Results of NGS-based liquid biopsy in 2020
Trials | Gene | Variant | Description | No. of labs (%) |
---|---|---|---|---|
1st GNL-20-01 | BRAF | Detected | NM_004333.4(BRAF):c.1799T>A (p.Val600Glu) | 2 (50.0) |
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) | 1 (25.0) | |||
c.1799T>A, p.Val600Glu | 1 (25.0) | |||
EGFR (1) | Detected | NM_005228.3(EGFR):c.2235_2249del (p.Glu746_Ala750del) | 1 (25.0) | |
NM_005228.5(EGFR):c.2235_2249del15 (p.Glu746_Ala750del) | 1 (25.0) | |||
NM_005228.5(EGFR):c.2235_2249delGGAATTAAGAGAAGC (p.Glu746_Ala750del) | 1 (25.0) | |||
c.2235_2249del, p.Glu746_Ala750del | 1 (25.0) | |||
EGFR (2) | Detected | c.2300_2308dup, p.Ala767_Val769dup | 1 (25.0) | |
NM_005228.3(EGFR):c.2300_2308dup (p.Ala767_Val769dup) | 1 (25.0) | |||
NM_005228.5(EGFR):c.2300_2308dup (p.Ala767_Val769dup) | 1 (25.0) | |||
NM_005228.5(EGFR):c.2300_2308dupTGGCCAGCG (p.Ala767_Val769dup) | 1 (25.0) | |||
EGFR (3) | Detected | NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) | 2 (50.0) | |
NM_005228.3(EGFR):c.2369C>T (p.Thr790Met) | 1 (25.0) | |||
c.2369C>T, p.Thr790Met | 1 (25.0) | |||
EGFR (4) | Detected | NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) | 2 (50.0) | |
NM_005228.3(EGFR):c.2573T>G (p.Leu858Arg) | 1 (25.0) | |||
c.2573T>G, p.Leu858Arg | 1 (25.0) | |||
KRAS | Detected | NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) | 2 (50.0) | |
NM_004985.3(KRAS):c.35G>A (p.Gly12Asp) | 1 (25.0) | |||
c.35G>A, p.Gly12Asp | 1 (25.0) | |||
NRAS (1) | Detected | NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) | 2 (50.0) | |
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) | 1 (25.0) | |||
c.181C>A, p.Gln61Lys | 1 (25.0) | |||
NRAS (2) | Detected | NM_002524.5(NRAS):c.175G>A (p.Ala59Thr) | 2 (50.0) | |
NM_002524.4(NRAS): c.175G>A (p.Ala59Thr) | 1 (25.0) | |||
c.175G>A, p.Ala59Thr | 1 (25.0) | |||
PIK3CA | Detected | NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) | 1 (25.0) | |
NM_006218.2(PIK3CA):c.1633G>A (p.Glu545Lys) | 1 (25.0) | |||
c.1633G>A, p.Glu545Lys | 1 (25.0) | |||
Not detected | - | 1 (25.0) | ||
1st GNL-20-02 | BRAF | Detected | NM_004333.4(BRAF):c.1799T>A (p.Val600Glu) | 2 (50.0) |
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) | 1 (25.0) | |||
c.1799T>A, p.Val600Glu | 1 (25.0) | |||
EGFR (1) | Detected | NM_005228.3(EGFR):c.2235_2249del (p.Glu746_Ala750del) | 1 (25.0) | |
NM_005228.5(EGFR):c.2235_2249del15 (p.Glu746_Ala750del) | 1 (25.0) | |||
Not detected | - | 2 (50.0) | ||
EGFR (2) | Not detected | - | 4 (100.0) | |
EGFR (3) | Detected | NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) | 1 (25.0) | |
NM_005228.3(EGFR):c.2369C>T (p.Thr790Met) | 1 (25.0) | |||
c.2369C>T, p.Thr790Met | 1 (25.0) | |||
Not detected | - | 1 (25.0) | ||
EGFR (4) | Detected | c.2573T>G, p.Leu858Arg | 1 (25.0) | |
Not detected | - | 3 (75.0) | ||
KRAS | Detected | NM_004985.3(KRAS):c.35G>A (p.Gly12Asp) | 1 (25.0) | |
35G>A, p.Gly12Asp | 1 (25.0) | |||
Not detected | - | 2 (50.0) | ||
NRAS (1) | Detected | NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) | 1 (25.0) | |
c.181C>A, p.Gln61Lys | 1 (25.0) | |||
Not detected | - | 2 (50.0) | ||
NRAS (2) | Detected | NM_002524.4(NRAS): c.175G>A (p.Ala59Thr) | 1 (25.0) | |
Not detected | - | 3 (75.0) | ||
PIK3CA | Detected | NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) | 1 (25.0) | |
Not detected | - | 3 (75.0) | ||
2nd GNL-20-03 | BRAF | Not detected | - | 4 (100.0) |
EGFR (1) | Detected | NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) | 2 (50.0) | |
NM_005228.5(EGFR):c.2235_2249del15 (p.Glu746_Ala750del) | 1 (25.0) | |||
NM_005228.5(EGFR):c.2235_2249delGGAATTAAGAGAAGC (p.Glu746_Ala750del) | 1 (25.0) | |||
EGFR (2) | Not detected | - | 4 (100.0) | |
EGFR (3) | Detected | NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) | 4 (100.0) | |
KRAS | Detected | NM_004985.5(KRAS):c.34G>T (p.Gly12Cys) | 4 (100.0) | |
PIK3CA | Not detected | - | 4 (100.0) | |
TP53 (1) | Not detected | - | 4 (100.0) | |
TP53 (2) | Detected | NM_000546.5(TP53):c.743G>A (p.Arg248Gln) | 3 (75.0) | |
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) | 1 (25.0) | |||
TP53 (3) | Not detected | - | 4 (100.0) | |
TP53 (4) | Detected | NM_000546.5(TP53):c.560-1G>A | 2 (50.0) | |
NM_000546.5(TP53):c.560-1G>A (p.?) | 1 (25.0) | |||
NM_000546.5(TP53):c.560-1G>C | 1 (25.0) | |||
2nd GNL-20-04 | BRAF | Detected | NM_004333.4(BRAF):c.1799T>A (p.Val600Glu) | 3 (75.0) |
NM_004333.4(BRAF):c.1799T>A, (p.Val600Glu) | 1 (25.0) | |||
EGFR (1) | Detected | NM_005228.5(EGFR):c.2236_2250del (p.Glu746_Ala750del) | 2 (50.0) | |
NM_005228.5(EGFR):c.2236_2250del15 (p.Glu746_Ala750del) | 1 (25.0) | |||
NM_005228.5(EGFR):c.2236_2250delGAATTAAGAGAAGCA (p.Glu746_Ala750del) | 1 (25.0) | |||
EGFR (2) | Detected | NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) | 4 (100.0) | |
EGFR (3) | Detected | NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) | 3 (75.0) | |
NM_005228.5(EGFR)c.2573T>G (p.Leu858Arg) | 1 (25.0) | |||
KRAS | Not detected | - | 4 (100.0) | |
PIK3CA | Detected | NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) | 4 (100.0) | |
TP53 (1) | Detected | NM_000546.5(TP53):c.818G>A (p.Arg273His) | 4 (100.0) | |
TP53 (2) | Not detected | - | 4 (100.0) | |
TP53 (3) | Detected | NM_000546.5(TP53):c.742C>G (p.Arg248Gly) | 4 (100.0) | |
TP53 (4) | Not detected | - | 4 (100.0) |
Bold lettering indicates results that are not compliant with the intended responses.
Abbreviation: NGS, next-generation sequencing.