61Arg) | 10 (90.9) | |
c.182A>G (p.Q61R) | 1 (9.1) | |||
NRAS (2) | Not detected | - | 11 (100.0) | |
PALB2 | Detected | c.1676A>G (p.Gln559Arg) | 9 (100.0) | |
PIK3CA | Detected | c.353G>A (p.Gly118Asp) | 10 (90.9) | |
c.353G>A (p.G118D) | 1 (9.1) | |||
STK11 (1) | Not detected | - | 9 (100.0) | |
STK11 (2) | Not detected | - | 9 (100.0) | |
TP53 (1) | Detected | c.818G>A (p.Arg273His) | 10 (90.9) | |
c.818G>A (p.R273H) | 1 (9.1) | |||
TP53 (2) | Detected | c.743G>A (p.Arg248Gln) | 10 (90.9) | |
743G>A (p.R248Q) | 1 (9.1) | |||
TP53 (3) | Not detected | - | 11 (100.0) | |
TP53 (4) | Detected | c.375G>A (p.Thr125=) | 9 (100.0) |
Bold lettering indicates results that are not compliant with the intended responses.
Abbreviation: NGS, next-generation sequencing.