Skip to main content

Table 1 Mutations in primary and metastatic lesions

From: Acquired resistance to immunotherapy in MMR-D pancreatic cancer

Gene Protein change Mutation type
Primary Pancreas Lesion
KRAS G12D Missense_Mutation
RNF43 G659Vfs*41 Frame_Shift_Del
ARID1A P1326Rfs*155 Frame_Shift_Del
STK11 P281Rfs*6 Frame_Shift_Del
B2M S14Ffs*29 Frame_Shift_Del
MAP3K1 N1079Ifs*3 Frame_Shift_Del
ARID1A A339Lfs*24 Frame_Shift_Del
CIC P1529Lfs*91 Frame_Shift_Del
ERCC4 R689C Missense_Mutation
PIK3R1 M1? Translation_Start_Site
KMT2A S2872* Nonsense_Mutation
BCL2L11 S118Kfs*21 Frame_Shift_Ins
MLH1 X556_splice Splice_Site
FANCA P1444Rfs*3 Frame_Shift_Del
BRCA2 R2502C Missense_Mutation
BCOR S526 L Missense_Mutation
BRCA2 K1191 M Missense_Mutation
ALK G1202Efs*56 Frame_Shift_Del
ZFHX3 A3407Lfs*78 Frame_Shift_Del
PTPRS R1102H Missense_Mutation
FLT1 R1305H Missense_Mutation
AR R280C Missense_Mutation
ROS1 R1592C Missense_Mutation
JAK3 P84Rfs*63 Frame_Shift_Del
PTPRT I502T Missense_Mutation
RECQL4 V155Sfs*25 Frame_Shift_Del
VTCN1 Y145H Missense_Mutation
RAF1 Y458F Missense_Mutation
SETD2 D1057N Missense_Mutation
GATA2 P385S Missense_Mutation
APC R259Q Missense_Mutation
APC T1932A Missense_Mutation
ARID1B G314R Missense_Mutation
ARID1B A1002V Missense_Mutation
RECQL4 G1166S Missense_Mutation
RECQL4 A33V Missense_Mutation
PAX5 R38C Missense_Mutation
TGFBR1 V229D Missense_Mutation
H3F3C M120 V Missense_Mutation
KMT2D S1555F Missense_Mutation
CREBBP P2311L Missense_Mutation
ZFHX3 T2667A Missense_Mutation
PLCG2 L631R Missense_Mutation
SPOP N196K Missense_Mutation
STK11 L285R Missense_Mutation
INSR R279H Missense_Mutation
MEF2B P106H Missense_Mutation
TOP1 I457T Missense_Mutation
NF2 K469R Missense_Mutation
AR V139M Missense_Mutation
TRAF7 N174del In_Frame_Del
Metastatic Site: Ovary/Endometrium
KRAS G12D Missense_Mutation
RNF43 G659Vfs*41 Frame_Shift_Del
TSC2 Q35* Nonsense_Mutation
TP53 R273C Missense_Mutation
STK11 X245_splice Splice_Site
PBRM1 P1411Lfs*21 Frame_Shift_Del
BARD1 K208Rfs*4 Frame_Shift_Del
ATRX D1940Ifs*15 Frame_Shift_Del
KMT2D K4318Efs*15 Frame_Shift_Del
KMT2B G1879Vfs*16 Frame_Shift_Del
NRAS A66V Missense_Mutation
CIC R440H Missense_Mutation
INSR R1331C Missense_Mutation
MYCN R285Q Missense_Mutation
BCL6 S434 N Missense_Mutation
TNFAIP3 K759Qfs*10 Frame_Shift_Ins
RPS6KA4 RPS6KA4-BAD fusion Fusion
FLT3 S188R Missense_Mutation
ERBB2 H193N Missense_Mutation
DOT1L V170 L Missense_Mutation
PTPRT E917V Missense_Mutation
HIST1H3F T119A Missense_Mutation
INHBA A41T Missense_Mutation
RXRA G73C Missense_Mutation
ARAF E556G Missense_Mutation
BAD RPS6KA4-BAD fusion Fusion