Table 1.
Overview of Missense Mutations in BRAFV600E Positive Samples at Baseline and at Progression Under BRAF Inhibitors
Patient | Mutations in baseline sample |
Mutations in resistant sample |
||||||||
---|---|---|---|---|---|---|---|---|---|---|
NCBI accession No. | Name | DNA change | Protein change | Variant allele frequency (%) | NCBI accession No. | Name | DNA change | Protein change | Variant allele frequency (%) | |
1 | NM_004333.4 | BRAF | c.1799T>A | p.V600E | — | NM_004333.4 | BRAF | c.1799T>A | p.V600E | — |
NM_004985.3 | KRAS | c.35G>T | p.G12V | |||||||
2 | NM_004333.4 | BRAFa | c.1799T>A | p.V600E | 26.4 | NM_004333.4 | BRAF | c.1799T>A | p.V600E | — |
NM_000546.5 | TP53a | c.524G>A | p.R175H | 22.3 | NM_000546.5 | TP53 | c.524G>A | p.R175H | — | |
NM_ 005228.4 | EGFRa | p.G322S | 1.6 | — | — | — | — | — | ||
NM_002524.4 | NRAS | c.181C>A | p.Q61K | — | ||||||
NM_005157.4 | ABL1 | c.740A>G | p.K247R | — | ||||||
3 | NM_004333.4 | BRAFa | c.1799T>A | p.V600E | 0.4 | NM_004333.4 | BRAF | c.1799T>A | p.V600E | — |
NM_000051.3 | ATM | c.5956A>G | p.I1986V | — | NM_000051.3 | ATM | c.5956A>G | p.I1986V | — | |
NM_021960.4 | MCL1 | c.1051dupT | Nonsense | — | — | — | — | — | — | |
NM_000546.5 | TP53a | p.R273H | 0.4 | NM_004985.3 | KRAS | c.35G>T | p.G12V | — | ||
NM_ 005228.4 | EGFRa | p.R776H | 0.2 | NM_001626.4 | AKT2 | c.49G>A | p.E17K | — | ||
NM_001012331.1 | NTRK1a | p.H571Y | 0.6 | NM_198253.2 | TERT (promoter) | c.-124C>T | — | — | ||
NM_004958.3 | MTORa | p.V169I | 0.3 | |||||||
4 | NM_004333.4 | BRAF | c.1799T>A | p.V600E | — | NM_004333.4 | BRAFa | c.1799T>A | p.V600E | 0.3 |
NM_002524.4 | NRASa | c.38G>A | p.G13D | 0.3 |
Indicates that the mutations were detected on liquid biopsy (cfDNA, Guardant 360).