Table 1. Sequencing results and description of healthy subjects included in the exhaled breath condensate (EBC) analysis.
| EBC sample | Age | Gender | Smoking status | Hotspot mutation | Novel mutation | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Position | Variant allele fraction (%) | Previously reported in tissue (COSMIC) | Number of mutations reported (COSMIC) | Gene | Position | Mutant allele fraction (%) | ||||
| 1 | 31 | M | Never | KRAS | p.G12V | 6.8 | Lung & various | 1412 in lung & 9091 total | ALK | p.G1263R | 8.4 |
| ALK | p.P1153S | 9.4 | |||||||||
| ERBB2 | p.K854R | 5.5 | |||||||||
| ERBB4 | p.R306H | 5.4 | |||||||||
| KRAS | p.D126N | 3.5 | |||||||||
| 2a* | 68 | M | Never | BRAF | p.R603L | 9.8 | |||||
| BRAF | p.E586* | 5.6 | |||||||||
| FGFR1 | p.A290V | 5.6 | |||||||||
| NRAS | p.S17G | 12 | |||||||||
| 2b* | 68 | M | Never | FGFR3 | p.H274Y | 7.3 | Various | 1 | DDR2 | p.F242S | 27.8 |
| CTNNB1 | p.T41A | 4.3 | Various | 979 | EGFR | p.N476D | 4.6 | ||||
| FGFR3 | p.S802R | 9.4 | |||||||||
| STK11 | p.D352E | 10.2 | |||||||||
| PTEN | p.D326N | 5.5 | |||||||||
| 3 | 49 | F | Never | KRAS | p.D30Y | 4.7 | Various | 1 | DDR2 | p.E779G | 9.9 |
| KRAS | p.T20M | 3.9 | Various | 3 | EGFR | p.L704S | 4.5 | ||||
| TP53 | p.G112S | 26.5 | Various | 2 | EGFR | p.L760F | 8.7 | ||||
| TP53 | p.I251T | 3.6 | Various | 3 | ERBB4 | p.F297L | 7.6 | ||||
| ERBB4 | p.M343V | 3.9 | |||||||||
| FGFR3 | p.K710E | 4.1 | |||||||||
| SMAD4 | p.T338A | 6.3 | |||||||||
| PIK3CA | p.A1020T | 3.8 | |||||||||
| PTEN | p.K267R | 11.5 | |||||||||
| 4 | 56 | F | Never | NRAS | p.D54G | 4.8 | Various | 1 | DDR2 | p.G104W | 15.9 |
| NRAS | p.A11T | 5.4 | Various | 3 | DDR2 | p.G108V | 88.5 | ||||
| DDR2 | p.F593C | 5.8 | |||||||||
| DDR2 | p.S598G | 10.7 | |||||||||
| DDR2 | p.E786D | 4.6 | |||||||||
| EGFR | p.N493S | 5.5 | |||||||||
| SMAD4 | p.H444R | 11.9 | |||||||||
| ERBB4 | p.F583L | 5.6 | |||||||||
| STK11 | p.P203Q | 22.7 | |||||||||
| 5 | 26 | F | Never | TP53 | p.P72R | 4.6 | Pleura. upper aerodigestive & various | 1 in pleura & 38 total | ALK | p.C1182Y | 51.7 |
| PIK3CA | p.A1027T | 13.1 | |||||||||
| ERBB2 | p.G865R | 33 | |||||||||
| 6 | 51 | F | ex-smoker | PIK3CA | p.M1043V | 17.8 | Lung & various | 1 in lung & 38 total | FGFR3 | p.Q256R | 6.5 |
| SMAD4 | p.V409A | 5.4 | |||||||||
| DDR2 | p.P116L | 5.6 | |||||||||
| CTNNB1 | p.M12V | 99 | |||||||||
| 7 | 48 | F | Never | MET | p.R359L | 6.3 | Various | 1 | MET | p.V177G | 4.1 |
| PTEN | p.F258L | 9.2 | Various | 1 | MET | p.G344E | 9.7 | ||||
| TP53 | p.S166P | 11.2 | Various | 5 | MET | p.D372N | 17.4 | ||||
| MET | p.C1109Y | 5.7 | |||||||||
| MET | p.V1255A | 5.6 | |||||||||
| MET | p.D358N | 9.8 | |||||||||
| MET | p.H1256Q | 9.1 | |||||||||
| KRAS | p.D54Y | 5.6 | |||||||||
| SMAD4 | p.T197A | 14.2 | |||||||||
| 8 | 25 | M | Never | … | … | … | … | … | … | … | … |
| 9 | 38 | F | Never | EGFR | p.D761N | 11.5 | Lung & various | 2 in lung & 5 total | ALK | p.N1175D | 11 |
| SMAD4 | p.S171L | 3.7 | Various | 1 | FGFR1 | p.R285Q | 12.9 | ||||
| TP53 | p.Q104* | 20.3 | Lung & various | 4 in lung & 24 total | PTEN | p.L181Q | 4.7 | ||||
| AKT1 | p.Y26C | 5.3 | |||||||||
| SMAD4 | p.Y117C | 4.5 | |||||||||
| PIK3CA | p.C695R | 9.6 | |||||||||
| EGFR | p.I490V | 6.7 | |||||||||
| ERBB2 | p.S792P | 4 | |||||||||
| STK11 | p.A206V | 4.7 | |||||||||
| 10 | 27 | F | Never | … | … | … | … | … | DDR2 | p.C784R | 4.4 |
| ALK | p.I1194F | 3.8 | |||||||||
| EGFR | p.P794L | 7.3 | |||||||||
| KRAS | p.T20A | 4.1 | |||||||||
| FGFR3 | p.S402I | 4.3 | |||||||||
| SMAD4 | p.N188S | 4.7 | |||||||||
| 11 | 28 | F | ex-smoker | TP53 | p.Y163* | 11.0 | upper aerodigestive & various | 5 | ERBB4 | p.D245G | 6 |
| TP53 | p.F134L | 5.5 | Various | 29 | FGFR1 | p.N180S | 7.9 | ||||
| 12 | 21 | M | ex-smoker | KRAS | p.A11V | 5.5 | Lung & various | 1 in lung & 3 total | EGFR | p.Y764D | 14.2 |
| SMAD4 | p.F408S | 9.6 | Various | 1 | PTEN | p.V249A | 4.5 | ||||
| KRAS | p.L53F | 16 | |||||||||
| DDR2 | p.H110R | 8.4 | |||||||||
| CTNNB1 | p.D17G | 10 | |||||||||
| MET | p.F374L | 6.6 | |||||||||
| SMAD4 | p.N468S | 4.5 | |||||||||
| 13 | 27 | M | Never | CTNNB1 | p.D32Y | 10.6 | Various | 187 | NRAS | p.L52S | 8.3 |
| ERBB4 | p.V590A | 5.1 | |||||||||
| FGFR3 | p.F706S | 4.7 | |||||||||
| FGFR3 | p.S783I | 21.7 | |||||||||
| SMAD4 | p.V397A | 8 | |||||||||
| 14 | 25 | F | Never | … | … | … | … | … | FBXW7 | p.T570A | 9.1 |
| 15 | 31 | M | Never | SMAD4 | p.A452T | 56.1 | Various | 1 | DDR2 | p.A107V | 6.1 |
| NOTCH1 | p.V1578delV | 4.2 | Various | 20 | ALK | p.L1187P | 9.5 | ||||
| NRAS | p.G60E | 25.2 | Various | 7 | PIK3CA | p.L540P | 6.2 | ||||
| PTEN | p.L57S | 100 | Various | 2 | MET | p.V1110A | 14.1 | ||||
| ERBB2 | p.F864S | 6.3 | |||||||||
| MET | p.V1007I | 12.9 | |||||||||
| 16 | 33 | M | Never | TP53 | p.R337C | 26.6 | Various | 41 | NRAS | p.F28S | 23.7 |
| TP53 | p.N345D | 24.2 | Various | 1 | DDR2 | p.D661N | 11.9 | ||||
| ALK | p.D1203G | 4.3 | |||||||||
| ERBB4 | p.N269D | 3.9 | |||||||||
| PIK3CA | p.N1068S | 3.4 | |||||||||
| FBXW7 | p.I435V | 4 | |||||||||
| 17 | 34 | M | Never | MET | p.S349G | 6.5 | Various | 1 | FGFR2 | p.L390S | 9.8 |
| DDR2 | p.R105C | 16.7 | Various | 1 | AKT1 | p.R25H | 6.8 | ||||
| TP53 | p.M169I | 9.2 | Lung & various | 1 in lung & 9 total | DDR2 | p.H246Y | 8 | ||||
| PTEN | p.K237E | 11.2 | |||||||||
| SMAD4 | p.P185L | 9.5 | |||||||||
| STK11 | p.D355G | 4.1 | |||||||||
| 18 | 46 | F | ex-smoker | BRAF | p.K601E | 12.1 | Lung & various | 3 in lung & 146 total | FGFR2 | p.C555Y | 6.4 |
| ERBB2 | p.V773M | 49.0 | Various | 1 | MAP2K1 | p.L50H | 9 | ||||
| FBXW7 | p.R278* | 19.2 | Various | 24 | SMAD4 | p.H184R | 14.3 | ||||
| SMAD4 | p.P470S | 5.1 | |||||||||
| SMAD4 | p.N316S | 42.1 | |||||||||
| MET | p.S187G | 4.6 | |||||||||
| ERBB4 | p.A345T | 29 | |||||||||
| FGFR3 | p.G372S | 6.5 | |||||||||
| 19 | 38 | M | Never | … | … | … | … | … | … | … | … |
| 20 | 32 | M | Current smoker | TP53 | p.S269N | 7.0 | Various | 5 | AKT1 | p.F27V | 8.1 |
| AKT1 | p.L28F | 4.3 | |||||||||
*
Two different specimens from the same individual with one month interval.