Table 2.
The mutations in SMAD4/DPC4. KRAS, TP53, VHL, PTEN, TSC2, DAXX, ATRX, and MEN1 in pNETs.
| Sample | Gene | Nucleotide (genomic) | Amino acid change | Mutation type |
|---|---|---|---|---|
| pNET4 | ATRX | chrx:76778854 | CAG(Q)>CCG(P) | missense |
| ATRX | chrx:76907608 | AGA(R)>ATA(I) | missense | |
| ATRX | chrx:76814262 | GCT(A)>ACT(T) | missense | |
| ATRX | chrx:76814186 | CGC(R)>CAC(H) | missense | |
| pNET9 | ATRX | chrx:76907836-76907837 | indel | |
| pNET15 | ATRX | chrx:76907741 | Gly(GGA)->Arg(AGA) | missense |
| pNET17 | ATRX | chrx:76907744 | Pro(CCT)->Ser(TCT) | missense |
| pNET25 | ATRX | chrx:76874303 | CTC(L)>GTC(V) | missense |
| pNET28 | ATRX | chrx:76907645 | CGT(R)>GGT(G) | missense |
| pNET31 | ATRX | chrx:76778855 | CAG(Q)>TAG(Stop) | nonsense |
| pNET34 | ATRX | chrx:76874303 | CTC(L)>GTC(V) | missense |
| pNET37 | ATRX | chrx:76778844 | AAA(K)>AAT(N) | missense |
| pNET40 | ATRX | chrx:76939403 | CCT(P)>GCT(A) | missense |
| ATRX | chrx:76907612 | TTG(L)>ATG(M) | missense | |
| ATRX | chrx:76907660 | GAA(E)>AAA(K) | missense | |
| pNET41 | ATRX | chrx:76907663 | GAG(E)>CAG(Q) | missense |
| ATRX | chrx:76907840 | AAT(N)>TAT(Y) | missense | |
| pNET42 | ATRX | chrx:76909619 | AAG(K)>AGG(R) | missense |
| ATRX | chrx:76907840 | AAT(N)>TAT(Y) | missense | |
| pNET43 | ATRX | chrx:76907660 | GAA(E)>AAA(K) | missense |
| pNET1 | DAXX | chr6:33287895 | Glu(GAA)->Gly(GGA) | missense |
| pNET3 | DAXX | chr6:33288158 | Glu(GAG)->Val(GTG) | missense |
| pNET4 | DAXX | chr6:33287895 | Glu(GAA)->Gly(GGA) | missense |
| pNET6 | DAXX | chr6:33287869 | Glu(GAA)->Lys(AAA) | missense |
| pNET15 | DAXX | chr6:33289268 | Ala(GCC)->Val(GTC) | missense |
| pNET20 | DAXX | chr6:33289256-33289256 | indel | |
| pNET22 | DAXX | chr6:33289256-33289256 | indel | |
| pNET25 | DAXX | chr6:33286925 | TCC(S)>TTC(F) | missense |
| pNET29 | DAXX | chr6:33288170 | L-Stop 413 | nonsense |
| pNET30 | DAXX | chr6:33287844 | ATG(M)>AGG(R) | missense |
| pNET31 | DAXX | chr6:33287902 | GAG(E)>CAG(Q) | missense |
| DAXX | chr6:33287844 | ATG(M)>AGG(R) | missense | |
| pNET15 | KRAS | chr12:25398299 | Val(GTG)->Ala(GCG) | missense |
| pNET25 | KRAS | chr12:25398284 | rs121913529 | missense |
| Gly(GGT)->Asp(GAT) | ||||
| pNET31 | KRAS | chr12:25398266 | Ala(GCC)->Val(GTC) | missense |
| pNET40 | KRAS | chr12:25398284 | rs121913529 | missense |
| Gly(GGT)->Asp(GAT) | ||||
| pNET1 | MEN1 | chr11:64577464 | Val(GTG)->Leu(TTG) | missense |
| MEN1 | chr11:64577355 | T->I 76 | missense | |
| pNET3 | MEN1 | chr11:64577526 | Val(GTG)->Glu(GAG) | missense |
| pNET4 | MEN1 | chr11:64574502 | Pro(CCA)->Leu(CTA) | missense |
| MEN1 | chr11:64577391 | CAG(Q)>CGG(R) | missense | |
| MEN1 | chr11:64577182 | TTC(F)>CTC(L) | missense | |
| pNET9 | MEN1 | chr11:64577397 | Thr(ACC)->Ile(ATC) | missense |
| pNET13 | MEN1 | chr11:64574514 | Gly(GGC)->Asp(GAC) | missense |
| pNET14 | MEN1 | chr11:64577307 | R->H 92 | missense |
| MEN1 | chr11:64577397 | Thr(ACC)->Ile(ATC) | missense | |
| pNET15 | MEN1 | chr11:64577185 | Y->H 133 | missense |
| pNET17 | MEN1 | chr11:64574502 | Pro(CCA)->Leu(CTA) | missense |
| pNET30 | MEN1 | chr11:64574565 | CCC(P)>CTC(L) | missense |
| pNET33 | MEN1 | chr11:64577389 | CCC(P)>ACC(T) | missense |
| CCC(P)>TCC(S) | missense | |||
| pNET34 | MEN1 | chr11:64577316 | Leu(CTC)->Arg(CGC) | missense |
| MEN1 | chr11:64577389 | CCC(P)>ACC(T) | missense | |
| CCC(P)>TCC(S) | ||||
| pNET35 | MEN1 | chr11:64574671 | Tyr(TAT)->Stop(TAG) | nonsense |
| pNET38 | MEN1 | chr11:64574502 | Pro(CCA)->Leu(CTA) | missense |
| pNET3 | TP53 | chr17:7579424 | Ala(GCC)->Asp(GAC) | missense |
| pNET25 | TP53 | chr17:7579387 | Q->H 100 | missense |
| pNET36 | TP53 | chr17:7577509-7577509 | indel | |
| pNET37 | TP53 | chr17:7579293-7579294 | indel | |
| pNET41 | TP53 | chr17:7578481 | ACA(T)>AAA(K) | missense |
| pNET3 | PTEN | chr10:89720826 | Asp(GAC)->Ala(GCC) | missense |
| pNET18 | PTEN | chr10:89720870 | Phe(TTT)->Val(GTT) | missense |
| pNET21 | PTEN | chr10:89720870 | Phe(TTT)->Val(GTT) | missense |
| pNET24 | PTEN | chr10:89720826 | Asp(GAC)->Ala(GCC) | missense |
| pNET25 | PTEN | chr10:89720853 | CGA(R)>CAA(Q) | missense |
| pNET32 | PTEN | chr10:89720870 | Phe(TTT)->Val(GTT) | missense |
| pNET34 | PTEN | chr10:89685307 | TAC(Y)>CAC(H) | missense |
| PTEN | chr10:89720816-89720817 | rs121913291 | indel | |
| pNET22 | SMAD4/DPC4 | chr18:48593423 | Lys(AAA)->Gln(CAA) | missense |
| pNET1 | TSC2 | chr16:2134968 | Leu(CTC)->Val(GTC) | missense |
| pNET4 | TSC2 | chr16:2130258 | GCG(A)>ACG(T) | missense |
| pNET7 | TSC2 | chr16:2134973-2134974 | rs137854017 | indel |
| pNET10 | TSC2 | chr16:2134973-2134974 | rs137854017 | indel |
| pNET15 | TSC2 | chr16:2134994 | D->E 151 | missense |
| TSC2 | chr16:2135013 | L->M 1519 | missense | |
| pNET16 | TSC2 | chr16:2134994 | D->E 151 | missense |
| TSC2 | chr16:2135013 | L->M 1519 | missense | |
| TSC2 | chr16:2136843 | G->S 1654 | missense | |
| pNET20 | TSC2 | chr16:2136843 | G->S 1654 | missense |
| pNET24 | TSC2 | chr16:2134992 | D->N 1512 | missense |
| TSC2 | chr16:2136873-2136873 | rs137854005 | indel | |
| pNET25 | TSC2 | chr16:2130168-2130169 | rs137854314 | indel |
| pNET28 | TSC2 | chr16:2134961-2134962 | rs137854160 | indel |
| pNET29 | TSC2 | chr16:2130168-2130169 | rs137854314 | indel |
| pNET30 | TSC2 | chr16:2134329 | CGG(R)>CAG(Q) | missense |
| pNET31 | TSC2 | chr16:2134328 | rs45517328 1369 | missense |
| TSC2 | chr16:2134391 | GAG(E)>CAG(Q) | missense | |
| pNET33 | TSC2 | chr16:2134961-2134962 | rs137854160 | indel |
| TSC2 | chr16:2130259 | rs45448801 | missense | |
| GCG(A)>GAG(E) | ||||
| pNET34 | TSC2 | chr16:2134961-2134962 | rs137854160 | indel |
| pNET35 | TSC2 | chr16:2134961-2134962 | rs137854160 | indel |
| TSC2 | chr16:2130168-2130169 | rs137854314 | indel | |
| TSC2 | chr16:2130266-2130266 | rs137854340 | indel | |
| pNET1 | VHL | chr3:10183775 | Arg(CGC)->Cys(TGC) | missense |
| VHL | chr3:10188212 | F->I 119 | missense | |
| VHL | chr3:10188218 | D->H 121 | missense | |
| VHL | chr3:10183734 | Ser(TCG)->Leu(TTG) | missense | |
| pNET3 | VHL | chr3:10183737 | Arg(CGC)->His(CAC) | missense |
| VHL | chr3:10188304-10188305 | indel | ||
| pNET7 | VHL | chr3:10191563 | Glu(GAA)->Lys(AAA) | missense |
| pNET10 | VHL | chr3:10183841 | Gly(GGC)->Ser(AGC) | missense |
| pNET13 | VHL | chr3:10188307-10188308 | rs5030624 | indel |
| pNET14 | VHL | chr3:10183736 | Arg(CGC)->Cys (TGC) | missense |
| VHL | chr3:10183734 | Ser(TCG)->Leu(TTG) | missense | |
| pNET15 | VHL | chr3:10183736 | Arg(CGC)->Cys (TGC) | missense |
| pNET17 | VHL | chr3:10183826 | Pro(CCA)->Ser(TCA) | missense |
| pNET20 | VHL | chr3:10183734 | Ser(TCG)->Leu(TTG) | missense |
| VHL | chr3:10188304-10188305 | indel | ||
| pNET22 | VHL | chr3:10183734 | Ser(TCG)->Leu(TTG) | missense |
| pNET25 | VHL | chr3:10183736 | Arg(CGC)->Cys (TGC) | missense |
| VHL | chr3:10183682 | Glu(GAG)->Stop(TAG) | nonsense | |
| pNET28 | VHL | chr3:10183704 | CGG(R)>CAG(Q) | missense |
| pNET33 | VHL | chr3:10183802 | Phe(TTC)->Leu(CTC) | missense |
| pNET34 | VHL | chr3:10188304-10188305 | indel | |
| pNET38 | VHL | chr3:10183809 | GGC(G)>GAC(D) | missense |
| VHL | chr3:10188230 | CAC(H)>TAC(Y) | missense |