Table 2.
Summary of genes mutated in 2 or more case-matched tumour sites throughout disease course
| Case ID# | Gene | PT | syn M[HEP] 1 |
syn M[HEP] 2 |
syn M[PUL] 1 |
syn M[PUL] 2 |
met M[HEP] 1 |
met M[HEP] 2 |
met M[PUL] 1 |
met M[PUL] 2 |
met M[PUL] 3 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | KRAS | G12D | G12D | G12D | |||||||
| TP53 | R342* | WT | R342* | ||||||||
| 2 | APC | Q1338* | Q1338* | Q1338* | Q1338* | ||||||
| KRAS | G12V | G12V | G12V | G12V | |||||||
| SMAD4 | R361C | R361C | R361C | R361C | |||||||
| 3 | APC | WT | R1450* | R1450* | WT | R1450* | |||||
| R876* | R876* | R876* | R876* | R876* | |||||||
| KRAS | G12V | G12V | WT | G12V | G12V | ||||||
| PIK3CA | WT | K111E | WT | WT | K111E | ||||||
| TP53 | R196* | R196* | R196* | R196* | R196* | ||||||
| 4 | TP53 | R337C | R337C | R337C | R337C | ||||||
| G199V | G199V | G199V | G199V | ||||||||
| 5 | APC | P1319Lfs* | P1319Lfs* | P1319Lfs* | P1319Lfs* | ||||||
| KRAS | G12A | G12A (9.7 % AF) |
G12A | G12A | |||||||
| PIK3CA | E542K | E542K | E542K | E542K | |||||||
| TP53 | G244C | G244C | G244C | G244C | |||||||
| 6 | APC | Q1367* | WT | Q1367* | |||||||
| KRAS | G12V | WT | G12V | ||||||||
| SMAD4 | Q250* | WT | Q250* | ||||||||
| 7 | TP53 | V157F | V157F | V157F | V157F | V157F | |||||
| 8 | KRAS | G13D | G13D | G13D | G13D | ||||||
| TP53 | R248Q | R248Q | R248Q | R248Q | |||||||
| 9 | APC | R1114* | R1114* | R1114* | R1114* | R1114* | |||||
| TP53 | R282W | R282W | R282W | R282W | R282W | ||||||
| 10 | APC | T1556Nfs* | T1556Nfs* | T1556Nfs* | |||||||
| FGFR3 | P718S | P718H | P718S | ||||||||
| TP53 | V157G | V157G | V157G | ||||||||
| 11 | TP53 | R273C | R273C | R273C | R273C | ||||||
| 12 | APC | WT | L1488Tfs* | L1488Tfs* | L1488Tfs* | ||||||
| KRAS | G12A | G12A | G12A | G12A | |||||||
| 13 | ABL1 | WT | WT | P315S | P315S | ||||||
| APC | R876* | WT | R876* | WT | |||||||
| APC | E1284* | WT | E1284* | E1284* | |||||||
| ERBB4 | WT | WT | D300N | D300N | |||||||
| KRAS | G12D | p.G12V | G12V (5.6 % AF) | G12V | |||||||
| 14 | APC | T1430Pfs* | T1430Pfs* | T1430Pfs* | T1430Pfs* | ||||||
| NRAS | Q61R | Q61R | Q61R | Q61R | |||||||
| TP53 | R175H | R175H | R175H | R175H |
AF allele frequency