KRAS | GNAS | RNF43 | TP53 | SMAD4 | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Case# | M/F | Age | Disease group | Risk** | dNGS# | SNV | dNGS# | SNV | dNGS# | SNV | dNGS# | SNV | dNGS# | SNV |
#01 | F | 27 | Control | na | 0 | 0 | 0 | 0 | 0 | |||||
#02 | F | 79 | Control | na | 1 | p.G12D | 0 | 0 | 0 | 0 | ||||
#03 | F | 77 | Control | na | 0 | 0 | 0 | 0 | 0 | |||||
#04 | M | 50 | Control | na | 1 | p.G12D | 0 | 0 | 0 | 0 | ||||
#05 | F | 78 | Control | na | 0 | 0 | 0 | 0 | 0 | |||||
#06 | M | 76 | Control | na | 0 | 0 | 0 | 0 | 0 | |||||
#07 | F | 49 | Control | na | 1,2,2 | p.G12D/V,G13D | 0 | 0 | 0 | 0 | ||||
#08 | F | 65 | Control | na | 0 | 3 | p.R201C | 3 | p.Q402R | 0 | 0 | |||
#09 | M | 45 | Control | na | 1,2 | p.G12D/V | 0 | 0 | 0 | 0 | ||||
#10 | F | 68 | Control | na | 0 | 0 | 0 | 0 | 0 | |||||
#11 | F | 48 | Control | na | 0 | 0 | 0 | 0 | 0 | |||||
#12 | F | 43 | Control | na | 0 | 0 | 0 | 0 | 0 | |||||
#13 | F | 44 | Control | na | 0 | 0 | 0 | 0 | 0 | |||||
#54 | M | 46 | Control | na | 0 | 0 | 0 | 0 | 0 | |||||
#55 | F | 72 | Control | na | 2 | p.Q61L | 0 | 0 | 0 | 0 | ||||
#56 | M | 34 | Control | na | 1 | p.Q61L | 0 | 0 | 0 | 0 | ||||
#57 | F | 52 | Control | na | 1 | p.G12S | 1 | p.R201H | 0 | 0 | 0 | |||
#58 | M | 66 | Control | na | 0 | 2,2 | p.R201C/H | 0 | 0 | 0 | ||||
#59 | F | 59 | Control | na | 1 | p.G12S | 0 | 0 | 0 | 0 | ||||
#60 | M | 59 | Control | na | 1,1 | p.G12D/S | 0 | 0 | 0 | 0 | ||||
#61 | F | 73 | Control | na | 0 | 0 | 0 | 0 | 0 | |||||
#62 | M | 48 | Control | na | 0 | 0 | 0 | 0 | 0 | |||||
#63 | M | 40 | Control | na | 0 | 1 | p.R201C | 0 | 0 | 0 | ||||
#64 | F | 32 | Control | na | 1 | p.G12D | 0 | 0 | 0 | 0 | ||||
#15 | M | 64 | IPMNs | f | 1 | p.G12V | 0 | 0 | 0 | 0 | ||||
#23 | F | 64 | IPMNs | s | 3,4 | p.G12D/V | 0 | 0 | 0 | 0 | ||||
#24 | M | 21 | IPMNs | s | 3 | p.G13D | 29 | p.R201C | 10,3 | p.R343H, Y550C | 0 | 0 | ||
#25 | M | 67 | IPMNs | s | 0 | 0 | 0 | 0 | 0 | |||||
#26 | M | 51 | IPMNs | f | 0 | 4,1 | p.R201C/H | 4,3 | p.P634S, Q402X | 3 | p.R196L | 0 | ||
#27 | M | 62 | IPMNs | f | 0 | 0 | 0 | 2 | p.R248Q | 0 | ||||
#28 | M | 70 | IPMNs | s | 1 | p.G12D | 4,1 | p.R201C/H | 0 | 4 | p.K291R | 0 | ||
#29 | F | 75 | IPMNs | s | 1 | p.G12V | 2 | p.Q227R | 0 | 0 | 0 | |||
#30 | F | 63 | IPMNs | s | 1,2,4 | p.G12D/V/R | 0 | 3 | p.S446F | 0 | 0 | |||
#65 | F | 58 | IPMN | s | 1,1,1 | p.G12D/V,Q61L | 1 | p.Q227R | 0 | 0 | 0 | |||
#66 | M | 67 | IPMN | s | 9 | p.G12C | 0 | 0 | 0 | 0 | ||||
#67 | M | 70 | IPMN | s | 1,1 | p.G12D/V | 2 | p.R201C | 0 | 0 | 0 | |||
#68 | M | 59 | IPMN | s | 1 | p.G12V | 0 | 3 | p.S464G | 0 | 0 | |||
#69 | F | 65 | IPMN | s | 1,1 | p.G12S, Q61R | 1 | p.R201C | 3 | p.S478P | 0 | 0 | ||
#70 | M | 62 | IPMN | s | 1 | p.Q61R | 0 | 0 | 3 | p.M246V | 0 | |||
#71 | F | 84 | IPMN | s | 0 | 0 | 0 | 0 | 0 | |||||
#72 | M | 66 | IPMN | s | 1,2 | p.G12V, Q61H | 1 | p.R201H | 0 | 0 | 0 | |||
#73 | F | 60 | IPMN | s | 1 | p.Q61L | 0 | 0 | 0 | 0 | ||||
#74 | F | 66 | IPMN | s | 1,1,1 | p.G13D, Q61H/R | 0 | 0 | 0 | 0 | ||||
#75 | M | 70 | IPMN | s | 0 | 0 | 0 | 0 | 0 | |||||
#76 | M | 41 | IPMN | s | 1,1 | p.G12V, Q61R | 0 | 0 | 2 | p.R175H | 0 | |||
#77 | F | 55 | IPMN | s | 1 | p.Q61R | 0 | 0 | 0 | 0 | ||||
#78 | F | 74 | IPMN | s | 1,1,1 | p.G12C, G13D, Q61R | 0 | 3 | p.A148V | 3 | p.R175H | 0 | ||
#79 | M | 76 | IPMN | s | 0 | 1 | p.Q227R | 5 | p.A629T | 0 | 0 | |||
#80 | F | 64 | IPMN | s | 1,8 | p.G12V, Q61H | 8 | p.R201C | 0 | 0 | 0 | |||
#81 | F | 44 | IPMN | s | 2,1,1,1,1 | p.G12D/V/R, p.Q61H/R | 1 | p.R201H | 0 | 0 | 0 | |||
#82 | F | 77 | IPMN | s | 1 | p.Q61H | 1 | p.R201H | 0 | 0 | 0 | |||
#83 | F | 67 | IPMN | s | 2,1,1,2,1 | p.G12D/V/R/S, G13D | 0 | 0 | 0 | 0 | ||||
#84 | M | 84 | IPMN | s | 1,1 | p.G12C/S | 1 | p.R201H | 3 | p.G263E | 0 | 0 | ||
#85 | M | 49 | IPMN | s | 1,2 | p.G12D/V | 0 | 0 | 0 | 0 | ||||
#86 | F | 74 | IPMN | s | 1,1,1 | p.G12D, Q61H/R | 1 | p.R201C | 3 | p.L122P | 3 | p.Q165X | 0 | |
#87 | F | 77 | IPMN | s | 1,2,1,1 | p.G12D/V/S, Q61L | 0 | 0 | 0 | 0 | ||||
#88 | F | 83 | IPMN | s | 2 | p.G12V | 1 | p.R201H | 0 | 2 | p.R282W | 0 | ||
#89 | F | 83 | IPMN | s | 0 | 1 | p.R201H | 0 | 4 | p.R248W | 0 | |||
#90 | M | 70 | IPMN | s | 1,1 | p.G12D, Q61H | 1 | p.Q227P | 0 | 2 | p.G245S | 0 | ||
#91 | F | 62 | IPMN | s | 1,1,2 | p.G12V/R/S | 3 | p.R201C | 0 | 0 | 0 | |||
#92 | F | 70 | IPMN | s | 5,4,2 | p.G12D/V/C | 3,1 | p.R201C, Q227R | 0 | 0 | 0 | |||
#93 | M | 62 | IPMN | s | 1,1,1 | p.G12C/S, Q61H | 0 | 0 | 0 | 0 | ||||
#94 | F | 66 | IPMN | s | 0 | 0 | 0 | 0 | 0 | |||||
#95 | M | 64 | IPMN | s | 0 | 2 | p.R201C | 0 | 0 | 0 | ||||
#96 | M | 76 | IPMN | s | 0 | 0 | 0 | 2 | p.R248W | 0 | ||||
#97 | F | 83 | IPMN | s | 13 | p.G12V | 1,1 | p.R201C/H | 0 | 0 | 0 | |||
#98 | F | 68 | IPMN | s | 0 | 0 | 0 | 2 | p.Q136X | 0 | ||||
#99 | F | 60 | IPMN | s | 1,1 | p.Q61L/R | 1 | p.R201H | 3 | p.S111G | 0 | 0 | ||
#14 | M | 48 | LG-IPMN | s | 0 | 1 | p.R201H | 4 | p.A618V | 0 | 0 | |||
#16 | F | 63 | LG-IPMN | f | 2 | p.G12D | 0 | 0 | 0 | 0 | ||||
#17 | F | 60 | LG-IPMN | f | 5,8,1,3,2 | p.G13D, G12C/R/V, Q61R | 8 | p.R201H | 15 | p.L12Rfs | 2 | p.R248Q | 0 | |
#18 | M | 75 | LG-IPMN | f | 1 | p.G12V | 2,1 | p.Q227R, R201C | 0 | 0 | 0 | |||
#100 | M | 78 | LG-IPMN | f | 1,2 | p.G13D, Q61R | 1 | p.Q227R | 0 | 2 | p.R175H | 0 | ||
#101 | M | 72 | LG-IPMN | f | 0 | 0 | 0 | 0 | 0 | |||||
#19 | F | 67 | IM-IPMN | s | 2 | p.G13D | 2 | p.R201C | 0 | 0 | 0 | |||
#20 | F | 73 | IM-IPMN | s | 0 | 2 | p.R201C | 0 | 2 | p.R282W | 0 | |||
#21 | F | 67 | IM-IPMN | s | 1 | p.G12V | 1 | p.R201C | 0 | 0 | 3 | p.W524R^ | ||
#22 | M | 65 | IM-IPMN | f | 2 | p.G12V | 0 | 0 | 0 | 0 | ||||
#102 | M | 72 | IM-IPMN | s | 5 | p.Q61H | 0 | 3 | p.R127Q | 0 | 0 | |||
#103 | F | 75 | IM-IPMN | f | 7,1,18,1,18 | p.G12A/V/R, G13D, Q61H | 1 | p.R201C | 0 | 0 | 0 | |||
#104 | M | 71 | HG-IPMN | f | 1,1,2,1,7,4,1 | p.G12D/R/S, G13D, p.Q61L/H/P | 0 | 0 | 0 | 0 | ||||
#31 | M | 79 | PDAC/IPMNs | s | 1 | p.G12V | 0 | 0 | 2 | p.R196X | 0 | |||
#32 | M | 69 | PDAC/IPMNs | s | 1 | p.Q61R | 0 | 0 | 3 | p.R175H | 0 | |||
#33 | F | 74 | PDAC/IPMNs | s | 4,2 | p.G13D, G12R | 1 | p.R201H | 0 | 0 | 0 | |||
#34 | F | 55 | PDAC/IPMNs | s | 23,6,3,2,2,2,2,2 | p.G12D/S/R/C/V, G13C/D | 0 | 3 | p.R454H | 26 | p.R248Q | 0 | ||
#35 | M | 65 | PDAC/IPMNs | f | 1 | p.G12V | 0 | 0 | 3 | p.R248Q | 0 | |||
#36 | M | 74 | PDAC/IPMNs | f | 21 | p.G12D | 2 | p.R201C | 0 | 0 | 26,4 | p.Q311X, Q256X | ||
#37 | M | 69 | PDAC/IPMN | s | 0 | 61 | p.R201C | 0 | 87 | p.L194R | 0 | |||
#38 | M | 73 | PDAC/IPMNs | s | 12 | p.G12D | 1,1 | p.R201C/H | 0 | 0 | 0 | |||
#105 | M | 68 | PDAC/IPMNs | s | 1 | p.G12D | 6 | p.R201C | 3,3 | p.F322S, H295R | 8 | p.C141G | 0 | |
#106 | M | 44 | PDAC/IPMNs | s | 10 | p.Q61R | 0 | 0 | 12 | p.R175H | 3 | p.T273fs | ||
#107 | M | 59 | PDAC/IPMN | s | 8,8 | p.G12D/S | 0 | 10 | p.P470fs | 2 | p.R175H | 0 | ||
#115 | M | 68 | PDAC/IPMN | s | 6,1,1 | p.G12C/S, Q61L | 1 | p.R201H | 0 | 3 | p.R181C | 0 | ||
#39 | M | 70 | PDAC | f | 0 | 0 | 0 | 0 | 0 | |||||
#40 | M | 53 | PDAC | s | 0 | 0 | 0 | 6 | p. L130Sfs | 0 | ||||
#41 | F | 46 | PDAC | s | 3,6 | p.G12D/R | 2 | p.R201H | 4 | p.C471R | 0 | 0 | ||
#42 | M | 78 | PDAC | s | 6,2 | p.G13D, G12V | 1 | p.R201C | 0 | 0 | 0 | |||
#43 | F | 59 | PDAC | s | 3,5 | p.G12S/V | 0 | 0 | 2 | p.R248W | 0 | |||
#44 | F | 77 | PDAC | s | 1 | p.G12D | 2 | p.R201C | 5 | p.H556R | 3 | p.R175H | 7 | p.A457V^ |
#45 | M | 56 | PDAC | s | 6,2 | p.G12D/V | 0 | 4 | p.R519X | 7 | p.Y220C | 0 | ||
#46 | M | 58 | PDAC | s | 17 | p.G12D | 0 | 0 | 0 | 0 | ||||
#47 | F | 75 | PDAC | s | 32,22,4,4 | p.G13D, Q61H, G12D/R | 0 | 0 | 2 | p.R273C | 0 | |||
#48 | M | 59 | PDAC | f | 0 | 0 | 3,3 | p.L109P, V480A | 3 | p.C277R | 3 | p.M543T^ | ||
#49 | F | 69 | PDAC | s | 23,2 | p.G12V/S | 2 | p.R201C | 0 | 39 | p.R196X | 0 | ||
#50 | F | 68 | PDAC | s | 0 | 0 | 0 | 0 | 0 | |||||
#51 | F | 66 | PDAC | s | 0 | 0 | 0 | 0 | 11 | p.K50Kfs | ||||
#52 | F | 62 | PDAC | f | 4 | p.G12D | 0 | 0 | 0 | 0 | ||||
#53 | F | 79 | PDAC | f | 1,1 | p.G12D/R | 0 | 0 | 4,1,1 | p.Y220C, R248W/Q | 0 | |||
#108 | M | 63 | PDAC | s | 0 | 1 | p.Q227R | 0 | 0 | 0 | ||||
#109 | M | 71 | PDAC | s | 1 | p.Q61H | 0 | 0 | 0 | 0 | ||||
#110 | M | 70 | PDAC | f | 0 | 0 | 3 | p.H472R | 2 | p.R248W | 0 | |||
#111 | M | 62 | PDAC | s | 2,1 | p.G12D, G13D | 0 | 0 | 0 | 0 | ||||
#112 | F | 71 | PDAC | s | 1 | p.Q61H | 1 | p.R201C | 0 | 2,2 | p.R248W, Y163C | 0 | ||
#113 | F | 77 | PDAC | s | 11 | p.G12V | 1 | p.R201H | 0 | 2 | p.Y220C | 0 | ||
#114 | M | 57 | PDAC | s | 0 | 0 | 0 | 0 | 0 |
Case #20 had a BRAF K601K mutation (score 4), Case #26 had a TGFBR2 mutation D317Y (score 4), Case #53 had PIK3CA mutations H1047L/R (score 3, 6), Case#105 had a BRAF F595L mutation (score 4), Case # had a Case #107 had a PIK3CA H1047R mutation (score 3).
*, Other four genes shown in supplementary table;**, s: sporadic; f: familial. dNGS#:digital NGS score (mutation concentration); SNV:single nucleotide variant (i.e. somatic mutation). ^suspected pathogenic.