Table 2.

Somatic mutations detected in pancreatic juice by digital NGS

KRASGNASRNF43TP53SMAD4Other*Total# of unique mutations
Case#M/FAgeRiskStudy groupdNGS#dNGS#dNGS#dNGS#dNGS#dNGS#dNGS#
104F84ControlNormal0
108M46ControlNormal0
109F54ControlNormal441
122M59ControlNormal0
123F47ControlNormalp.G12D, G13D5,12172
131F56ControlNormalp.G12V2463
134M76ControlNormalp.G12R1p.L163fs672
135F69ControlNormal0
137F38ControlNormal0
89F74FamilialSurveillance0
91F79FamilialSurveillancep.Q61R2p.R273H352
93M71FamilialSurveillancep.R201C221
95M78FamilialSurveillancep.G12V/S1,342
99M72HR—BRCA2Surveillance0
121M67HR—BRCA2Surveillance0
124F70FamilialSurveillancep.G12V1p.R201C2p.H214R473
105M70FamilialSurveillance0
127M70FamilialSurveillancep.G12R111
128M73HR—BRCA1Surveillancep.Q61R221
129F70FamilialSurveillancep.G13D3p.R201H252
130F69FamilialSurveillance0
132F67FamilialSurveillancep.G12V1p.H179R452
133F65FamilialSurveillance0
90M77HR—p16Surveillancep.R201H331
92M74FamilialSurveillancep.G12D2p.R201C242
96M71FamilialSurveillancep.G12V2462
100M72FamilialSurveillancep.G12D/V2,132
110M75FamilialSurveillance0
111M70FamilialSurveillancep.G12V/R2,1p.R201C/H2,274
112M72FamilialSurveillancep.G12D/S,Q61Ha2,3,383
113F58FamilialSurveillancep.G12D2c.375+2A>AG462
114M63FamilialSurveillancep.G12V,Q61R1,232
115M62HR—PJSSurveillancep.G12V221
116F38HR—PJSSurveillancep.R273H3p.C499R472
117F69FamilialSurveillancep.G12R111
118F53HR—BRCA2Surveillancep.G12R1p.S474P4493
119F68FamilialSurveillancep.G12D59c.559+2A>AG44673
120F54FamilialSurveillancep.G12A,Q61Ha4,9132
126F72FamilialSurveillancep.R201H2p.R248W, R306X5,4113
136F57HR—PALB2Surveillance0
77M57IncidentalPrecursor—LG0
75M64HR—BRCA2Precursor—LGp.G12V, Q61R1,232
72F58HR—PRSS1Precursor—LG0
76M69FamilialPrecursor—LGp.Q61R221
107F61IncidentalPrecursor—LGp.R201H11111
87M65IncidentalPrecursor—LGp.R201H2p.R282Q310154
71M65FamilialPrecursor—LGp.G12D/V/R G13R, Q61H9,12,4,3,2p.R201C/H7,3p.R132X4447
070bM62FamilialPrecursor—ERCPp.G12D/V/R, Q61Hc72,13,175,14p.R201C/H6,17p.E43fs, R145X, R330X, Q768fs39,16,5,4p.M237fs, G245S11,7438313
79M57MASPrecursor—MASp.G12D/R,Q61Hb/L3,1,3,6p.R201C131p.R248Q31476
73F66FamilialPrecursor—HGp.G12V/R1,1p.R273C, H365fs3,8p.G299fs,Y434fs6,108378
74F65HR—PJSPrecursor—HGp.G12D/V/C4,2,2p.R113X9174
81F87IncidentalPrecursor—HGp.R201C1271271
98M77IncidentalPrecursor—HGp.G12D/A,G13R,Q61R2,2,3,2p.R201C4p.R145X5p.R283H4227
78F75PCPCp.G12D7p.W91X,V274A,N288D5,5,4214
80F78PCPCp.G12V/R2,1p.R201C2p.G89fs59196
82M62PCPCp.G12D34p.S315Y17512
83F72PCPCp.D537G441
84M72PCPC with IPMNp.R201C221
85M73PCPCp.G12D3p.R248W, N310D3,4103
86M65PCPCp.G12D/V/R13,2,2p.R201C2p.L341fs6p.S315Y8336
88F77PCPCp.G12V/R1,35p.R273C3211795
94M53PCPCp.G12V8p.H193Y635493
97M51PCPCp.G12V, Q61K1,46p.H350fs4513
101M85PCPC with IPMNp.G12D221
102M68PCPCp.G266fs5p.L533R492
103M61PCPC with IPMNp.G12D111p.R201C80p.Q331fs72342974
106F62PCPCp.G12D/V/R3,2,9p.R175H, R248Q4,4225
  • Abbreviations: ERCP, endoscopic retrograde cholangiopancreatography; dNGS#, digital NGS score (mutation concentration); F, female; HG, high grade; HR, high risk; LG, low grade; M, male; MAS, McCune–Albright syndrome; PC, pancreatic cancer; Precursor, precursor by surgical pathology.

  • aOther mutations: case #109, CDKN2A p.G67S (score 4); case #131, TGFBR2 p.F136fs (score 4); case #96, FBWX7 Y545C (score 4); case #118, ARID1A 3199-2A>AG (score 4); case #119, CDKN2A p.F90L (score 4); case #087, ARID1A p.S513fs (score 10); case #070, ARID1A p.S1839fs (score 4); case #073, FBXW7 p.G687fs (score 4) and an ARID1A S1998P (score 4); case #080, FBXW7 p.L417X (score 5) and an ARID1A Q1835R (score 4); case #088, CDKN2A p.R128W (score 4) and FBXW7 p.G687fs (score 7); case #94, ARID1A p.S513fs (score 17), p.Q529fs (score 6), and p.H544fs (score 12); and case #103, CDKN2A p.D108V (score 34).

  • bJuice collected by ERCP.