Table 3.
Summary of recurrently mutated genes in only resistant or sensitive cases by whole-exome sequencing
| Gene Symbol | Case 1 (R) | Case 2 (R) | Case 3 (R) | Case 4 (S) | Case 5 (S) | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| Pre | Post | Pre | Post | Pre | Post | Pre | Post | Pre | Post | |
| Genes mutated in > 1 platinum-resistant cases only (16) | ||||||||||
| *ADGRV1/GPR98a | X | X | ||||||||
| *AOC1/ABP1a | X | X | Xe | |||||||
| ARHGAP5 | X | Xe | ||||||||
| *CSPG4a | X | X | X | |||||||
| KIR2DL1 | X | X | ||||||||
| KRTAP4-11 | X | Xe | ||||||||
| MMP9 | X | X | ||||||||
| *MTMR11c | X | X | Xd | |||||||
| MUC17c | X | Xe | ||||||||
| MUC20c | X | Xe | ||||||||
| *OR52N5c | X | X | X | |||||||
| PAK2c | X | Xe | ||||||||
| *PCDHB11c | X | X | Xe | |||||||
| *TMEM14Bc | X | X | X | |||||||
| TTN | X | X | ||||||||
| USP8 | X | X | ||||||||
| Genes mutated in > 1 platinum-sensitive cases only (5) | ||||||||||
| *CYP2D6b | X | X | ||||||||
| *DNAH5b | X | X | X | |||||||
| FAM186A | X | X | ||||||||
| MACF1 | X | X | ||||||||
| NUTM1b | X | X | ||||||||
Genes that were recurrently mutated in either resistant or sensitive cases (irrespective of time point) are shown. Whether a non-synonymous exonic mutation was detected in pre-NACT and/or post-NACT samples from each case is indicated by an “X”. Specific mutations are included in Additional File 3. *included on targeted panel; agene mutated in pre-NACT samples from > 1 resistant cases but not sensitive cases (CSPG4); bgene mutated in pre-NACT samples from both sensitive cases but not resistant cases (CYP2D6, NUTM1, DNAH5); cgene mutated in post-NACT samples from > 1 resistant cases but not sensitive cases (ADGRV1, AOC1, MTMR11, MUC17, MUC20, OR52N5, PAK2, PCDHB11, TMEM14B); dgene mutated in both omental and ovarian post-NACT samples from Case 3 (MTMR11); egene mutated in only 1 post-NACT sample from Case 3 (AOC1, ARHGAP5, KRTAP4-11, MUC17, MUC20, PAK2, PCDHB11)