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. 2016 Oct 25;7(48):78226–78241. doi: 10.18632/oncotarget.12909

Table 1. Genomic alterations in the Hedgehog pathways genes detected in 19 of 186 GIST patients by the FoundationOne® assays.

Patient Hh Pathway Gene Alteration Foundation Medicine Category Allelic Frequency Genomic Alteration Depth of NGS Coverage GIST Driver Gene (s) KIT/PDGFRΑ Exon(s) GIST Driver Gene Alteration(s)
1 PTCH1 E44G VUS 0.88 missense 478 KIT 11 W557_V559>C
1 PTCH1 S827G VUS 0.89 missense 714 KIT 11 W557_V559>C
2 PTCH1 E44G VUS 0.85 missense 506 KIT 11, 17 K550_K558del, D820Y
3 PTCH1 R1239Q VUS 0.51 missense 480 SDHA - R171H, R451C
3 PTCH1 E44del VUS 0.33 inframe indel 621 SDHA - R171H, R451C
4 PTCH1 V1418I VUS 0.51 missense 349 KIT 11, 13 W557_K558del, V654A
5 PTCH1 W1339_R1345del likely deleterious 0.16 inframe indel 535 KIT 11 W557_K558del
5 PTCH1 E44G VUS 0.51 missense 359 KIT 11 W557_K558del
6 PTCH1 PTCH1_C9orf153_truncation likely deleterious truncation NF1 - V1146I
7 PTCH1 S181* likely deleterious 0.42 nonsense 553 KIT 11 V560D
8 PTCH2 S1189T VUS 0.61 missense 345 KIT 11, 14 W557_K558del, T670I
9 PTCH2 A531V VUS 0.46 missense 362 KIT 11, 13 W557_K558>Q, V654A
7 PTCH2 P881Q VUS 0.11 missense 338 KIT 11 V560D
10 SMO G16_L17insL VUS 0.21 inframe indel 439 KIT 9 S501_A502insAY
11 SMO R671W VUS 0.51 missense 414 KIT 11 V560E
12 SMO R726Q VUS 0.89 missense 310 KIT 11, 17 V560_E561>E, D820V, Y823D
13 SMO V54M VUS 0.53 missense 131 PDGFRΑ 18 D842V
14 SUFU A425V VUS 0.05 missense 618 WT -
15 SUFU R362C VUS 0.5 missense 479 WT -
16 GLI1 R293C VUS 0.46 missense 428 WT -
15 GLI1 A745V VUS 0.49 missense 475 WT -
17 GLI1 splice site 913-1G>A VUS 0.38 splicing 519 KIT 11 W557_K558del
18 GLI1 G274C VUS 0.52 missense 923 KIT 11 D579_H580insDPTQLPYD
19 GLI1 P666S VUS 0.48 missense 705 KIT 9 Y503_F504insAY
19 GLI1 G421S VUS 0.48 missense 688 KIT 9 Y503_F504insAY

Abbreviations: NGS, next-generation sequencing; VUS, variant of unknown significance; WT, wild type tumor (lacking mutations in KIT, PDGFRA, BRAF, KRAS, HRAS, NF1, and SDH subunits).