Table 3 Somatic mutations identified using the two panels
Case | Specimen | Characteristics | Gene | Mutation | Selective hotspot panel, allelic fraction | Comprehensive panel, allelic fraction |
|---|---|---|---|---|---|---|
Case 1 | ESD | Early | MUC6 | F1843S | Not included | 28 % |
MUC6 | S1531P | Not included | 23 % | |||
PKHD1 | F83S | Not included | 11 % | |||
Case 2 | ESD | Early | ZIC4 | R107H | Not included | 21 % |
RASA1 | K825X | Not included | 21 % | |||
Case 3 | ESD | Early | MACF1 | L2900F | Not included | 11 % |
Case 4 | ESD | Early | APC | C207X | Not included | 34 % |
APC | Q1447X | 35 % | 31 % | |||
MUC6 | A1637Q | Not included | 16 % | |||
SYNE1 | D5070G | Not included | 13 % | |||
PKHD1 | Q3467K | Not included | 12 % | |||
MUC6 | L1836H | Not included | 10 % | |||
Case 5 | ESD | Early | SYNE1 | G474R | Not included | 83 % |
TP53 | G266V | 83 % | 65 % | |||
PKHD1 | R723C | Not included | 32 % | |||
FAM46D | S69C | Not included | 16 % | |||
Case 6 | ESD | Early | MUC6 | T2041M | Not included | 33 % |
SMAD2 | A278P | Not included | 17 % | |||
MACF1 | R3680K | Not included | 14 % | |||
Case 7 | ESD | Early | TP53 | D148fs | 67 % | 61 % |
Case 8 | ESD | Early | APC | L1564X | 42 % | 59 % |
SYNE1 | D903Y | Not included | 43 % | |||
APC | S940X | Not included | 42 % | |||
TMPRSS2 | L141V | Not included | 40 % | |||
AKAP13 | A2256V | Not included | 28 % | |||
MUC6 | T2041M | Not included | 25 % | |||
MUC6 | P1571T | Not included | 21 % | |||
Case 9 | ESD | Early | APC | Q1237fs | Not included | 38 % |
Case 10 | ESD | Early | TP53 | H193Y | 63 % | 52 % |
APC | S1068X | Not included | 42 % | |||
SMAD4 | G477X | Not included | 35 % | |||
KRAS | G13D | 38 % | 33 % | |||
RHOA | M1V | 13 % | 14 % | |||
APC | Q1517fs | 5 % | 14 % | |||
Case 11 | ESD | Early | ELF3 | D220N | Not included | 42 % |
SYNE1 | K874N | Not included | 40 % | |||
SMAD4 | R497H | 28 % | 39 % | |||
FAT4 | K225E | Not included | 35 % | |||
KMT2C | Y987H | Not included | 33 % | |||
ERBB2 | R897Q | Not included | 32 % | |||
SYNE1 | R7753H | Not included | 32 % | |||
MET | N381fs | 19 % | 13 % | |||
Case 12 | ESD | Early | APC | R876X | 38 % | 38 % |
MUC6 | T2041M | Not included | 28 % | |||
Case 13_site1a | ESD | Early | TP53 | R209fs | 70 % | 67 % |
ARHGAP5 | L297X | Not included | 31 % | |||
PKHD1 | I3786M | Not included | 12 % | |||
Case 13_site2a | ESD | Early | TP53 | E258D | Not included | 71 % |
MACF1 | D968A | Not included | 51 % | |||
Case 14 | ESD | Early | - | - | Not detected | Not detected |
Case 15 | ESD | Early | SYNE1 | R6836C | Not included | 51 % |
ACVR2A | R202fs | Not included | 39 % | |||
MUC6 | S2378fs | Not included | 38 % | |||
DLC1 | E854K | Not included | 17 % | |||
Case 16 | ESD | Early | ARID1A | K1072fs | 43 % | 51 % |
RASA1 | R512X | 44 % | 41 % | |||
TP53 | G154S | 35 % | 32 % | |||
RASA1 | D380E | 18 % | 19 % | |||
MUC6 | P1724S | Not included | 15 % | |||
ARHGAP5 | L259S | Not included | 10 % | |||
Case 17 | ESD | Early | CTNNB1 | S45F | 40 % | 32 % |
Case 18 | ESD | Early | TP53 | N200fs | 3 % | 16 % |
Case 19 | Biopsy | Early | TP53 | R175H | 15 % | 6 % |
APC | E262X | Not included | 12 % | |||
Case 20 | Biopsy | Advanced | TGFBR2 | S94R | Not included | 28 % |
CDH1 | Splice site | Not included | 28 % | |||
MACF1 | G5253E | Not included | 19 % | |||
TP53 | R248Q | 17 % | 16 % | |||
DNAH7 | Y2563N | Not included | 13 % | |||
DLC1 | W10L | Not included | 13 % | |||
CDH1 | Splice site (c.1009-2A>C) | 13 % | 8 % |