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Table 2 Key targetable variants and associated drugs and clinical trials

From: Sequencing and curation strategies for identifying candidate glioblastoma treatments

Sample Key Therapeutic Variants Associated Drugs Clinical Trials
GBM1 PIK3R1 R562del, MET R755fs MET 11, focal gain BKM120,
GBM3 PIK3CA V344G BKM120 NCT01870726
GBM4 EGFR gain, PTEN W111C, whole arm loss Cetuximab, Everolimus NCT01238237
GBM5 PDGFRA/KIT/KDR gain Nilotinib NCT01140568 NCT01871311
GBM6 PIK3CA G542K, PTEN N59 fs, EGFR whole arm gain BKM120, Everolimus, Cetuximab NCT02142803
GBM7 SMO R421*, NF1 Q270* Vismodegib, MEK162 NCT00980343
GBM8* POLE P1505S, MSH2 splice site donor c.366 + 1G > A, High mutation burden Pembrolizumab, Nivolumab NCT02337686
GBM9 EGFR gain, KDR R1022*, PIK3R1 E443del Cetuximab, ABT41, Bevacizumab, BKM120 NCT02573324
GBM10 MGMT loss, PTEN R130*, whole arm loss NF1 E1722* Temozolomide, Everolimus, MEK162 NCT01885195
GBM12 EGFR A289V, focal gain, PIK3R1 D560G BKM120, Afatanib NCT01349660 NCT01934361
GBM13 MDM2 focal gain, CDK4 focal gain, PTEN R47S RG7112/RG7388, AMG232, Palbociclib, Everolimus NCT01877382 NCT02143635 NCT01227434 NCT01870726
GBM14 EGFR A289V, focal gain, PIK3R1 W597G, PTEN whole arm loss and focal deletion BKM-120, Everolimus NCT01349660 NCT01934361 NCT01870726
GBM15 PIK3R1 T473P, EGFR whole arm gain, CDKN2A homozygous focal deletion, PTEN whole arm loss BKM-120, Cetuximab, ABT-414, Afatanib, ABBV-221, Palbociclib, Ribociclib, Everolimus NCT01339052 NCT02423525 NCT02573324 NCT02365662 NCT01227434 NCT02345824
GBM16 PTEN Y16*, EGFR focal gain, PDGFRA focal gain Everolimus, Cetuximab, ABT-414, Afatanib, ABBV-221, Nilotinib, Crenolanib NCT02423525 NCT02573324 NCT02365662 NCT02626364 NCT01140568 NCT01871311
GBM17 BRAF V600E, EGFR gain Vemurafanib, Cobimetinib, ABT414 NCT02537600 NCT02573324 NCT02423525
GBM21 EGFR R222C, focal gain, MET P791L, focal gain, PTEN whole arm loss, CDKN2A homozygous focal deletion Cetuximab, ABT-414, Afatanib, ABBV-221 Crizotinib, INC280, Everolimus, Palbociclib, Ribociclib NCT02423525 NCT02573324 NCT02365662 NCT02540161 NCT02034981 NCT02386826 NCT01227434
GBM22 PTEN V119F, whole arm loss, STAG2 focal deletion, NF1283fs, focal loss, TP53 R158H Everolimus, Olaparib, Veliparib, MEK162, Temsirolimus/Docetaxel NCT01390571 NCT02152892
GBM23 IDH1 R132H, RPTOR A578G AG-120, AG-881, BAY-1436032, Everolimus, INK128 NCT02073994 NCT02481154 NCT02746081 NCT01434602 NCT02142803
GBM24 PIK3CA R93W, EGFR whole arm amplification, MET focal gain, PTEN R335*, T277I, whole arm loss, CDKN2A homozygous focal deletion, PALB2 whole arm loss BKM-120, Cetuximab, ABT-414, Afatanib, ABBV-221, Crizotinib, INC280, Everolimus, Palbociclib, Ribociclib, Olaparib, Veliparib NCT01870726 NCT01339052 NCT02423525 NCT02573324 NCT02365662 NCT02386826 NCT01227434 NCT02345824 NCT01390571 NCT02152982
GBM25 POLA1 G1178, MSH2 splice site donor c.366 + 1G > A, TP53 R175H, G245S, PDGFRA Y375H, PDGFRA/KIT/KDR focal gain, High mutation burden Pembrolizumab, Nivolumab, Paclitaxel, Nilotinib NCT02337686 NCT02017717 NCT02379416 NCT01140568 NCT01871311
GBM26 PIK3CA R88Q, MDM2 focal gain, CDK4 focal gain, PTEN whole arm loss BKM-120, RG-7112, AMG-232, Palbociclib, Ribociclib, Everolimus NCT01249660 NCT01339052 NCT01877282 NCT01723020 NCT01390571 NCT02152982 NCT02255461
GBM27 EGFRvIII, EGFR focal gain, CDKN2A homozygous focal deletion, PTEN whole arm loss Afatnib, Rindopepimut, CAR-T, Cetuximab, ABT-414, Afatanib, Palbociclib, Ribociclib, Everolimus NCT01480479 NCT02423525 NCT02664363 NCT02573324 NCT02423525 NCT00703625 NCT01390571 NCT02152982
GBM28 PIK3R1 Q579fs, PIK3CA D939G, MET focal gain, PDGFRA focal gain, CDKN2A homozygous focal deletion, PTEN whole arm loss BKM-120, Crizotinib, INC280, Nilotinib Palbociclib, Ribociclib, Everolimus NCT01870726 NCT01339052 NCT01870726 NCT01339052 NCT02365662 NCT01140568 NCT01390571 NCT02152982
GBM29 EGFR A289V, EGFR focal gain, PTEN R130*, whole arm loss, CDKN2A homozygous focal deletion, CDK4 focal gain Cetuximab, ABT-414, Afatanib, Everolimus, Palbociclib, Ribociclib NCT02573324 NCT02423525 NCT0070362 NCT01390571 NCT02152982 NCT01390571 NCT02152982
GBM31 IDH1 R132H, TSC2 P1215fs, TP53 R175H, CDKN2A homozygous focal deletion AG-120, AG-881, BAY-1436032, Everolimus, Temsirolimus, MLN0128, Temsirolimus/Docetaxel, Palbociclib, Ribociclib NCT02073994 NCT02481154 NCT02746081 NCT002238946 NCT02142803 NCT01390571 NCT02152982
GBM32 PIK3R1 A483P, STAG2 focal deletion, PTEN M198R, whole arm loss BKM-120, Olaparib, Veliparib, Everolimus NCT01870726 NCT01390571 NCT02152982 NCT01434602
GBM33 PTEN Q97*, whole arm loss, CDKN2A focal loss Everolimus, Temsirolimus, Palbociclib, Ribociclib NCT01390571 NCT02152982
GBM34 EGFR gain, PTEN whole arm loss, TP53 C242S, V143 M, MYCN gain Cetuximab, ABT-414, Afatanib, Everolimus, Temsirolimus, Docetaxel, CP-0610, MK-8628, GSK2820151 NCT02573324 NCT02423525 NCT00703625 NCT02698176 NCT02630251 NCT01877382
GBM35 EGFR focal gain, PIK3R1 L372dup, CDKN2A homozygous loss, PTEN whole arm loss, KIT A207V Cetuximab, ABT-414, Afatanib, BKM-120 Palbociclib, Ribociclib, Everolimus, Imatinib, Nilotinib NCT02573324 NCT02423525 NCT02345824 NCT01390571 NCT02152982
GBM36 NF1 c.1062 + 1 Splice Site Donor, TP53 T211I MEK162, Temsirolimus, Docetaxel NCT00703625
  1. * Final therapeutic association performed post-mortem