Table 3.

Results of exome sequencing in 13 patients

Region of interestType defined by microarrayNumber of genes with variantsGenes with recurrent variationsNumber of cases (95% CI)Potentially oncogenic (according to Cancer genes)PubMed Search: Gene AND GISTPotential oncogenic according to Gene Database
1pLoss48
GPR1534 (31%; 95% CI, 13–58%)NoNoNo
LOC4405634 (31%; 95% CI, 13–58%)NoNoNo
PRAMEF194 (31%; 95% CI, 13–58%)NoNoNo
CROCC5 (39%; 95% CI, 18–65%)NoNoYes
PRAMEF16 (46%; 95% CI, 23–71%)NoNoYes
HNRNPCL17 (54%; 95% CI, 29–77%)NoNoYes
3pLoss33
ALS2CL3 (23%; 95% CI, 8–50%)NoNoYes
COL7A13 (23%; 95% CI, 8–50%)NoNoNo
LAMB23 (23%; 95% CI, 8–50%)NoNoYes
MST13 (23%; 95% CI, 8–50%)NoNoYes
RBM5a3 (23%; 95% CI, 8–50%)YesNoYes
RAD54L2a4 (31%; 95% CI, 13–58%)YesNoYes
13qLoss9
FAM194B4 (31%; 95% CI, 13–58%)NoNoYes
RB1a3 (23%; 95% CI, 8–50%)YesYesYes
14qLoss64
SYNE2a,b3 (23%; 95% CI, 8–50%)NoNoYes
GALC3 (23%; 95% CI, 8–50%)NoNoNo
DYNC1H15 (39%; 95% CI, 18–65%)NoNoNo
AHNAK26 (46%; 95% CI, 23–71%)NoNoNo
15qLoss12
MYO5A3 (23%; 95% CI, 8–50%)NoNoNo
USP8a5 (39%; 95% CI, 18–65%)NoNoYes
22qLoss80
AP1B1c3 (23%; 95% CI, 8–50%)NoNoYes
NEFH3 (23%; 95% CI, 8–50%)NoNoNo
SEC14L43 (23%; 95% CI, 8–50%)NoNoNo
RFPL33 (23%; 95% CI, 8–50%)NoNoNo
GTSE1a3 (23%; 95% CI, 8–50%)YesNoYes
MAPK8IP2a,b3 (23%; 95% CI, 8–50%)YesNoYes
TUBGCP64 (31%; 95% CI, 13–58%)NoNoNo
4qGain4
PDGFRA3 (23%; 95% CI, 8–50%)YesYesYes
KITa6 (46%; 95% CI, 23–71%)YesYesYes
5qGain100
DIAPH1a,c3 (23%; 95% CI, 8–50%)YesNoYes
FAT23 (23%; 95% CI, 8–50%)YesNoYes
PCDHB83 (23%; 95% CI, 8–50%)NoNoNo
TCOF13 (23%; 95% CI, 8–50%)NoNoNo
YIPF53 (23%; 95% CI, 8–50%)NoNoNo
C5orf654 (31%; 95% CI, 13–58%)NoNoNo
CDHR24 (31%; 95% CI, 13–58%)NoNoYes
F124 (31%; 95% CI, 13–58%)NoNoNo
FLT4a4 (31%; 95% CI, 13–58%)YesYesYes

  • ↵aProtein expressions were evaluated immunohistochemically and correlated with risk factors.

  • ↵bPotential interaction.

  • ↵cPotential interaction.