Table 3. Recurrently mutated genes in tumors from patients who progressed under afatinib.
| GENE | PATIENT | CHROM | POS | REF | ALT | AA CHANGE | CADD score |
|---|---|---|---|---|---|---|---|
| HLA-DRB1 | #2 | 6 | 32552130 | C | A | R42S | 0.145 |
| 32552131 | C | G | R42T | 0.005 | |||
| #6 | 32552134 | T | G | K41T | 10.93 | ||
| #3 | 32552130 | C | A | R42S | 0.145 | ||
| 32552132 | T | A | R42W | 10.52 | |||
| #4 | 32548544 | T | G | I248L | 16.04 | ||
| #7 | 32552130 | C | A | R42S | 0.145 | ||
| 32552131 | C | G | R42T | 0.005 | |||
| 32552137 | G | C | P40R | 0 | |||
| 32552138 | G | C | P40A | 0.005 | |||
| 32552143 | C | T | W38* | 13.84 | |||
| 32552144 | A | C | W38G | 3.518 | |||
| AQP7 | #2 | 9 | 33385808 | G | T | N194K | 15.08 |
| #5 | 33385709 | C | T | V96I | 9.787 | ||
| 33385712 | G | A | P95S | 10.22 | |||
| 33385690 | C | T | R234S | 14.5 | |||
| 33385698 | A | G | L231P | 16.61 | |||
| #1 | 33385712 | G | A | P95S | 10.22 | ||
| #4 | 33395131 | TG | T | Q30 | NA | ||
| FAM198A | #2 | 3 | 43074734 | C | A | P327T | 9.704 |
| #6 | 43074337 | G | T | W194C | 14.09 | ||
| SEC31A | #5 | 4 | 83803067 | C | T | R8H | 27.8 |
| #6 | 83784534 | CT | C | E482 | NA | ||
| CNTLN | #2 | 9 | 17366624 | TGAA | T | E633 | NA |
| #5 | 17236574 | TG | T | A280 | NA | ||
| 17236576 | C | A | A280E | 5.077 | |||
| ESX1 | #2 | X | 103497493 | G | C | R175G | 11.68 |
| #6 | 103498982 | C | A | G120V | 14.79 |
Tumor samples were from 3 patients (#2, #5 and #6) with WES data of normal, primary and resistant tumors and from patients with samples from resistant tumors only.
chrom, chromosome; pos, basepair location; ref/alt, reference and altered nucleotides at mutated position; AA change, amino acid change; CADD, Combined Annotation Dependent Depletion score; CADD score ≥10 indicates a position within the top 10% most deleterious mutations. A score of ≥20 indicates a position within the top 1% most deleterious mutations.