Table 2.
Mutation in therapy related target genes detected in the patient
| Gene | Position | Original AA | Alteration | VAF (%) |
|---|---|---|---|---|
| EGFR*,_ | 511 | Ser | Tyr | 52.40 |
| EML4* | 398 | Lys | Arg | 50 |
| ERBB2*,_ | 8 | Pro | Thr | 54.50 |
| CSF3R° | 835 | Glu | Lys | 64.20 |
| EGFR°,_ | 511 | Ser | Tyr | 52.40 |
| EPHB2° | 750 | Arg | Cys | 42.60 |
| ERBB2°,_ | 8 | Pro | Thr | 54.50 |
| FLT4° | 1146 | Arg | His | 30.60 |
| PIK3CB° | 475 | Pro | Ser | 50.50 |
| POLD1° | 875 | Arg | His | 49.50 |
| FLT4 | 1146 | Arg | His | 30.60 |
| PIK3CB | 475 | Pro | Ser | 50.50 |
| POLD1 | 875 | Arg | His | 49.50 |
| AR | 473 | Gly | duplication | 96.30 |
| ATM | 1853 | Asp | Asn | 46.40 |
| ATRX | 929 | Glu | Gln | 100 |
| ATXN7 | 264 | Lys | Arg | 69.30 |
| BRCA2 | 372 | Asn | His | 100 |
| CASP8 | 344 | Asp | His | 46 |
| CRLF2 | 323 | Ser | Phe | 45.90 |
| CYSLTR2 | 201 | Met | Val | 51.50 |
| ERCC2 | 312 | Asp | Asn | 48.60 |
| ETV1 | 100 | Ser | Gly | 46.20 |
| FCGR2A | 63 | Gln | Trp | 51.50 |
| FOXP1 | 202 | Gln | His | 36.20 |
| GSTP1 | 105 | Ile | Val | 100 |
| HLA-C | 327 | Val | Met | 51.20 |
| IL7R | 244 | Thr | Ile | 45.10 |
| IRS2 | 1057 | Gly | Asp | 45.90 |
| JARID2 | 492 | Arg | Cys | 52.40 |
| KMT2A | 30 | Ala | Gly | 45.70 |
| MSH3 | 60–62 | - | deletion | 40.20 |
| MYC | 79 | Gly | Cys | 52.10 |
| NOTCH3 | 817 | Pro | Leu | 55.10 |
| NRG1 | 286 | Met | Thr | 51.70 |
| PARP1 | 123 | Lys | Arg | 52.10 |
| PBRM1 | 1584 | Pro | frameshift | 10.30 |
| PRKAR1A | 333 | Ser | Asn | 58.50 |
| PTCH1 | 1164 | Pro | Leu | 46 |
| RAD23B | 249 | Ala | Val | 47.70 |
| SERPINB3 | 357 | Thr | Ala | 55.10 |
| TET2 | 1783 | Ile | Val | 46.10 |
| TP53 | 384 | Ile | Phe | 42.20 |
| VHL | 148 | Phe | frameshift | 34.80 |
| WWTR1 | 74 | Pro | Gln | 47 |
| MSH5 | missense |
° Somatic mutations detected in the patient by whole genome sequencing. * Off-label ° Therapy targeting gene is in clinical trials. _: Therapy targeting gene is FDA approved in another disease, but it is also in clinical trials in the patients’ disease. * Off-label = Therapy targeting gene is FDA approved only in another disease. VAF Variant allele frequency