Table 1.
Melanoma driver gene variants detected by Whole-Exome Sequencing (WES) in common between pre-therapy and post-therapy melanoma lesions.
| Patient ID | BRAF V600 Status | R | Gene | Ref seq | aa Change | Codon Change | AF % |
|---|---|---|---|---|---|---|---|
| #1 | + | n | RAC1 * | NM_018890.4 | p.Pro29Ser | c.85C>T | 4.2 to 13.8 |
| GNAQ * | NM_002072.5 | p.Thr96Ser | c.286A>T | 3.0 to 66.7 | |||
| #62 | + | n | ARID2 * | NM_152641.4 | p.Gln1313 * | c.3937C>T | 27.1 to 7.0 |
| #20 | − | y | NRAS * | NM_002524.3 | p.Gln61Arg | c.182A>G | 6.5 to 42.0 |
| HRAS | NM_005343.4 | p.Pro140Thr | c.418C>A | 20.4 to 41.2 | |||
| #21 | − | y | NRAS * | NM_002524.3 | p.Gln61Arg | c.182A>G | 25.0 to 50.0 |
| NF1 * | NM_001042492.3 | p.Ser2093Phe | c.6278C>T | 30.0 to 45.2 | |||
| PPP6C * | NM_001123355.1 | p.Arg301Cys | c.901C>T | 56.4 to 96.6 | |||
| CTNNB1 * | NM_001098209.2 | p.Ser45Pro | c.133T>C | 27.8 to 49.3 | |||
| #7 | − | y | IDH1 * | NM_005896.3 | p.Arg132Cys | c.394C>T | 37.5 to 23.0 |
| MAP2K2 ** | NM_030662.3 | p.Leu102_Ile107del | c.304_321delCTGATC CACCTTGAGATC |
65.8 to 45.1 | |||
| #63 | − | n | NRAS * | NM_002524.3 | p.Gln61Lys | c.181C>A | 69.8 to 74.0 |
| FBXW7 ** | NM_001349798.2 | p.Lys652 * | c.1954A>T | 64.2 to 71.4 | |||
| #18 | − | n | KIT * | NM_000222.2 | p.Leu576Pro | c.1727T>C | 88.8 to 86.4 |
| TP53 | NM_000546.5 | p.Pro27Ser | c.79C>T | 48.8 to 52.2 | |||
| RAC1 * | NM_018890.4 | p.Pro29Ser | c.85C>T | 13.1 to 36.0 | |||
| GNAQ | NM_002072.5 | p.Gly64Arg | c.190G>A | 10.3 to 15.5 | |||
| #57 | − | n | BRAF * | NM_001374258.1 | p.Leu624Phe | c.1870C>T | 29.2 to 60.8 |
| BRAF * | NM_001374258.1 | p.Gly509Ala | c.1526G>C | 32.8 to 58.7 | |||
| KIT * | NM_000222.2 | p.Lys642Glu | c.1924A>G | 20.7 to 47.9 |
Abbreviations: R: Response; no: no; y: yes; *: Pathogenic Mutations; **: Potentially pathogenic mutations; AF: Allele Frequency.