TableĀ 1.

Somatic mutations identified in pancreatic juice by digital NGS*

KRASGNASRNF43TP53SMAD4
Case#M/FAgeDisease groupRisk**dNGS#SNVdNGS#SNVdNGS#SNVdNGS#SNVdNGS#SNV
#01F27Controlna00000
#02F79Controlna1p.G12D0000
#03F77Controlna00000
#04M50Controlna1p.G12D0000
#05F78Controlna00000
#06M76Controlna00000
#07F49Controlna1,2,2p.G12D/V,G13D0000
#08F65Controlna03p.R201C3p.Q402R00
#09M45Controlna1,2p.G12D/V0000
#10F68Controlna00000
#11F48Controlna00000
#12F43Controlna00000
#13F44Controlna00000
#54M46Controlna00000
#55F72Controlna2p.Q61L0000
#56M34Controlna1p.Q61L0000
#57F52Controlna1p.G12S1p.R201H000
#58M66Controlna02,2p.R201C/H000
#59F59Controlna1p.G12S0000
#60M59Controlna1,1p.G12D/S0000
#61F73Controlna00000
#62M48Controlna00000
#63M40Controlna01p.R201C000
#64F32Controlna1p.G12D0000
#15M64IPMNsf1p.G12V0000
#23F64IPMNss3,4p.G12D/V0000
#24M21IPMNss3p.G13D29p.R201C10,3p.R343H, Y550C00
#25M67IPMNss00000
#26M51IPMNsf04,1p.R201C/H4,3p.P634S, Q402X3p.R196L0
#27M62IPMNsf0002p.R248Q0
#28M70IPMNss1p.G12D4,1p.R201C/H04p.K291R0
#29F75IPMNss1p.G12V2p.Q227R000
#30F63IPMNss1,2,4p.G12D/V/R03p.S446F00
#65F58IPMNs1,1,1p.G12D/V,Q61L1p.Q227R000
#66M67IPMNs9p.G12C0000
#67M70IPMNs1,1p.G12D/V2p.R201C000
#68M59IPMNs1p.G12V03p.S464G00
#69F65IPMNs1,1p.G12S, Q61R1p.R201C3p.S478P00
#70M62IPMNs1p.Q61R003p.M246V0
#71F84IPMNs00000
#72M66IPMNs1,2p.G12V, Q61H1p.R201H000
#73F60IPMNs1p.Q61L0000
#74F66IPMNs1,1,1p.G13D, Q61H/R0000
#75M70IPMNs00000
#76M41IPMNs1,1p.G12V, Q61R002p.R175H0
#77F55IPMNs1p.Q61R0000
#78F74IPMNs1,1,1p.G12C, G13D, Q61R03p.A148V3p.R175H0
#79M76IPMNs01p.Q227R5p.A629T00
#80F64IPMNs1,8p.G12V, Q61H8p.R201C000
#81F44IPMNs2,1,1,1,1p.G12D/V/R, p.Q61H/R1p.R201H000
#82F77IPMNs1p.Q61H1p.R201H000
#83F67IPMNs2,1,1,2,1p.G12D/V/R/S, G13D0000
#84M84IPMNs1,1p.G12C/S1p.R201H3p.G263E00
#85M49IPMNs1,2p.G12D/V0000
#86F74IPMNs1,1,1p.G12D, Q61H/R1p.R201C3p.L122P3p.Q165X0
#87F77IPMNs1,2,1,1p.G12D/V/S, Q61L0000
#88F83IPMNs2p.G12V1p.R201H02p.R282W0
#89F83IPMNs01p.R201H04p.R248W0
#90M70IPMNs1,1p.G12D, Q61H1p.Q227P02p.G245S0
#91F62IPMNs1,1,2p.G12V/R/S3p.R201C000
#92F70IPMNs5,4,2p.G12D/V/C3,1p.R201C, Q227R000
#93M62IPMNs1,1,1p.G12C/S, Q61H0000
#94F66IPMNs00000
#95M64IPMNs02p.R201C000
#96M76IPMNs0002p.R248W0
#97F83IPMNs13p.G12V1,1p.R201C/H000
#98F68IPMNs0002p.Q136X0
#99F60IPMNs1,1p.Q61L/R1p.R201H3p.S111G00
#14M48LG-IPMNs01p.R201H4p.A618V00
#16F63LG-IPMNf2p.G12D0000
#17F60LG-IPMNf5,8,1,3,2p.G13D, G12C/R/V, Q61R8p.R201H15p.L12Rfs2p.R248Q0
#18M75LG-IPMNf1p.G12V2,1p.Q227R, R201C000
#100M78LG-IPMNf1,2p.G13D, Q61R1p.Q227R02p.R175H0
#101M72LG-IPMNf00000
#19F67IM-IPMNs2p.G13D2p.R201C000
#20F73IM-IPMNs02p.R201C02p.R282W0
#21F67IM-IPMNs1p.G12V1p.R201C003p.W524R^
#22M65IM-IPMNf2p.G12V0000
#102M72IM-IPMNs5p.Q61H03p.R127Q00
#103F75IM-IPMNf7,1,18,1,18p.G12A/V/R, G13D, Q61H1p.R201C000
#104M71HG-IPMNf1,1,2,1,7,4,1p.G12D/R/S, G13D, p.Q61L/H/P0000
#31M79PDAC/IPMNss1p.G12V002p.R196X0
#32M69PDAC/IPMNss1p.Q61R003p.R175H0
#33F74PDAC/IPMNss4,2p.G13D, G12R1p.R201H000
#34F55PDAC/IPMNss23,6,3,2,2,2,2,2p.G12D/S/R/C/V, G13C/D03p.R454H26p.R248Q0
#35M65PDAC/IPMNsf1p.G12V003p.R248Q0
#36M74PDAC/IPMNsf21p.G12D2p.R201C0026,4p.Q311X, Q256X
#37M69PDAC/IPMNs061p.R201C087p.L194R0
#38M73PDAC/IPMNss12p.G12D1,1p.R201C/H000
#105M68PDAC/IPMNss1p.G12D6p.R201C3,3p.F322S, H295R8p.C141G0
#106M44PDAC/IPMNss10p.Q61R0012p.R175H3p.T273fs
#107M59PDAC/IPMNs8,8p.G12D/S010p.P470fs2p.R175H0
#115M68PDAC/IPMNs6,1,1p.G12C/S, Q61L1p.R201H03p.R181C0
#39M70PDACf00000
#40M53PDACs0006p. L130Sfs0
#41F46PDACs3,6p.G12D/R2p.R201H4p.C471R00
#42M78PDACs6,2p.G13D, G12V1p.R201C000
#43F59PDACs3,5p.G12S/V002p.R248W0
#44F77PDACs1p.G12D2p.R201C5p.H556R3p.R175H7p.A457V^
#45M56PDACs6,2p.G12D/V04p.R519X7p.Y220C0
#46M58PDACs17p.G12D0000
#47F75PDACs32,22,4,4p.G13D, Q61H, G12D/R002p.R273C0
#48M59PDACf003,3p.L109P, V480A3p.C277R3p.M543T^
#49F69PDACs23,2p.G12V/S2p.R201C039p.R196X0
#50F68PDACs00000
#51F66PDACs000011p.K50Kfs
#52F62PDACf4p.G12D0000
#53F79PDACf1,1p.G12D/R004,1,1p.Y220C, R248W/Q0
#108M63PDACs01p.Q227R000
#109M71PDACs1p.Q61H0000
#110M70PDACf003p.H472R2p.R248W0
#111M62PDACs2,1p.G12D, G13D0000
#112F71PDACs1p.Q61H1p.R201C02,2p.R248W, Y163C0
#113F77PDACs11p.G12V1p.R201H02p.Y220C0
#114M57PDACs00000
  • 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.