Gene Detail

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Molecular Profile	Indication/Tumor Type	Response Type	Therapy Name	Approval Status	Evidence Type	Efficacy Evidence	References
ALK fusion ALK G1202R KIT amp	lung non-small cell carcinoma	predicted - resistant	Crizotinib	Case Reports/Case Series	Actionable	In a clinical study, an ALK G1202R secondary mutation as well as KIT amplification were identified in a patient with ALK fusion-positive non-small cell lung cancer with resistance to Xalkori (crizotinib) (PMID: 22277784).	22277784
KIT wild-type	Advanced Solid Tumor	sensitive	PLX9486	Preclinical - Cell culture	Actionable	In a preclinical study, PLX9486 treatment inhibited proliferation of ligand-stimulated cells expressing wild-type KIT in culture (PMID: 30523507).	30523507
KIT wild-type	acute megakaryocytic leukemia	decreased response	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, KIT wild-type megakaryocytic leukemia cells were less sensitive to Ayvakit (avapritinib) compared to cells harboring KIT mutations in culture (PMID: 29093181).	29093181
KIT wild-type	acute myeloid leukemia	sensitive	BPR1J373	Preclinical - Cell culture	Actionable	In a preclinical study, an acute myeloid leukemia cell line harboring KIT wild-type was sensitive to BPR1J373 in culture, demonstrating apoptotic induction and inhibition of cell proliferation (PMID: 27512117).	27512117
KIT positive	prostate neuroendocrine neoplasm	no benefit	Imatinib	Preclinical	Actionable	In a preclinical study, a prostate neuroendocrine tumor mouse model expressing Kit did not respond to Gleevec (imatinib), a result of impaired signaling of the Kit pathway (PMID: 27980106).	27980106
KIT positive	germ cell cancer	no benefit	Imatinib	Phase II	Actionable	In a small Phase II study, 6 patients with KIT-positive refractory germ cell tumors treated with Gleevec (imatinib) experienced no significant antitumor activity (PMID: 16462496).	16462496
KIT positive	gastrointestinal stromal tumor	sensitive	Imatinib	FDA approved	Actionable	In a Phase II trial that supported FDA approval, treatment with Gleevec (imatinib) resulted in an overall response rate of 38% (56/147) and a median duration of response of 13 weeks in patients with metastatic or unresectable KIT-positive GIST (PMID: 12374669).	12374669 detail...
KIT positive	breast cancer	predicted - sensitive	Imatinib + Letrozole	Phase 0	Actionable	In a pilot trial, Gleevec (imatinib mesylate) and Femara (letrozole) combination treatment resulted in clinical partial response in 90% (9/10) and stable disease in 10% (1/10) of the evaluable patients with invasive hormone-sensitive breast cancer, 8 of the 13 enrolled patients had KIT-positive tumors (PMID: 18248884).	18248884
KIT over exp	seminoma	sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) in conjunction with third-line chemotherapy resulted in a complete response in a patient with stage IV chemoresistant pure seminoma with KIT overexpression (PMID: 18751412).	18751412
KIT over exp	Advanced Solid Tumor	sensitive	Derazantinib	Preclinical - Cell culture	Actionable	In a preclinical study, Derazantinib (ARQ 087) inhibited growth of transformed cells overexpressing Kit in culture (PMID: 27627808).	27627808
KIT V560del KIT over exp	thymic carcinoma	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case report, a patient with metastatic thymic carcinoma harboring KIT V560del with KIT over expression initially demonstrated stable disease and reduction in metastatic lesions following treatment with Gleevec (imatinib), but progressed after 6 months (PMID: 15201427).	15201427
KIT W557R	melanoma	predicted - sensitive	Nilotinib	Case Reports/Case Series	Actionable	In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including a melanoma patient harboring KIT W557R demonstrating a partial response and progression free survival of 35.4 months and overall survival of 35.4 months (PMID: 28327988).	28327988
KIT W557R KIT L576P	melanoma	predicted - sensitive	Nilotinib	Case Reports/Case Series	Actionable	In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including a melanoma patient co-harboring KIT L576P and KIT W557R demonstrating a partial response and a progression free survival of 5.3 months and overall survival of 14.7 months when treated with Tasigna (nilotinib) (PMID: 28327988).	28327988
KIT M541L	chronic leukemia	sensitive	Imatinib	Phase I	Actionable	In Phase I trials, KIT M541L has been associated with response to Gleevec (imatinib) in chronic eosinophilic leukemia, NOS (PMID: 25015329) and mastocytosis (PMID: 18795925).	25015329 18795925
KIT mutant	melanoma	sensitive	Nilotinib	Phase II	Actionable	In a Phase II trial, Tasigna (nilotinib) treatment in patients with melanoma harboring KIT mutations resulted in an overall response rate of 26.2% (11/42), which included 11 patients with a partial response, a median duration of response of 7.1 months, and an overall survival of 18 months (PMID: 28327988; NCT01028222).	28327988
KIT mutant	melanoma	sensitive	Nilotinib	Phase II	Actionable	In a Phase II trial, Tasigna (nilotinib) treatment resulted in complete response in 4% (1/25), durable partial response in 16% (4/25), and stable disease in 56% (14/25) of melanoma patients harboring KIT mutations (PMID: 28843487; NCT01168050).	28843487
KIT mutant	gastrointestinal stromal tumor	not applicable	N/A	Clinical Study	Diagnostic	KIT mutations are used in the diagnosis of gastrointestinal stromal tumors (PMID: 25193432, PMID: 26276366, PMID: 25729899).	25193432 26276366 25729899
KIT mutant	gastrointestinal stromal tumor	sensitive	Imatinib + Infigratinib	Preclinical - Pdx	Actionable	In a preclinical study, Truseltiq (infigratinib) and Gleevec (imatinib) combination treatment demonstrated enhanced antitumor activity in patient derived xenograft models of gastrointestinal stromal tumor harboring KIT mutations (PMID: 25673643).	25673643
KIT mutant	gastrointestinal stromal tumor	predicted - sensitive	Avapritinib	Phase I	Actionable	In a Phase I (NAVIGATOR) trial, Ayvakit (avapritinib) treatment resulted in an objective response rate of 13% (7/52, 7 partial responses) and a disease control rate of 63% (33/52) in patients with KIT-mutant gastrointestinal stromal tumor (The CTOS 2018 Annual Meeting, Nov 14-17, Rome Italy, Paper 012 3027631; NCT02508532).	detail...
KIT mutant	melanoma	predicted - sensitive	Ripretinib	Phase I	Actionable	In a Phase I trial, Qinlock (ripretinib) treatment demonstrated manageable safety and preliminary efficacy in patients with KIT-mutated melanoma, and led to an objective response rate of 23% (6/26, 1 complete and 5 partial responses), a median progression-free survival of 7.3 months, and a median duration of response of 9.1 months (PMID: 35753087; NCT02571036).	35753087
KIT mutant	gastrointestinal stromal tumor	predicted - sensitive	Ripretinib	Phase I	Actionable	In a Phase I trial, Qinlock (ripretinib) demonstrated preliminary safety and efficacy in patients with advanced solid tumors, including KIT-mutant gastrointestinal stromal tumor (GIST), with 1 patient harboring KIT exon 11 and 17 mutations demonstrating a partial response, and 7/7 KIT-mutant GIST patients demonstrating a partial metabolic response (EORTC-NCI-AACR 2016, Abs 7LBA).	detail...
KIT mutant	gastrointestinal stromal tumor	predicted - sensitive	Ripretinib	Phase I	Actionable	In a Phase I trial, Qinlock (ripretinib) was well tolerated, resulted in an objective response in 11.3% (16/142, 16 partial responses) and stable disease in 61.3% (87/142) of patients with advanced gastrointestinal stromal tumor harboring KIT (exon 11, n=103; exon 9, n=26; other, n=6) or PDGFRA mutations (n=7), with a median progression-free survival of 5.6 months (PMID: 32804590; NCT02571036).	32804590
KIT S476I	mast-cell leukemia	predicted - sensitive	Midostaurin	Preclinical - Patient cell culture	Actionable	In a preclinical study, treatment with Rydapt (midostaurin) decreased proliferation of patient-derived neoplastic mast cells harboring KIT S476I in culture (PMID: 25209843).	25209843
KIT S476I	mast-cell leukemia	predicted - sensitive	Nilotinib	Preclinical - Patient cell culture	Actionable	In a preclinical study, treatment with Tasigna (nilotinib) decreased proliferation of patient-derived neoplastic mast cells harboring KIT S476I in culture (PMID: 25209843).	25209843
KIT W557G	extraskeletal myxoid chondrosarcoma	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment resulted in stable disease lasting at least 3 years in a patient with extraskeletal myxoid chondrosarcoma harboring KIT W557G (PMID: 34446510).	34446510
KIT W557G	Advanced Solid Tumor	sensitive	Imatinib	Preclinical	Actionable	In a preclinical study, Gleevec (imatinib mesylate) inhibited Kit phosphorylation efficiently in transformed human cells over expressing KIT W557G in culture (PMID: 23567324).	23567324
KIT V559A	Advanced Solid Tumor	sensitive	Axitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT V559A in culture (PMID: 31205508).	31205508
KIT V559A	melanoma	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment in a patient with metastatic melanoma resulted in regression of the lung metastasis, which harbored KIT V559A; however, neither the primary tumor or lymph node metastasis responded, which had wild-type KIT (PMID: 19812602).	19812602
KIT V559A	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical study, KIT V559A was identified as a secondary mutation in a patient with gastrointestinal stromal tumor who developed resistance to Gleevec (imatinib) (PMID: 18488160).	18488160
KIT V559A	melanoma	predicted - sensitive	Nilotinib	Case Reports/Case Series	Actionable	In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41), including a melanoma patient harboring KIT V559A demonstrating a partial response and progression-free survival of 19.4 months and overall survival of 32.9 months (PMID: 28327988).	28327988
KIT V559D	gastrointestinal stromal tumor	sensitive	Axitinib	Preclinical - Patient cell culture	Actionable	In a preclinical study, Inlyta (axitinib) inhibited proliferation of gastrointestinal stromal tumor patient-derived primary cells harboring KIT V559D in culture (PMID: 31205508).	31205508
KIT V559D	Advanced Solid Tumor	sensitive	Axitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT V559D in culture (PMID: 31205508).	31205508
KIT V559D	Advanced Solid Tumor	sensitive	Dasatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sprycel (dasatinib) decreased KIT signaling, and inhibited growth and induced apoptosis of transformed cells expressing KIT V559D in culture (PMID: 21689725).	21689725
KIT V559D	Advanced Solid Tumor	sensitive	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Gleevec (imatinib) decreased KIT signaling, and inhibited growth and induced apoptosis of transformed cells expressing KIT V559D in culture (PMID: 21689725).	21689725
KIT V559D	Advanced Solid Tumor	sensitive	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Gleevec (imatinib) inhibited proliferation of transformed cells expressing KIT V559D in culture (PMID: 35194937).	35194937
KIT V559D	Advanced Solid Tumor	sensitive	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V559D were sensitive to Gleevec (imatinib), demonstrating decreased cell proliferation in culture and inhibition of Kit, Erk1/2, and Stat3 phosphorylation (PMID: 24205792).	24205792
KIT V559D	melanoma	predicted - sensitive	Nilotinib	Case Reports/Case Series	Actionable	In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including a melanoma patient harboring KIT V559D demonstrating a partial response and progression free survival of 28.3 months and overall survival of 28.3 months (PMID: 28327988).	28327988
KIT V559D	gastrointestinal stromal tumor	predicted - sensitive	Nintedanib	Preclinical - Patient cell culture	Actionable	In a preclinical study, Ofev (nintedanib) inhibited proliferation of patient-derived gastrointestinal stromal tumor cells harboring KIT V559D in culture (PMID: 35194937).	35194937
KIT V559D	Advanced Solid Tumor	sensitive	Nintedanib	Preclinical - Cell culture	Actionable	In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT V559D in culture (PMID: 35194937).	35194937
KIT V559D	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, cells expressing KIT V559D demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT V559D	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V559D in culture (PMID: 35194937).	35194937
KIT V559D	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V559D were sensitive to Sutent (sunitinib), demonstrating decreased cell proliferation in culture and inhibition of Kit, Erk1/2, and Stat3 phosphorylation (PMID: 24205792).	24205792
KIT V559D	Advanced Solid Tumor	sensitive	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V559D were sensitive to Flumatinib, demonstrating decreased cell proliferation in culture and inhibition of Kit, Erk1/2, and Stat3 phosphorylation (PMID: 24205792).	24205792
KIT V559D KIT D820Y	Advanced Solid Tumor	sensitive	Dasatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sprycel (dasatinib) inhibited proliferation of transformed cells expressing a KIT V559D/D820Y double mutation in culture (PMID: 17699867).	17699867
KIT V559D KIT D820Y	Advanced Solid Tumor	sensitive	Nilotinib	Preclinical - Cell culture	Actionable	In a preclinical study, Tasigna (nilotinib) inhibited proliferation of transformed cells expressing a KIT V559D/D820Y double mutation in culture, with increased potency compared to Sprycel (dasatinib) or Nexavar (sorafenib) (PMID: 17699867).	17699867
KIT V559D KIT D820Y	Advanced Solid Tumor	sensitive	Sorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, Nexavar (sorafenib) inhibited proliferation of transformed cells expressing a KIT V559D/D820Y double mutation in culture (PMID: 17699867).	17699867
KIT V559D KIT V654A	Advanced Solid Tumor	sensitive	Axitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT V654A and KIT V559D in culture (PMID: 31205508).	31205508
KIT V559D KIT V654A	Advanced Solid Tumor	predicted - sensitive	Nintedanib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V559D and V654A demonstrated decreased proliferation in response to Ofev (nintedanib) in culture, but were less sensitive to treatment compared to cells expressing either KIT V559D or KIT V654A alone (PMID: 35194937).	35194937
KIT V559D KIT V654A	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V559D and V654A in culture (PMID: 35194937).	35194937
KIT V559D KIT V654A	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V654A and KIT V559D in culture (PMID: 31205508).	31205508
KIT V559D KIT V654A	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT V559D and KIT V654A were sensitive to treatment with Sutent (sunitinib) in culture, demonstrating decreased cell proliferation (PMID: 24205792).	24205792
KIT V559D KIT V654A	Advanced Solid Tumor	resistant	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V559D and V654A were resistant to Ayvakit (avapritinib) treatment in culture (PMID: 35194937).	35194937
KIT V559D KIT V654A	Advanced Solid Tumor	resistant	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V559D and V654A were resistant to Qinlock (ripretinib) treatment in culture (PMID: 35194937).	35194937
KIT V559D KIT T670I	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V559D and T670I were resistant to Gleevec (imatinib) treatment in culture (PMID: 35194937).	35194937
KIT V559D KIT T670I	Advanced Solid Tumor	sensitive	Nintedanib	Preclinical - Cell culture	Actionable	In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT V559D and T670I in culture (PMID: 35194937).	35194937
KIT V559D KIT T670I	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT T670I and KIT V559D in culture (PMID: 31205508).	31205508
KIT V559D KIT T670I	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V559D and T670I in culture (PMID: 35194937).	35194937
KIT V559D KIT T670I	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT V559D and KIT T670I were sensitive to treatment with Sutent (sunitinib) in culture, demonstrating decreased cell proliferation (PMID: 24205792).	24205792
KIT V559D KIT T670I	Advanced Solid Tumor	resistant	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V559D and T670I were resistant to Ayvakit (avapritinib) treatment in culture (PMID: 35194937).	35194937
KIT V559D KIT T670I	Advanced Solid Tumor	resistant	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V559D and T670I were resistant to Qinlock (ripretinib) treatment in culture (PMID: 35194937).	35194937
KIT V559D KIT N822K	Advanced Solid Tumor	no benefit	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT N822K and KIT V559D were insensitive to Sutent (sunitinib) in culture (PMID: 24205792).	24205792
KIT V559D KIT N822K	Advanced Solid Tumor	sensitive	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT N822K and KIT V559D were sensitive to Flumatinib in culture, demonstrating decreased cell proliferation and inhibition of Kit, Erk 1/2, and Stat3 phosphorylation (PMID: 24205792).	24205792
KIT V559D KIT Y823D	Advanced Solid Tumor	no benefit	Imatinib	Preclinical	Actionable	In a preclinical study, Gleevec (imatinib) treatment in a mouse model with cells expressing KIT V559D and KIT Y823D resulted in shortened survival (PMID: 24205792).	24205792
KIT V559D KIT Y823D	Advanced Solid Tumor	no benefit	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT Y823D and KIT V559D were insensitive to Sutent (sunitinib) in culture and in mouse models (PMID: 24205792).	24205792
KIT V559D KIT Y823D	Advanced Solid Tumor	sensitive	Flumatinib	Preclinical	Actionable	In a preclinical study, Flumatinib treatment in transformed cells co-expressing KIT Y823D and KIT V559D resulted in decreased cell proliferation and inhibition of Kit, Erk1/2, and Stat3 phosphorylation in culture, and led to improved survival in mouse models (PMID: 24205792).	24205792
KIT V559D KIT A829P	Advanced Solid Tumor	no benefit	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT A829P and KIT V559D were insensitive to Sutent (sunitinib) in culture (PMID: 24205792).	24205792
KIT V559D KIT A829P	Advanced Solid Tumor	sensitive	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT A829P and KIT V559D were sensitive to Flumatinib in culture, demonstrating decreased cell proliferation and inhibition of Kit, Erk1/2, and Stat3 phosphorylation (PMID: 24205792).	24205792
KIT V559D KIT D820G	Advanced Solid Tumor	sensitive	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D820G and KIT V559D were sensitive to Flumatinib in culture, demonstrating decreased cell proliferation (PMID: 24205792).	24205792
CTNNB1 mut KIT V559D KIT T670I	hepatocellular carcinoma	predicted - sensitive	WNTinib	Preclinical - Cell culture	Actionable	In a preclinical study, a hepatocellular carcinoma cell line harboring a deletion of CTNNB1 exons and expressing KIT V559D and T670I was resistant to WNTinib in culture (PMID: 37537299).	37537299
KIT N505I	melanoma	predicted - sensitive	Imatinib	Preclinical	Actionable	In a preclinical study, Gleevec (imatinib) decreased phosphorylation of KIT, AKT, and ERK in melanocytes expressing KIT N505I in culture (PMID: 24317392).	24317392
KIT N505I	melanoma	sensitive	Sorafenib	Preclinical	Actionable	In a preclinical study, KIT N505I induced phosphorylation of KIT, ERK, and AKT, and was inhibited by Nexavar (sorafenib) in cell culture of melanocytes, demonstrating sensitivity of N505I to sorafenib (PMID: 24317392).	24317392
KIT D816V	hematologic cancer	sensitive	Crenolanib	Preclinical - Cell culture	Actionable	In a preclinical study, Crenolanib inhibited Kit phosphorylation and growth of transformed hematologic cells expressing KIT D816V in culture (PMID: 31309543).	31309543
KIT D816V	acute myeloid leukemia	sensitive	Crenolanib	Preclinical - Cell culture	Actionable	In a preclinical study, Crenolanib inhibited Kit phosphorylation and growth of erythroleukemia cells expressing KIT D816V in culture (PMID: 31309543).	31309543
KIT D816V	hematologic cancer	sensitive	Dasatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816V were sensitive to treatment with Sprycel (dasatinib) in culture, demonstrating reduced cell survival (PMID: 31182436).	31182436
KIT D816V	systemic mastocytosis	resistant	Imatinib	FDA contraindicated	Actionable	Gleevec (imatinib) is not indicated for patients with aggressive systemic mastocytosis harboring KIT D816V (FDA.gov).	detail...
KIT D816V	hematologic cancer	resistant	Imatinib	Preclinical	Actionable	In a preclinical study, a mouse myeloid cell line expressing KIT D816V demonstrated resistance to Gleevec (imatinib) in culture (PMID: 12481435).	12481435
KIT D816V	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Gleevec (imatinib) treatment did not inhibit proliferation of transformed cells expressing KIT D816V in culture (PMID: 30523507).	30523507
KIT D816V	Advanced Solid Tumor	resistant	Imatinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT D816V demonstrated resistance to Gleevec (imatinib mesylate) in culture (PMID: 15790786).	15790786
KIT D816V	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816V were resistant to Gleevec (imatinib) treatment in culture (PMID: 35194937).	35194937
KIT D816V	hematologic cancer	sensitive	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, Rydapt (midostaurin) inhibited Kit phosphorylation and growth of transformed hematologic cells expressing KIT D816V in culture (PMID: 31309543).	31309543
KIT D816V	acute myeloid leukemia	sensitive	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, Rydapt (midostaurin) inhibited Kit phosphorylation and growth of erythroleukemia cells expressing KIT D816V in culture (PMID: 31309543).	31309543
KIT D816V	Advanced Solid Tumor	sensitive	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816V were sensitive to treatment with Rydapt (midostaurin) in culture, demonstrating decreased cell proliferation (PMID: 31270078).	31270078
KIT D816V	Advanced Solid Tumor	decreased response	Nilotinib	Preclinical	Actionable	In a preclinical study, Tasigna (nilotinib) decreased viability of cells expressing KIT D816V in culture, but did not inhibit KIT phosphorylation or growth of KIT D816V-expressing tumors in mouse models (PMID: 20442311).	20442311
KIT D816V	Advanced Solid Tumor	resistant	Ponatinib	Preclinical	Actionable	In a preclinical study, Iclusig (ponatinib) did not inhibit growth of transformed cells expressing KIT D816V in culture (PMID: 22301675).	22301675
KIT D816V	hematologic cancer	resistant	Quizartinib	Preclinical - Cell culture	Actionable	In a preclinical study, Vanflyta (quizartinib) did not inhibit Kit phosphorylation or growth of transformed hematologic cells expressing KIT D816V in culture (PMID: 31309543).	31309543
KIT D816V	acute myeloid leukemia	resistant	Quizartinib	Preclinical - Cell culture	Actionable	In a preclinical study, Vanflyta (quizartinib) did not inhibit Kit phosphorylation or growth of erythroleukemia cells expressing KIT D816V in culture (PMID: 31309543).	31309543
KIT D816V	Advanced Solid Tumor	resistant	Quizartinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT D816V demonstrated resistance to Quizartinib in culture (PMID: 23497317).	23497317
KIT D816V	Advanced Solid Tumor	resistant	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816V were resistant to Stivarga (regorafenib) in culture (PMID: 31085175).	31085175
KIT D816V	hematologic cancer	resistant	Sorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, Nexavar (sorafenib) did not inhibit Kit phosphorylation or growth of transformed hematologic cells expressing KIT D816V in culture (PMID: 31309543).	31309543
KIT D816V	hematologic cancer	resistant	Sorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed hematopoietic cells expressing KIT D816V demonstrated resistance to Nexavar (sorafenib) in culture (PMID: 17229632).	17229632
KIT D816V	acute myeloid leukemia	resistant	Sorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, Nexavar (sorafenib) did not inhibit Kit phosphorylation or growth of erythroleukemia cells expressing KIT D816V in culture (PMID: 31309543).	31309543
KIT D816V	Advanced Solid Tumor	resistant	Sunitinib	Preclinical	Actionable	In a preclinical study, KIT D816V mutations demonstrated resistance to Sutent (sunitinib) in a biochemical assay (PMID: 19164557).	19164557
KIT D816V	Advanced Solid Tumor	resistant	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816V were resistant to treatment with Sutent (sunitinib) in culture (PMID: 24205792).	24205792
KIT D816V	Advanced Solid Tumor	resistant	Cabozantinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT D816V demonstrated resistance to Cometriq (cabozantinib) in culture (PMID: 24205792).	24205792
KIT D816V	systemic mastocytosis	not applicable	N/A	Guideline	Diagnostic	KIT D816V aids in the diagnosis of systemic mastocytosis (NCCN.org).	detail...
KIT D816V	systemic mastocytosis	not applicable	N/A	Guideline	Prognostic	KIT D816V is associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org).	detail...
KIT D816V	Advanced Solid Tumor	sensitive	PLX9486	Preclinical - Cell culture	Actionable	In a preclinical study, PLX9486 treatment inhibited proliferation of Gleevec (imatinib)-resistant transformed cells expressing KIT D816V in culture (PMID: 30523507).	30523507
KIT D816V	hematologic cancer	predicted - sensitive	Gilteritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Xospata (gilteritinib) demonstrated moderate inhibition of Kit phosphorylation and growth of transformed hematologic cells expressing KIT D816V in culture (PMID: 31309543).	31309543
KIT D816V	acute myeloid leukemia	predicted - sensitive	Gilteritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Xospata (gilteritinib) demonstrated moderate inhibition of Kit phosphorylation and growth of erythroleukemia cells expressing KIT D816V in culture (PMID: 31309543).	31309543
KIT D816V	systemic mastocytosis	sensitive	Avapritinib	Phase II	Actionable	In a Phase II trial (PATHFINDER), Ayvakit (avapritinib) treatment resulted in an objective response rate of 75% (24/32) in evaluable patients (pts) with advanced systemic mastocytosis, at 10.4 mo median follow-up, 84% (52/62) of pts remained on study, with median overall survival (OS) not reached, median time to response of 2 mo, an estimated 12 mo OS of 87%, and KIT D816V allele reduction in 53% of pts (33/62) (AACR Annual Meeting, Apr 2021, Abstract CT023; NCT03580655).	detail...
KIT D816V	hematologic cancer	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and growth of transformed hematologic cells expressing KIT D816V in culture (PMID: 31309543).	31309543
KIT D816V	mast cell neoplasm	predicted - sensitive	Avapritinib	Phase I	Actionable	In a Phase I trial, patients with either aggressive systemic mastocytosis, mast cell leukemia, or systemic mastocytosis with an associated hematologic neoplasm harboring KIT D816V demonstrated a reduction in mast cell burden and a decrease in KIT D816V allelic fraction when treated with Ayvakit (avapritinib) (ASH Annual Meeting, Dec 2017, Plenary 2).	detail...
KIT D816V	acute myeloid leukemia	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and growth of erythroleukemia cells expressing KIT D816V in culture (PMID: 31309543).	31309543
KIT D816V	Advanced Solid Tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816V were sensitive to treatment with Ayvakit (avapritinib) in culture, demonstrating decreased cell proliferation (PMID: 31270078).	31270078
KIT D816V	Advanced Solid Tumor	resistant	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816V were resistant to treatment with Flumatinib in culture (PMID: 24205792).	24205792
KIT D816V	acute myeloid leukemia	sensitive	Cytarabine + Dasatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with acute myeloid leukemia harboring KIT D816V achieved long-term remission and loss of KIT D816V following treatment with the combination of Sprycel (dasatinib) and Cytosar-U (cytarabine) (PMID: 18986703).	18986703
KIT D816V	Advanced Solid Tumor	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, Qinlock (ripretinib) inhibited proliferation of transformed cells expressing KIT D816V in culture (PMID: 31085175).	31085175
KIT D816V	Advanced Solid Tumor	predicted - sensitive	BPR1J373	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816V were sensitive to BPR1J373, demonstrating inhibition of Kit phosphorylation (PMID: 27512117).	27512117
KIT D816V	hematologic cancer	sensitive	FF-10101	Preclinical - Cell culture	Actionable	In a preclinical study, FF-10101, as compared to Quizartinib, inhibited cell proliferation of transformed 32Dcl3 murine myeloid cells expressing human Kit D816V (PMID: 29187377).	29187377
KIT V560G KIT D816V	mast-cell leukemia	sensitive	Dasatinib	Preclinical	Actionable	In a preclinical study, Sprycel (dasatinib) inhibited growth and induced apoptosis in a mast-cell leukemia cell line harboring both KIT V560G and KIT D816V in culture (PMID: 18024392).	18024392
KIT V560G KIT D816V	mast cell neoplasm	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, mast cells harboring both KIT D816V and KIT V560G were resistant to Gleevec (imatinib) in culture (PMID: 31085175).	31085175
KIT V560G KIT D816V	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560G and D816V demonstrated resistance to Gleevec (imatinib) treatment in culture (PMID: 30523507).	30523507
KIT V560G KIT D816V	mast cell neoplasm	sensitive	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, Rydapt (midostaurin) inhibited proliferation of mast cells harboring KIT D816V and KIT V560G in culture (PMID: 31085175).	31085175
KIT V560G KIT D816V	mast-cell leukemia	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, Iclusig (ponatinib) inhibited growth of a human mast cell line harboring both KIT V560G and KIT D816V in culture (PMID: 24552773).	24552773
KIT V560G KIT D816V	mast cell neoplasm	resistant	Quizartinib	Preclinical	Actionable	In a preclinical study, KIT D816V conferred resistance to Quizartinib in a mast cell line harboring both KIT V560G and KIT D816V in culture (PMID: 23497317).	23497317
KIT V560G KIT D816V	mast cell neoplasm	resistant	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, mast cells harboring both KIT D816V and KIT V560G were resistant to Stivarga (regorafenib) in culture (PMID: 31085175).	31085175
KIT V560G KIT D816V	mast cell neoplasm	resistant	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, mast cells harboring both KIT D816V and KIT V560G were resistant to Sutent (sunitinib) in culture (PMID: 31085175).	31085175
KIT V560G KIT D816V	Advanced Solid Tumor	sensitive	PLX9486	Preclinical - Cell culture	Actionable	In a preclinical study, PLX9486 treatment inhibited proliferation of Gleevec (imatinib)-resistant transformed cells expressing KIT V560G and D816V in culture (PMID: 30523507).	30523507
KIT V560G KIT D816V	mast cell neoplasm	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited proliferation of mast cells harboring KIT D816V and KIT V560G in culture (PMID: 31085175).	31085175
KIT V560G KIT D816V	mast-cell leukemia	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of a mast cell leukemia cell line harboring KIT D816V and V560G in culture (PMID: 29093181).	29093181
KIT V560G KIT D816V	mast cell neoplasm	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, Qinlock (ripretinib) inhibited proliferation of mast cells harboring KIT D816V and KIT V560G in culture, and inhibited tumor growth in cell line xenograft models (PMID: 31085175).	31085175
KIT V560G KIT D816V	mast-cell leukemia	sensitive	BPR1J373	Preclinical - Cell culture	Actionable	In a preclinical study, a mast-cell leukemia cell line simultaneously harboring KIT D816V and KIT V560G was sensitive to BPR1J373 in culture, demonstrating inhibition of Kit phosphorylation and apoptotic activity (PMID: 27512117).	27512117
KIT D816V NRAS Q61R	melanoma	no benefit	Pembrolizumab + Trametinib	Case Reports/Case Series	Actionable	In a clinical case study, a melanoma patient harboring KIT D816V and NRAS Q61R demonstrated progressive disease when treated with a combination of Mekinist (trametinib) and Keytruda (pembrolizumab) (PMID: 28514312).	28514312
KIT T670I KIT D816V	Advanced Solid Tumor	decreased response	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670I demonstrated a decreased response compared to cells expressing KIT D816V alone when treated with Rydapt (midostaurin) in culture (PMID: 31270078).	31270078
KIT T670I KIT D816V	Advanced Solid Tumor	resistant	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670I demonstrated resistance to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078).	31270078
KIT N655K KIT D816V	Advanced Solid Tumor	resistant	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT N655K demonstrated resistance to treatment with Rydapt (midostaurin) in culture compared to cells expressing KIT D816V alone (PMID: 31270078).	31270078
KIT N655K KIT D816V	Advanced Solid Tumor	predicted - sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT N655K demonstrated some sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078).	31270078
KIT Y672C KIT D816V	Advanced Solid Tumor	decreased response	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT Y672C demonstrated a decreased response compared to cells expressing KIT D816V alone when treated with Rydapt (midostaurin) in culture (PMID: 31270078).	31270078
KIT Y672C KIT D816V	Advanced Solid Tumor	predicted - sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT Y672C demonstrated some sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078).	31270078
KIT D677N KIT D816V	Advanced Solid Tumor	resistant	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT D677N demonstrated resistance to treatment with Rydapt (midostaurin) in culture compared to cells expressing KIT D816V alone (PMID: 31270078).	31270078
KIT D677N KIT D816V	Advanced Solid Tumor	predicted - sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT D677N demonstrated some sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078).	31270078
KIT V654A KIT D816V	Advanced Solid Tumor	resistant	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT V654A demonstrated resistance to treatment with Rydapt (midostaurin) in culture compared to cells expressing KIT D816V alone (PMID: 31270078).	31270078
KIT V654A KIT D816V	Advanced Solid Tumor	predicted - sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT V654A demonstrated some sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078).	31270078
KIT T670V KIT D816V	Advanced Solid Tumor	sensitive	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670V were sensitive to treatment with Rydapt (midostaurin) in culture, demonstrating decreased cell proliferation (PMID: 31270078).	31270078
KIT T670V KIT D816V	Advanced Solid Tumor	predicted - resistant	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670V demonstrated some resistance to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078).	31270078
KIT T670A KIT D816V	Advanced Solid Tumor	sensitive	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670A were sensitive to treatment with Rydapt (midostaurin) in culture, demonstrating decreased cell proliferation (PMID: 31270078).	31270078
KIT T670A KIT D816V	Advanced Solid Tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT D816V and KIT T670A demonstrated sensitivity to treatment with Ayvakit (avapritinib) in culture (PMID: 31270078).	31270078
KIT D816H	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816H were resistant to Gleevec (imatinib) treatment in culture (PMID: 35194937).	35194937
KIT D816H	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, cells expressing KIT D816H demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT D816H	Advanced Solid Tumor	resistant	Regorafenib	Preclinical	Actionable	In a preclinical study, KIT D816H demonstrated resistance to Stivarga (regorafenib) in an in vitro assay, and conferred secondary resistance to Stivarga (regorafenib) in transformed cells expressing other KIT mutations (PMID: 25239608).	25239608
KIT D816H	Advanced Solid Tumor	predicted - sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816H were more sensitive to treatment with Sutent (sunitinib) in culture compared to Gleevec (imatinib) (PMID: 24205792).	24205792
KIT D816H	Advanced Solid Tumor	predicted - sensitive	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816H were more sensitive to treatment with Flumatinib in culture compared to Gleevec (imatinib) (PMID: 24205792).	24205792
KIT W557_K558del KIT D816H	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT W557_K558del progressed after experiencing stable disease on treatment with Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT D816H (PMID: 18294292).	18294292
KIT W557_K558del KIT D816H	Advanced Solid Tumor	decreased response	Imatinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816H demonstrated a decreased response to treatment with Gleevec (imatinib) in both culture and xenograft models, resulting in only a slight decrease in tumor volume (PMID: 25239608).	25239608
KIT W557_K558del KIT D816H	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816H demonstrated sensitivity to treatment with Iclusig (ponatinib) in both culture and cell line xenograft models, resulting in reduced cell viability and tumor regression (PMID: 25239608).	25239608
KIT W557_K558del KIT D816H	Advanced Solid Tumor	decreased response	Regorafenib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816H demonstrated a decreased response to treatment with Stivarga (regorafenib) in culture (PMID: 25239608).	25239608
KIT W557_K558del KIT D816H	Advanced Solid Tumor	decreased response	Sunitinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816H demonstrated a decreased response to treatment with Sutent (sunitinib) in both culture and cell line xenograft models, resulting in only a slight decrease in tumor volume (PMID: 25239608).	25239608
KIT W557_K558del KIT D816H	Advanced Solid Tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D816H demonstrated sensitivity to Ayvakit (avapritinib) in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT W557_K558del KIT D816H	Advanced Solid Tumor	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D816H demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT W557_K558del KIT D816H	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell line xenograft	Actionable	In a preclinical study, AZD3229 inhibited growth of cells in culture and tumor growth in a cell line xenograft model of transformed cells expressing KIT W557_K558del and KIT D816H (PMID: 32350132).	32350132
KIT V560D KIT D816H	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132).	32350132
KIT V560D KIT D816H	Advanced Solid Tumor	resistant	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated resistance to Stivarga (regorafenib) in culture (PMID: 32350132).	32350132
KIT V560D KIT D816H	Advanced Solid Tumor	resistant	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132).	32350132
KIT V560D KIT D816H	Advanced Solid Tumor	decreased response	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated a decreased response to treatment with Ayvakit (avapritinib) compared to cells expressing KIT V560D alone in culture (PMID: 32350132).	32350132
KIT V560D KIT D816H	Advanced Solid Tumor	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT V560D KIT D816H	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT D816H demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT A502_Y503dup KIT D816H	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132).	32350132
KIT A502_Y503dup KIT D816H	Advanced Solid Tumor	resistant	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated resistance to Stivarga (regorafenib) in culture (PMID: 32350132).	32350132
KIT A502_Y503dup KIT D816H	Advanced Solid Tumor	resistant	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132).	32350132
KIT A502_Y503dup KIT D816H	Advanced Solid Tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated increased sensitivity to treatment with Ayvakit (avapritinib) compared to cells expressing KIT A502_Y503dup alone in culture (PMID: 32350132).	32350132
KIT A502_Y503dup KIT D816H	Advanced Solid Tumor	decreased response	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated a decreased response to treatment with Qinlock (ripretinib) compared to cells expressing KIT A502_Y503dup alone in culture (PMID: 32350132).	32350132
KIT A502_Y503dup KIT D816H	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT D816H demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT exon 11 del KIT D816H	Advanced Solid Tumor	predicted - sensitive	THE-630	Preclinical - Cell culture	Actionable	In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT D816H in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292).	detail...
KIT D816F	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816F were resistant to Gleevec (imatinib mesylate) in culture (PMID: 16397263).	16397263
KIT D816Y	mast cell neoplasm	predicted - resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) were resistant to Gleevec (imatinib) in culture (PMID: 31085175).	31085175
KIT D816Y	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816Y were resistant to Gleevec (imatinib mesylate) in culture (PMID: 16397263).	16397263
KIT D816Y	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816Y were resistant to treatment with Gleevec (imatinib) in culture (PMID: 24205792).	24205792
KIT D816Y	mast cell neoplasm	predicted - sensitive	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, Rydapt (midostaurin) inhibited proliferation of mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) in culture (PMID: 31085175).	31085175
KIT D816Y	mast cell neoplasm	predicted - resistant	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) were resistant to Stivarga (regorafenib) in culture (PMID: 31085175).	31085175
KIT D816Y	mast cell neoplasm	decreased response	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) demonstrated reduced response to growth inhibition by Sutent (sunitinib) compared to GIST cells harboring KIT exon 11 deletion in culture (PMID: 31085175).	31085175
KIT D816Y	Advanced Solid Tumor	resistant	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816Y were resistant to treatment with Sutent (sunitinib) in culture (PMID: 24205792).	24205792
KIT D816Y	mast cell neoplasm	predicted - sensitive	Avapritinib	Preclinical	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of murine mastocytoma cells harboring KIT D814Y (corresponding to human D816Y) in culture, and resulted in tumor regression in allograft animal models (PMID: 29093181).	29093181
KIT D816Y	Advanced Solid Tumor	resistant	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT D816Y were resistant to treatment with Flumatinib in culture (PMID: 24205792).	24205792
KIT D816Y	mast cell neoplasm	predicted - sensitive	Ripretinib	Preclinical	Actionable	In a preclinical study, Qinlock (ripretinib) inhibited proliferation of mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) in culture, and resulted in tumor growth inhibition in allograft models (PMID: 31085175).	31085175
KIT D820Y	melanoma	sensitive	Dasatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sprycel (dasatinib) inhibited MNK pathway activation and proliferation of melanoma cell lines harboring KIT D820Y in culture (PMID: 29035277).	29035277
KIT D820Y	melanoma	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Gleevec (imatinib mesylate) failed to inhibit MNK pathway activation and proliferation of melanoma cell lines harboring KIT D820Y in culture (PMID: 29035277).	29035277
KIT D820Y	Advanced Solid Tumor	sensitive	Nintedanib	Preclinical - Cell culture	Actionable	In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT D820Y in culture (PMID: 35194937).	35194937
KIT D820Y	melanoma	predicted - sensitive	Sorafenib	Case Reports/Case Series	Actionable	In a clinical case study, Nexavar (sorafenib) treatment resulted in stable disease with 27% reduction in target lesions at 4 weeks in a patient with anal melanoma and pulmonary metastases harboring KIT D820Y (PMID: 20372153).	20372153
KIT D820Y	melanoma	predicted - sensitive	Ripretinib	Case Reports/Case Series	Actionable	In a Phase I trial, Qinlock (ripretinib) treatment resulted in a complete response in a patient with metastatic melanoma harboring KIT D820Y (PMID: 35753087; NCT02571036).	35753087
KIT D820Y	melanoma	sensitive	SEL201	Preclinical - Cell line xenograft	Actionable	In a preclinical study, SEL201 inhibited MNK pathway signaling and growth of melanoma cell lines harboring KIT D820Y in culture, and suppressed tumor metastasis in xenograft models (PMID: 29035277).	29035277
KIT V555_L576del KIT D820G KIT D820Y	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical study, KIT D820G and KIT D820Y were identified as secondary mutations in a patient with gastrointestinal stromal tumor harboring a primary KIT V555_L576del mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160).	18488160
KIT Y568_L576delinsCV KIT D816E KIT D820Y	gastrointestinal stromal tumor	predicted - sensitive	Ripretinib	Case Reports/Case Series	Actionable	In a Phase I trial, treatment with Qinlock (ripretinib) decreased circulating tumor DNA, resulted in stable disease lasting over 21 months in a patient with gastrointestinal stromal tumor harboring a primary KIT Y568_L576delinsCV mutation and two acquired resistance mutations, KIT D816E and KIT D820Y (PMID: 31085175; NCT02571036).	31085175
KIT Y553S KIT W557_Q575del KIT D820Y	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical study, KIT D820Y was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring primary KIT W557_Q575del (reported as Q556_T574del) and KIT Y553S mutations, who developed resistance to Gleevec (imatinib) (PMID: 18488160).	18488160
KIT N822I	Advanced Solid Tumor	sensitive	Dasatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sprycel (dasatinib) inhibited growth and induced apoptosis of transformed cells expressing KIT N822I in culture (PMID: 21689725).	21689725
KIT N822I	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT N822I demonstrated resistance to Gleevec (imatinib) in culture (PMID: 21689725).	21689725
KIT V559X KIT N822I	melanoma	predicted - sensitive	Imatinib + Pembrolizumab	Case Reports/Case Series	Actionable	In a clinical case study, addition of Gleevec (imatinib) to Keytruda (pembrolizumab) in a patient with metastatic melanoma harboring an unspecified KIT V559 mutation and a KIT N822I resulted in a complete remission after 6 months and the patient stayed on therapy for 2 years (PMID: 31689840).	31689840
KIT N822K	hematologic cancer	sensitive	Crenolanib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT N822K were sensitive to treatment with Crenolanib in culture, demonstrating reduced cell survival (PMID: 31182436).	31182436
KIT N822K	hematologic cancer	sensitive	Dasatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT N822K were sensitive to treatment with Sprycel (dasatinib) in culture, demonstrating reduced cell survival (PMID: 31182436).	31182436
KIT N822K	acute myeloid leukemia	decreased response	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, acute myeloid leukemia cells harboring KIT N822K demonstrated reduced response to growth inhibition by Gleevec (imatinib) compared to GIST cells harboring KIT exon 11 deletion in culture (PMID: 31085175).	31085175
KIT N822K	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, KIT N822K was identified in the tumor of a gastrointestinal stromal tumor patient who was resistant to Gleevec (imatinib) treatment (PMID: 26316776).	26316776
KIT N822K	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT N822K were resistant to treatment with Gleevec (imatinib) in culture (PMID: 24205792).	24205792
KIT N822K	acute myeloid leukemia	sensitive	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, Rydapt (midostaurin) inhibited proliferation of acute myeloid leukemia cells harboring KIT N822K in culture (PMID: 31085175).	31085175
KIT N822K	leukemia	sensitive	Ponatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Iclusig (ponatinib) inhibited Kit signaling and viability in leukemia cells harboring KIT N822K in culture (PMID: 21482694).	21482694
KIT N822K	acute myeloid leukemia	sensitive	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, Stivarga (regorafenib) inhibited proliferation of acute myeloid leukemia cells harboring KIT N822K in culture (PMID: 31085175).	31085175
KIT N822K	acute myeloid leukemia	predicted - sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, an acute myeloid leukemia cell line harboring KIT N822K demonstrated increased sensitivity to Sutent (sunitinib) compared to cells with wild-type KIT, resulting in increased inhibition of colony formation, and induction of cell-cycle arrest, apoptosis, and autophagy in culture (PMID: 31217744).	31217744
KIT N822K	acute myeloid leukemia	predicted - sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of acute myeloid leukemia cells harboring KIT N822K in culture (PMID: 31085175).	31085175
KIT N822K	Advanced Solid Tumor	predicted - sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT N822K were more sensitive to treatment with Sutent (sunitinib) in culture compared to Gleevec (imatinib), demonstrating decreased cell proliferation (PMID: 24205792).	24205792
KIT N822K	thymus squamous cell carcinoma	predicted - sensitive	Avapritinib	Case Reports/Case Series	Actionable	In a clinical case study, Ayvakit (avapritinib) resulted in stable disease in a patient with thymus squamous cell carcinoma harboring KIT N822K (PMID: 35820244).	35820244
KIT N822K	acute myeloid leukemia	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of acute myeloid leukemia cells harboring KIT N822K in culture (PMID: 29093181).	29093181
KIT N822K	mucosal melanoma	predicted - sensitive	Avapritinib	Case Reports/Case Series	Actionable	In a clinical case study, Ayvakit (avapritinib) resulted in a partial response in extracranial lesions and stable disease in the central nervous lesions that lasted for 11 months in a patient with mucosal melanoma harboring KIT N822K (PMID: 35820244).	35820244
KIT N822K	Advanced Solid Tumor	predicted - sensitive	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT N822K were more sensitive to treatment with Flumatinib in culture compared to Gleevec (imatinib), demonstrating decreased cell proliferation (PMID: 24205792).	24205792
KIT N822K	acute myeloid leukemia	sensitive	Ripretinib	Preclinical - Pdx	Actionable	In a preclinical study, Qinlock (ripretinib) induced tumor regression in a patient-derived xenograft (PDX) model of acute myeloid leukemia harboring KIT N822K (Cancer Res 2015;75(15 Suppl):Abstract nr 2690).	detail...
KIT N822K	acute myeloid leukemia	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, Qinlock (ripretinib) inhibited proliferation of acute myeloid leukemia cells harboring KIT N822K in culture (PMID: 31085175).	31085175
KIT N822K	acute myeloid leukemia	sensitive	BPR1J373	Preclinical - Cell line xenograft	Actionable	In a preclinical study, an acute myeloid leukemia cell line harboring KIT N822K demonstrated sensitivity to treatment with BPR1J373, showing inhibition of Kit phosphorylation and apoptotic induction in culture, and tumor regression in xenograft models (PMID: 27512117).	27512117
KIT N822K	acute myeloid leukemia	decreased response	RMC-4550	Preclinical - Cell culture	Actionable	In a preclinical study, acute myeloid leukemia cell lines harboring KIT N822K demonstrated decreased sensitivity to RMC-4550 treatment compared to cell lines harboring FLT3 ITD in culture (PMID: 37992684).	37992684
KIT N822K	acute myeloid leukemia	sensitive	Trametinib + Venetoclax	Preclinical - Cell culture	Actionable	In a preclinical study, the combination of Venclexta (venetoclax) and Mekinist (trametinib) synergistically inhibited proliferation in acute myeloid leukemia cell lines harboring KIT N822K in culture (PMID: 37992684).	37992684
KIT N822K	acute myeloid leukemia	sensitive	RMC-4550 + Venetoclax	Preclinical - Cell line xenograft	Actionable	In a preclinical study, the combination of RMC-4550 and Venclexta (venetoclax) synergistically inhibited viability and induced apoptosis in an acute myeloid leukemia cell line harboring KIT N822K in culture, and reduced tumor burden and improved survival in a cell line xenograft model (PMID: 37992684).	37992684
KIT W557_K558del KIT N822K	Advanced Solid Tumor	resistant	Imatinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT N822K were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT N822K	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT N822K demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT N822K	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT N822K were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT N822K	Advanced Solid Tumor	conflicting	Regorafenib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT N822K were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT N822K	Advanced Solid Tumor	conflicting	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT N822K was sensitive to treatment with Stivarga (regorafenib), demonstrating decreased cell viability in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT N822K	Advanced Solid Tumor	resistant	Sunitinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT N822K were resistant to Sutent (sunitinb) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT N822K	Advanced Solid Tumor	resistant	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT N822K demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT N822K	gastrointestinal stromal tumor	predicted - resistant	Binimetinib + Imatinib	Case Reports/Case Series	Actionable	In a Phase II trial, KIT N822K was identified as a secondary resistance mutation in a patient with a gastrointestinal stromal tumor harboring a primary KIT W557_K558del mutation who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) (PMID: 35041493; NCT01991379).	35041493
KIT W557_K558del KIT N822K	Advanced Solid Tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del and KIT N822K in culture, but was less effective compared to other treatments (PMID: 32350132).	32350132
KIT W557_K558del KIT N822K	Advanced Solid Tumor	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT N822K demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT W557_K558del KIT N822K	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT N822K demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT A502_Y503dup KIT N822K	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical study, KIT N822K was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring a primary KIT A502_Y503dup mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160).	18488160
KIT W557_K558delinsCE KIT N822K	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical study, KIT N822K was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring a primary KIT W557_K558delinsCE mutation, who developed resistance to Gleevec (imatinib mesylate) (PMID: 18488160).	18488160
KIT V569_L576del KIT V654A KIT N822K	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical study, KIT V654A and KIT N822K were identified as secondary mutations in a patient with gastrointestinal stromal tumor harboring a primary KIT V569_L576del mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160).	18488160
KIT K642E KIT N822K	gastrointestinal stromal tumor	sensitive	Regorafenib	Preclinical - Pdx	Actionable	In a preclinical study, Stivarga (regorafenib) suppressed tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT K642E and KIT N822K, but was less potent in comparison to treatment with AZD3229 (PMID: 32350132).	32350132
KIT K642E KIT N822K	gastrointestinal stromal tumor	sensitive	AZD3229	Preclinical - Pdx	Actionable	In a preclinical study, AZD3229 inhibited Kit signaling and tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT K642E and KIT N822K (PMID: 32350132).	32350132
KIT exon 11 del KIT N822K	Advanced Solid Tumor	predicted - sensitive	THE-630	Preclinical - Cell culture	Actionable	In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT N822K in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292).	detail...
KIT V560D KIT D820G KIT N822K KIT Y870*	gastrointestinal stromal tumor	predicted - resistant	Binimetinib + Imatinib	Case Reports/Case Series	Actionable	In a Phase II trial, KIT N822K and KIT D820G were identified as secondary resistance mutations in a patient with a gastrointestinal stromal tumor harboring primary KIT Y870* and V560D mutations who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) treatment (PMID: 35041493; NCT01991379).	35041493
KIT V560del KIT N822K	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT V560del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT N822K (PMID: 18294292).	18294292
KIT V555_D572del KIT N822K	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT V555_D572del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT N822K (PMID: 18294292).	18294292
KIT Y823D	Advanced Solid Tumor	sensitive	Motesanib Diphosphate	Preclinical - Cell culture	Actionable	In a preclinical study, Motesanib (AMG 706) inhibited KIT phosphorylation and growth of cells expressing KIT Y823D in culture (PMID: 20633291).	20633291
KIT Y823D	Advanced Solid Tumor	sensitive	Nintedanib	Preclinical - Cell culture	Actionable	In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT Y823D in culture (PMID: 35194937).	35194937
KIT Y823D	melanoma	predicted - sensitive	Ripretinib	Case Reports/Case Series	Actionable	In a Phase I trial, Qinlock (ripretinib) treatment resulted in a complete response in a patient with metastatic melanoma harboring KIT Y823D (PMID: 35753087; NCT02571036).	35753087
KIT W557_K558del KIT Y823D	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, two patients with gastrointestinal stromal tumors harboring KIT W557_K558del progressed following an initial response to Gleevec (imatinib), and were found to have acquired the secondary resistance mutation KIT Y823D in one lesion (PMID: 18294292).	18294292
KIT W557_K558del KIT Y823D	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT Y823D demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT Y823D	gastrointestinal stromal tumor	sensitive	Ponatinib	Preclinical - Pdx & cell culture	Actionable	In a preclinical study, a patient derived GIST cell line co-harboring KIT W557_K558del and KIT Y823D demonstrated sensitivity to Iclusig (ponatinib) in a PDX model, resulting in complete tumor regression (PMID: 25239608).	25239608
KIT W557_K558del KIT Y823D	gastrointestinal stromal tumor	sensitive	Regorafenib	Preclinical - Pdx	Actionable	In a preclinical study, Stivarga (regorafenib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_K558del and KIT Y823D (PMID: 32350132).	32350132
KIT W557_K558del KIT Y823D	Advanced Solid Tumor	predicted - sensitive	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT Y823D demonstrated sensitivity to treatment with Stivarga (regorafenib), but was decreased compared to cells expressing KIT W557_K558del alone in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT Y823D	Advanced Solid Tumor	resistant	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT Y823D demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT Y823D	gastrointestinal stromal tumor	sensitive	PLX9486	Preclinical - Pdx	Actionable	In a preclinical study, PLX9486 treatment decreased Mapk phosphorylation, inhibited proliferation, and reduced tumor growth and induced regression in a Gleevec (imatinib)-resistant patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_K558del and Y823D (PMID: 30523507).	30523507
KIT W557_K558del KIT Y823D	gastrointestinal stromal tumor	sensitive	Avapritinib	Preclinical - Pdx	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and resulted in tumor regression in patient-derived xenograft models of Gleevec (imatinib mesylate)-resistant gastrointestinal stromal tumor harboring KIT W557_K558del and Y823D (PMID: 29093181).	29093181
KIT W557_K558del KIT Y823D	Advanced Solid Tumor	decreased response	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT Y823D demonstrated a decreased response to treatment with Ayvakit (avapritinib) compared to cells expressing KIT W557_K558del alone in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT Y823D	gastrointestinal stromal tumor	sensitive	Ripretinib	Preclinical - Pdx	Actionable	In a preclinical study, Qinlock (ripretinib) induced tumor regression in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_K558del and KIT Y823D (PMID: 31085175).	31085175
KIT W557_K558del KIT Y823D	Advanced Solid Tumor	decreased response	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT Y823D demonstrated a decreased response to treatment with Qinlock (ripretinib) compared to cells expressing KIT W557_K558del alone in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT Y823D	gastrointestinal stromal tumor	sensitive	AZD3229	Preclinical - Pdx	Actionable	In a preclinical study, AZD3229 inhibited Kit signaling and tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_K558del and KIT Y823D (PMID: 32350132).	32350132
KIT W557_K558del KIT Y823D	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT Y823D demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT exon 11 del KIT Y823D	Advanced Solid Tumor	predicted - sensitive	THE-630	Preclinical - Cell culture	Actionable	In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT Y823D in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292).	detail...
KIT P551I KIT M552_V559del KIT Y823D	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT M552_V559del and KIT P551I progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT Y823D (PMID: 18294292).	18294292
KIT A829P	Advanced Solid Tumor	sensitive	Axitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT A829P in culture, however, with decreased potency compared to its potency against other KIT variants (PMID: 31205508).	31205508
KIT A829P	melanoma	sensitive	Dasatinib	Preclinical	Actionable	In a preclinical study, Sprycel (dasatinib) demonstrated efficacy by inhibiting proliferation of cultured melanoma cells expressing KIT A829P (PMID: 23582185, PMID: 25594040).	23582185 25594040
KIT A829P	melanoma	resistant	Imatinib	Preclinical	Actionable	In a preclinical study, melanoma cells expressing KIT A829P demonstrated resistance to treatment with Gleevec (imatinib mesylate) (PMID: 23582185, PMID: 25594040).	23582185 25594040
KIT A829P	melanoma	sensitive	Nilotinib	Preclinical	Actionable	In a preclinical study, Tasigna (nilotinib) demonstrated efficacy by inhibiting proliferation of cultured melanoma cells expressing KIT A829P (PMID: 23582185, PMID: 25594040).	23582185 25594040
KIT A829P	Advanced Solid Tumor	sensitive	Nintedanib	Preclinical - Cell culture	Actionable	In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT A829P in culture (PMID: 35194937).	35194937
KIT A829P	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, cells expressing KIT A829P demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT A829P	melanoma	resistant	Sunitinib	Preclinical	Actionable	In a preclinical study, melanoma cells expressing KIT A829P demonstrated resistance to treatment with Sutent (sunitinib) (PMID: 23582185, PMID: 25594040).	23582185 25594040
KIT V560_Y578del KIT A829P	gastrointestinal stromal tumor	decreased response	Sunitinib	Preclinical	Actionable	In a preclinical study, a patient derived GIST cell line co-harboring KIT V560_Y578del and KIT A829P demonstrated a decreased response to treatment with Sutent (sunitinib) (PMID: 25239608).	25239608
KIT W557_K558del KIT A829P	Advanced Solid Tumor	resistant	Imatinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT A829P were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT A829P	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT A829P demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT A829P	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT A829P were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT A829P	Advanced Solid Tumor	conflicting	Regorafenib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT A829P were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT A829P	Advanced Solid Tumor	conflicting	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT A829P were sensitive to treatment with Stivarga (regorafenib), but demonstrated a decreased response compared to cells expressing KIT W557_K558del alone in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT A829P	Advanced Solid Tumor	resistant	Sunitinib	Preclinical - Biochemical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT A829P were resistant to Sutent (sunitinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT A829P	Advanced Solid Tumor	resistant	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT A829P demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT A829P	Advanced Solid Tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del and KIT A829P in culture, but was less effective compared to other treatments (PMID: 32350132).	32350132
KIT W557_K558del KIT A829P	Advanced Solid Tumor	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT A829P demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT W557_K558del KIT A829P	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT A829P demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT exon11 KIT A829P	gastrointestinal stromal tumor	sensitive	Imatinib + MK2206	Preclinical - Cell culture	Actionable	In a preclinical study, the combination of Gleevec (imatinib) and MK2206 demonstrated synergy in inhibiting growth of a Gleevec (imatinib)-resistant gastrointestinal stromal tumor cell line harboring a KIT exon 11 mutation and KIT A829P in culture (PMID: 27370604).	27370604
KIT V559_G565del KIT V654A KIT A829P	gastrointestinal stromal tumor	predicted - sensitive	Ripretinib	Case Reports/Case Series	Actionable	In a Phase I trial, treatment with Qinlock (ripretinib) decreased circulating tumor DNA, resulted in stable disease lasting over 26 months in a patient with gastrointestinal stromal tumor harboring a primary KIT V559_G565del mutation and two acquired resistance mutations, KIT V654A and KIT A829P (PMID: 31085175; NCT02571036).	31085175
KIT exon 11 del KIT A829P	Advanced Solid Tumor	predicted - sensitive	THE-630	Preclinical - Cell culture	Actionable	In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT A829P in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292).	detail...
KIT V560_D572del KIT A829P	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT KIT V560_D572del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT A829P (PMID: 18294292).	18294292
KIT H697Y	Advanced Solid Tumor	decreased response	Imatinib	Preclinical	Actionable	In a preclinical study, transformed cell lines overexpressing KIT H697Y demonstrated reduced sensitivity to Gleevec (imatinib mesylate)-induced growth inhibition in culture (PMID: 19861435).	19861435
KIT H697Y	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical	Actionable	In a preclinical study, Sutent (sunitinib) inhibited growth of transformed cell lines overexpressing KIT H697Y in culture (PMID: 19861435).	19861435
KIT T670I	Advanced Solid Tumor	sensitive	Axitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT T670I in culture, however, with decreased potency compared to its potency against other KIT variants (PMID: 31205508).	31205508
KIT T670I	melanoma	resistant	Dasatinib	Preclinical	Actionable	In a preclinical study, melanoma cells expressing KIT T670I demonstrated resistance to treatment with Sprycel (dasatinib) (PMID: 23582185, PMID: 25594040).	23582185 25594040
KIT T670I	melanoma	resistant	Imatinib	Preclinical	Actionable	In a preclinical study, melanoma cells expressing KIT T670I demonstrated resistance to treatment with Gleevec (imatinib mesylate) (PMID: 23582185, PMID: 25594040).	23582185 25594040
KIT T670I	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case report, a patient with a gastrointestinal stromal tumor developed disease progression while being treated with Gleevec (imatinib), demonstrating a KIT T670I mutation in the progressive lesion (PMID: 15236194).	15236194
KIT T670I	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT T670I demonstrated resistance to Gleevec (imatinib) in culture (PMID: 35194937).	35194937
KIT T670I	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT T670I were resistant to treatment with Gleevec (imatinib) in culture (PMID: 33212994).	33212994
KIT T670I	melanoma	resistant	Nilotinib	Preclinical	Actionable	In a preclinical study, melanoma cells expressing KIT T670I demonstrated resistance to treatment with Tasigna (nilotinib) (PMID: 23582185, PMID: 25594040).	23582185 25594040
KIT T670I	Advanced Solid Tumor	sensitive	Nintedanib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT T670I in culture, and suppressed tumor growth in cell line xenograft models (PMID: 35194937).	35194937
KIT T670I	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, cells expressing KIT T670I demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT T670I	Advanced Solid Tumor	sensitive	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT T670I demonstrated sensitivity to Stivarga (regorafenib) treatment in culture, resulting in reduced cell viability (PMID: 33212994).	33212994
KIT T670I	melanoma	sensitive	Sunitinib	Preclinical	Actionable	In a preclinical study, Sutent (sunitinib) demonstrated efficacy by inhibiting proliferation of cultured melanoma cells expressing KIT T670I (PMID: 23582185, PMID: 25594040).	23582185 25594040
KIT T670I	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT T670I in culture (PMID: 31205508).	31205508
KIT T670I	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT T670I in culture (PMID: 35194937).	35194937
KIT T670I	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT T670I demonstrated sensitivity to Sutent (sunitinib) treatment in culture, resulting in reduced cell viability (PMID: 33212994).	33212994
KIT T670I	Advanced Solid Tumor	sensitive	Cabozantinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT T670I demonstrated sensitivity to Cometriq (Cabometyx, cabozantinib) treatment in culture, resulting in reduced cell viability (PMID: 33212994).	33212994
KIT T670I	gastrointestinal stromal tumor	predicted - resistant	Avapritinib	Phase I	Actionable	In a Phase I trial, patients with gastrointestinal stromal tumors harboring either KIT V654A or KIT T670I demonstrated decreased overall response rate (0%, 0/25 vs. 26%, 22/84) and increased progressive disease rate (72% vs 23%) compared to those without either KIT mutation when treated with Ayvakit (avapritinib) (PMID: 31270078; NCT02508532).	31270078
KIT W557_K558del KIT T670I	Advanced Solid Tumor	resistant	Dasatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing a KIT W557_K558del/T670I double mutation demonstrated resistance to Sprycel (dasatinib) in culture (PMID: 17699867).	17699867
KIT W557_K558del KIT T670I	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT W557_K558del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT T670I (PMID: 18294292).	18294292
KIT W557_K558del KIT T670I	Advanced Solid Tumor	no benefit	Imatinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT T670I demonstrated no response to treatment with Gleevec (imatinib) in both culture and xenograft models (PMID: 25239608).	25239608
KIT W557_K558del KIT T670I	Advanced Solid Tumor	resistant	Nilotinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing a KIT W557_K558del/T670I double mutation demonstrated resistance to Tasigna (nilotinib) in culture (PMID: 17699867).	17699867
KIT W557_K558del KIT T670I	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT T670I demonstrated sensitivity to treatment with Iclusig (ponatinib) in both culture and cell line xenograft models, resulting in reduced cell viability and decreased tumor volume (PMID: 25239608).	25239608
KIT W557_K558del KIT T670I	Advanced Solid Tumor	decreased response	Regorafenib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT T670I demonstrated a decreased response to treatment with Stivarga (regorafenib) compared to cells expressing KIT W557_K558del alone in culture (PMID: 25239608).	25239608
KIT W557_K558del KIT T670I	Advanced Solid Tumor	decreased response	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT T670I demonstrated a decreased response to treatment with Stivarga (regorafenib) compared to cells expressing KIT W557_K558del alone in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT T670I	Advanced Solid Tumor	sensitive	Sorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, Nexavar (sorafenib) inhibited proliferation and induced apoptosis of transformed cells expressing a KIT W557_K558del/T670I double mutation in culture (PMID: 17699867).	17699867
KIT W557_K558del KIT T670I	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT T670I demonstrated sensitivity to treatment with Sutent (sunitinib) in both culture and cell line xenograft models, resulting in reduced cell viability, decreased tumor volume, and tumor regression (PMID: 25239608).	25239608
KIT W557_K558del KIT T670I	Advanced Solid Tumor	resistant	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT T670I demonstrated resistance to Ayvakit (avapritinib) in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT T670I	Advanced Solid Tumor	decreased response	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT T670I demonstrated a decreased response to treatment with Qinlock (ripretinib) compared to cells expressing KIT W557_K558del alone in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT T670I	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT T670I demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT V560_Y578del KIT T670I	gastrointestinal stromal tumor	sensitive	Axitinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and downstream signaling, reduced proliferation, and induced cell-cycle arrest in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT T670I in culture, and inhibited tumor growth in xenograft models (PMID: 31205508).	31205508
KIT V560_Y578del KIT T670I	gastrointestinal stromal tumor	sensitive	Nintedanib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Ofev (nintedanib) decreased Kit phosphorylation and downstream signaling, induced cell-cycle arrest and apoptosis, and inhibited proliferation of a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and T670I in culture, and suppressed tumor growth in cell line xenograft models (PMID: 35194937).	35194937
KIT V560_Y578del KIT T670I	gastrointestinal stromal tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, a patient derived GIST cell line co-harboring KIT V560_Y578del and KIT T670I demonstrated sensitivity to treatment with Iclusig (ponatinib) (PMID: 25239608).	25239608
KIT V560_Y578del KIT T670I	gastrointestinal stromal tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, a patient-derived gastrointestinal stromal tumor (GIST) cell line co-harboring KIT V560_Y578del and KIT T670I demonstrated sensitivity to treatment with Sutent (sunitinib) (PMID: 25239608).	25239608
KIT V560_Y578del KIT T670I	gastrointestinal stromal tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT T670I in culture (PMID: 31205508).	31205508
KIT V560_Y578del KIT T670I	gastrointestinal stromal tumor	sensitive	Copanlisib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Aliqopa (copanlisib) inhibited cell growth and PI3K signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT T670I in culture, and inhibited tumor growth in cell line xenograft models (PMID: 32371592).	32371592
KIT V560_Y578del KIT T670I	gastrointestinal stromal tumor	predicted - sensitive	Copanlisib + Imatinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, the combination of Aliqopa (copanlisib) and Gleevec (imatinib) demonstrated enhanced cell growth inhibition but did not result in increased apoptosis of gastrointestinal stromal tumor cells harboring KIT V560_Y578del and KIT T670I in culture, and did not result in increased tumor growth inhibition compared to Aliqopa (copanlisib) alone in cell line xenograft models (PMID: 32371592).	32371592
KIT V560D KIT T670I	Advanced Solid Tumor	sensitive	Motesanib Diphosphate	Preclinical - Cell culture	Actionable	In a preclinical study, Motesanib (AMG 706) inhibited KIT phosphorylation and growth of cells expressing a KIT V560D/T670I double mutation in culture (PMID: 20633291).	20633291
KIT V560D KIT T670I	Advanced Solid Tumor	resistant	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT V560D and KIT T670I were resistant to Flumatinib in culture (PMID: 24205792).	24205792
KIT exon11 KIT T670I	gastrointestinal stromal tumor	resistant	Imatinib	Preclinical - Pdx	Actionable	In a preclinical study, Gleevec (imatinib mesylate) did not inhibit Kit, Erk signaling and resulted in limited (53.9%) tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT exon 11 mutation (K550_splice) and KIT T670I, which was established from a patient who did not respond to Gleevec (imatinib mesylate) (PMID: 29100343).	29100343
KIT exon11 KIT T670I	gastrointestinal stromal tumor	predicted - sensitive	Regorafenib	Preclinical - Pdx	Actionable	In a preclinical study, Stivarga (regorafenib) inhibited Kit signaling, resulted in tumor growth inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT exon 11 mutation (K550_splice) and KIT T670I, which was established from a patient who did not respond to Gleevec (imatinib mesylate) (PMID: 29100343).	29100343
KIT exon11 KIT T670I	gastrointestinal stromal tumor	predicted - sensitive	Sunitinib	Preclinical - Pdx	Actionable	In a preclinical study, Sutent (sunitinib) inhibited Kit signaling, resulted in 86.7% tumor growth inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT exon 11 mutation (K550_splice) and KIT T670I, which was established from a patient who did not respond to Gleevec (imatinib mesylate) (PMID: 29100343).	29100343
KIT exon 11 del KIT T670I	gastrointestinal stromal tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT T670I were resistant to Gleevec (imatinib) in culture (PMID: 31085175).	31085175
KIT exon 11 del KIT T670I	gastrointestinal stromal tumor	sensitive	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, Rydapt (midostaurin) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT T670I in culture (PMID: 31085175).	31085175
KIT exon 11 del KIT T670I	gastrointestinal stromal tumor	sensitive	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, Stivarga (regorafenib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT T670I in culture (PMID: 31085175).	31085175
KIT exon 11 del KIT T670I	gastrointestinal stromal tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT T670I in culture (PMID: 31085175).	31085175
KIT exon 11 del KIT T670I	gastrointestinal stromal tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT T670I in culture (PMID: 31085175).	31085175
KIT exon 11 del KIT T670I	gastrointestinal stromal tumor	decreased response	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT T670I demonstrated reduced response to growth inhibition by Qinlock (ripretinib) compared to cells harboring KIT exon 11 deletion alone in culture (PMID: 31085175).	31085175
KIT exon 11 del KIT T670I	Advanced Solid Tumor	predicted - sensitive	THE-630	Preclinical - Cell culture	Actionable	In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT T670I in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292).	detail...
KIT N655K	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with gastrointestinal stromal tumor (GIST) harboring a germline KIT N655K mutation, associated with hereditary GIST syndrome, demonstrated slow disease progression for 12 months while on treatment with Gleevec (imatinib) at 400mg/d, and upon disease progression following surgery and 15 months of Sutent (sunitinib) treatment, was rechallenged with Gleevec (imatinib) at 800mg/d and remained stable for a further 9 months (PMID: 33212994).	33212994
KIT N655K	Advanced Solid Tumor	predicted - sensitive	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT N655K demonstrated some sensitivity to Gleevec (imatinib) treatment in culture, resulting in reduced cell viability at high treatment dosages (PMID: 33212994).	33212994
KIT N655K	Advanced Solid Tumor	decreased response	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT N655K demonstrated a reduced response to Stivarga (regorafenib) treatment compared to cells expressing KIT T670I in culture (PMID: 33212994).	33212994
KIT N655K	Advanced Solid Tumor	decreased response	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT N655K demonstrated a reduced response to Sutent (sunitinib) treatment compared to cells expressing KIT T670I in culture (PMID: 33212994).	33212994
KIT N655K	Advanced Solid Tumor	decreased response	Cabozantinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT N655K demonstrated a reduced response to Cometriq (Cabometyx, cabozantinib) treatment compared to cells expressing KIT T670I in culture (PMID: 33212994).	33212994
KIT N655K	Advanced Solid Tumor	predicted - sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT N655K demonstrated some sensitivity to Ayvakit (avapritinib) in culture, but were less sensitive than cells expressing KIT W557_K558del (PMID: 33212994).	33212994
KIT N655K	Advanced Solid Tumor	predicted - sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT N655K demonstrated some sensitivity to Qinlock (ripretinib) treatment in culture, but were less sensitive than cells expressing KIT W557_K558del (PMID: 33212994).	33212994
KIT V654A	Advanced Solid Tumor	sensitive	Axitinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT V654A in culture, and inhibited tumor growth in xenograft models (PMID: 31205508).	31205508
KIT V654A	Advanced Solid Tumor	resistant	Imatinib	Preclinical	Actionable	In a preclinical study, cells expressing KIT V654A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 16751810).	16751810
KIT V654A	Advanced Solid Tumor	sensitive	Nintedanib	Preclinical - Cell culture	Actionable	In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT V654A in culture (PMID: 35194937).	35194937
KIT V654A	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, cells expressing KIT V654A demonstrated some sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT V654A	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V654A in culture (PMID: 31205508).	31205508
KIT V654A	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V654A in culture (PMID: 35194937).	35194937
KIT V654A	gastrointestinal stromal tumor	predicted - resistant	Avapritinib	Phase I	Actionable	In a Phase I trial, patients with gastrointestinal stromal tumors harboring either KIT V654A or KIT T670I demonstrated decreased overall response rate (0%, 0/25 vs. 26%, 22/84) and increased progressive disease rate (72% vs 23%) compared to those without either KIT mutation when treated with Ayvakit (avapritinib) (PMID: 31270078; NCT02508532).	31270078
KIT W557_K558del KIT V654A	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, three patients with gastrointestinal stromal tumors harboring KIT W557_K558del progressed following an initial response to Gleevec (imatinib), and were found to have acquired the secondary resistance mutation KIT V654A (PMID: 18294292).	18294292
KIT W557_K558del KIT V654A	Advanced Solid Tumor	no benefit	Imatinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT V654A demonstrated no response to treatment with Gleevec (imatinib) in both culture and xenograft models (PMID: 25239608).	25239608
KIT W557_K558del KIT V654A	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT V654A demonstrated sensitivity to treatment with Iclusig (ponatinib) in both culture and cell line xenograft models, resulting in reduced cell viability and decreased tumor volume (PMID: 25239608).	25239608
KIT W557_K558del KIT V654A	Advanced Solid Tumor	resistant	Regorafenib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT V654A demonstrated resistance to treatment with Stivarga (regorafenib) in culture (PMID: 25239608).	25239608
KIT W557_K558del KIT V654A	gastrointestinal stromal tumor	sensitive	Sunitinib	Preclinical - Pdx	Actionable	In a preclinical study, Sutent (sunitinib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_K558del and KIT V654A, which was established from a patient who did not respond to Gleevec (imatinib) treatment (PMID: 32350132).	32350132
KIT W557_K558del KIT V654A	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT V654A demonstrated sensitivity to treatment with Sutent (sunitinib) in both culture and cell line xenograft models, resulting in reduced cell viability, decreased tumor volume, and tumor regression (PMID: 25239608).	25239608
KIT W557_K558del KIT V654A	gastrointestinal stromal tumor	sensitive	Avapritinib	Preclinical - Pdx	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and resulted in tumor regression in patient-derived xenograft models of Gleevec (imatinib)-resistant gastrointestinal stromal tumor harboring KIT W557_K558del and V654A (PMID: 29093181).	29093181
KIT W557_K558del KIT V654A	Advanced Solid Tumor	resistant	Avapritinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Ayvakit (avapritinib) failed to inhibit cell growth or KIT signaling in culture and did not suppress tumor growth in cell line xenograft models of transformed cells expressing KIT W557_K558del and KIT V654A (PMID: 32350132).	32350132
KIT W557_K558del KIT V654A	Advanced Solid Tumor	resistant	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, Qinlock (ripretinib) failed to reduce cell viability and inhibit KIT signaling in transformed cells expressing KIT W557_K558del and KIT V654A in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT V654A	gastrointestinal stromal tumor	sensitive	AZD3229	Preclinical - Pdx	Actionable	In a preclinical study, AZD3229 inhibited Kit signaling and tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_K558del and KIT V654A, which was established from a patient who did not respond to Gleevec (imatinib) treatment (PMID: 32350132).	32350132
KIT W557_K558del KIT V654A	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell line xenograft	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT V654A demonstrated sensitivity to treatment with AZD3229 in both culture and cell line xenograft models, resulting in reduced cell viability, decreased KIT signaling, and tumor regression (PMID: 32350132).	32350132
KIT V560_L576del KIT V654A	gastrointestinal stromal tumor	resistant	Imatinib	Preclinical - Pdx	Actionable	In a preclinical study, a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT V560_L576del and V654A with overexpression of GPR20 (IHC score 3+) demonstrated resistance to treatment with Gleevec (imatinib) (PMID: 33579785).	33579785
KIT V560_L576del KIT V654A	gastrointestinal stromal tumor	sensitive	Regorafenib	Preclinical - Pdx	Actionable	In a preclinical study, Stivarga (regorafenib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT V560_L576del and V654A with overexpression of GPR20 (IHC score 3+) (PMID: 33579785).	33579785
KIT V560_L576del KIT V654A	gastrointestinal stromal tumor	sensitive	Sunitinib	Preclinical	Actionable	In a preclinical study, a patient derived GIST cell line co-harboring KIT V560_L576del and KIT V654A demonstrated sensitivity to treatment with Sutent (sunitinib) (PMID: 25239608).	25239608
KIT V560_L576del KIT V654A	gastrointestinal stromal tumor	sensitive	Sunitinib	Preclinical - Pdx	Actionable	In a preclinical study, Sutent (sunitinib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT V560_L576del and V654A with overexpression of GPR20 (IHC score 3+) (PMID: 33579785).	33579785
KIT V560_L576del KIT V654A	gastrointestinal stromal tumor	sensitive	HQP1351	Preclinical - Cell line xenograft	Actionable	In a preclinical study, HQP1351 treatment inhibited Kit downstream signalling, resulted in cell cycle arrest and apoptosis in a Gleevec (imatinib)-resistant gastrointestinal stromal tumor (GIST) cell line harboring KIT V560_L576del and V654A in culture, and inhibited tumor growth in a cell line xenograft model (PMID: 31673329).	31673329
KIT exon11 KIT V654A	gastrointestinal stromal tumor	sensitive	Copanlisib	Preclinical - Cell culture	Actionable	In a preclinical study, Aliqopa (copanlisib) inhibited cell growth and PI3K signaling in a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT V654A in culture (PMID: 32371592).	32371592
KIT exon11 KIT V654A	gastrointestinal stromal tumor	sensitive	Imatinib + MK2206	Preclinical - Cell culture	Actionable	In a preclinical study, the combination of Gleevec (imatinib) and MK2206 demonstrated synergy in inhibiting growth of a Gleevec (imatinib)-resistant gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion mutation and KIT V654A in culture (PMID: 27370604).	27370604
KIT exon11 KIT V654A	gastrointestinal stromal tumor	predicted - sensitive	Copanlisib + Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, the combination of Aliqopa (copanlisib) and Gleevec (imatinib) demonstrated enhanced cell growth inhibition but did not result in increased apoptosis of gastrointestinal stromal tumor cells harboring a KIT exon 11 deletion and KIT V654A compared to either agent alone in culture (PMID: 32371592).	32371592
KIT V560D KIT V654A	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132).	32350132
KIT V560D KIT V654A	Advanced Solid Tumor	sensitive	Motesanib Diphosphate	Preclinical - Cell culture	Actionable	In a preclinical study, Motesanib (AMG 706) inhibited KIT phosphorylation and growth of cells expressing a KIT V560D/V654A double mutation in culture (PMID: 20633291).	20633291
KIT V560D KIT V654A	Advanced Solid Tumor	resistant	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated resistance to treatment with Stivarga (regorafenib) in culture (PMID: 32350132).	32350132
KIT V560D KIT V654A	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated sensitivity to Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT V560D KIT V654A	Advanced Solid Tumor	decreased response	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT V560D and KIT V654A demonstrated a decreased response to treatment with Ayvakit (avapritinib) compared to cells expressing KIT V560D alone in culture (PMID: 31270078).	31270078
KIT V560D KIT V654A	Advanced Solid Tumor	resistant	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells co-expressing KIT V560D and KIT V654A were resistant to Flumatinib in culture (PMID: 24205792).	24205792
KIT V560D KIT V654A	Advanced Solid Tumor	decreased response	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated a decreased response to treatment with Qinlock (ripretinib) compared to cells expressing KIT V560D alone in culture (PMID: 32350132).	32350132
KIT V560D KIT V654A	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT V654A demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT V560del KIT V654A	Advanced Solid Tumor	sensitive	Nilotinib	Preclinical - Cell culture	Actionable	In a preclinical study, Tasigna (nilotinib) inhibited proliferation of transformed cells expressing a KIT V560del/V654A double mutation in culture (PMID: 17699867).	17699867
KIT K558_V560del KIT V654A	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical study, KIT V654A was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring a primary KIT K558_V560del mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160).	18488160
KIT V560_Y578del KIT V654A	gastrointestinal stromal tumor	resistant	Imatinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Gleevec (imatinib) failed to decrease cell viability and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT V654A in culture, and did suppress tumor growth in cell line xenograft models (PMID: 32350132).	32350132
KIT V560_Y578del KIT V654A	gastrointestinal stromal tumor	resistant	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT V654A demonstrated resistance to Stivarga (regorafenib) in culture (PMID: 32350132).	32350132
KIT V560_Y578del KIT V654A	gastrointestinal stromal tumor	sensitive	Sunitinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Sutent (sunitinib) inhibited growth of a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT V654A in culture, and inhibited tumor growth in cell line xenograft models (PMID: 32350132).	32350132
KIT V560_Y578del KIT V654A	gastrointestinal stromal tumor	resistant	Avapritinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Ayvakit (avapritinib) failed to decrease cell viability and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT V654A in culture, and did suppress tumor growth in cell line xenograft models (PMID: 32350132).	32350132
KIT V560_Y578del KIT V654A	gastrointestinal stromal tumor	predicted - resistant	Ripretinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Qinlock (ripretinib) resulted in slight decreases in cell viability and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del and KIT V654A in culture, but failed to suppress tumor growth in cell line xenograft models (PMID: 32350132).	32350132
KIT V560_Y578del KIT V654A	gastrointestinal stromal tumor	sensitive	AZD3229	Preclinical - Cell line xenograft	Actionable	In a preclinical study, AZD3229 suppressed Kit signaling and cell growth in culture, and inhibited tumor growth in a cell line xenograft model of gastrointestinal stromal tumor harboring KIT V560_Y578del and KIT V654A (PMID: 32350132).	32350132
KIT A502_Y503dup KIT V654A	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132).	32350132
KIT A502_Y503dup KIT V654A	Advanced Solid Tumor	resistant	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated resistance to Stivarga (regorafenib) in culture (PMID: 32350132).	32350132
KIT A502_Y503dup KIT V654A	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated sensitivity to Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT A502_Y503dup KIT V654A	Advanced Solid Tumor	resistant	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated resistance to Ayvakit (avapritinib) in culture (PMID: 32350132).	32350132
KIT A502_Y503dup KIT V654A	Advanced Solid Tumor	decreased response	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated a decreased response to treatment with Qinlock (ripretinib) compared to cells expressing KIT A502_Y503dup alone in culture (PMID: 32350132).	32350132
KIT A502_Y503dup KIT V654A	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup and KIT V654A demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT exon 11 del KIT V654A	Advanced Solid Tumor	predicted - sensitive	THE-630	Preclinical - Cell culture	Actionable	In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT V654A in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292).	detail...
KIT exon 9 ins KIT V654A	Advanced Solid Tumor	predicted - sensitive	THE-630	Preclinical - Cell culture	Actionable	In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 9 insertion and KIT V654A in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292).	detail...
KIT E554_K558del KIT V654A	gastrointestinal stromal tumor	predicted - resistant	Binimetinib + Imatinib	Case Reports/Case Series	Actionable	In a Phase II trial, KIT V654A was identified as a secondary resistance mutation in a patient with a gastrointestinal stromal tumor harboring a primary KIT E554_K558del mutation who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) treatment (PMID: 35041493; NCT01991379).	35041493
KIT Q556_V559delinsHT KIT V654A	gastrointestinal stromal tumor	predicted - resistant	Binimetinib + Imatinib	Case Reports/Case Series	Actionable	In a Phase II trial, KIT V654A was identified as a secondary resistance mutation in a patient with a gastrointestinal stromal tumor harboring a primary KIT Q556_V559delinsHT mutation who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) (PMID: 35041493; NCT01991379).	35041493
KIT Q556_I571del KIT V654A	gastrointestinal stromal tumor	predicted - resistant	Binimetinib + Imatinib	Case Reports/Case Series	Actionable	In a Phase II trial, KIT V654A was identified as a secondary mutation in a patient with a gastrointestinal stromal tumor harboring a primary KIT Q556_I571del mutation who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) (PMID: 35041493; NCT01991379).	35041493
KIT E554_Y570del KIT V654A	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT E554_Y570del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT V654A (PMID: 18294292).	18294292
KIT W557_E561del KIT V654A	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, two patients with gastrointestinal stromal tumors harboring KIT W557_E561del progressed following an initial response to Gleevec (imatinib), and were found to have acquired the secondary resistance mutation KIT V654A (PMID: 18294292).	18294292
KIT M552_D572del KIT V654A	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, two patients with gastrointestinal stromal tumors harboring KIT M552_D572del progressed following an initial response to Gleevec (imatinib), and were found to have acquired the secondary resistance mutation KIT V654A (PMID: 18294292).	18294292
KIT V559_T574del KIT V654A	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT V559_T574del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT V654A in one lesion (PMID: 18294292).	18294292
KIT Q556_W557del KIT V654A	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT Q556_W557del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT V654A (PMID: 18294292).	18294292
KIT K642E	gastrointestinal stromal tumor	sensitive	Axitinib	Preclinical - Patient cell culture	Actionable	In a preclinical study, Inlyta (axitinib) inhibited phosphorylation of KIT and downstream signaling, reduced proliferation, and induced cell-cycle arrest in a cultured gastrointestinal stromal tumor (GIST) cell line harboring KIT K642E, and inhibited proliferation of primary GIST cells harboring KIT K642E in culture (PMID: 31205508).	31205508
KIT K642E	vulvar melanoma	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment resulted in partial response in a patient with recurrent vulval melanoma harboring KIT K642E, with reduction of tumor mass by 35% at 12 weeks (PMID: 20372153).	20372153
KIT K642E	melanoma	predicted - sensitive	Nilotinib	Case Reports/Case Series	Actionable	In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including a melanoma patient harboring KIT K642E demonstrating a partial response and a progression free survival of 5.8 months and overall survival of 18.6 months (PMID: 28327988).	28327988
KIT K642E	gastrointestinal stromal tumor	sensitive	Nintedanib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Ofev (nintedanib) decreased Kit phosphorylation and downstream signaling, induced cell-cycle arrest and apoptosis, and inhibited proliferation of a gastrointestinal stromal tumor cell line and patient-derived cells harboring KIT K642E in culture, and suppressed tumor growth in cell line xenograft models (PMID: 35194937).	35194937
KIT K642E	gastrointestinal stromal tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, a patient derived GIST cell line harboring KIT K642E demonstrated sensitivity to Iclusig (ponatinib) in culture (PMID: 25239608).	25239608
KIT K642E	gastrointestinal stromal tumor	sensitive	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, Stivarga (regorafenib) inhibited proliferation of gastrointestinal stromal tumor cells harboring KIT K642E in culture (PMID: 21170960).	21170960
KIT K642E	gastrointestinal stromal tumor	sensitive	Sunitinib	Preclinical - Patient cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of a gastrointestinal stromal tumor (GIST) cell line and primary GIST patient-derived cells harboring KIT K642E in culture (PMID: 31205508).	31205508
KIT K642E	gastrointestinal stromal tumor	sensitive	Imatinib + Infigratinib	Preclinical - Cell culture	Actionable	In a preclinical study, Truseltiq (infigratinib) and Gleevec (imatinib) combination treatment demonstrated enhanced antiproliferative activity in gastrointestinal stromal tumor cells harboring KIT K642E in culture (PMID: 25673643).	25673643
KIT K642E	gastrointestinal stromal tumor	predicted - sensitive	IDRX-42	Preclinical - Pdx	Actionable	In a preclinical study, IDRX-42 treatment inhibited mitosis and decreased tumor growth in a cell line xenograft model and a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT K642E (Cancer Res 2022;82(12_Suppl):Abstract nr 2666).	detail...
KIT K642E KIT C809G KIT N822H	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, an acquired KIT C809G mutation was identified in a gastrointestinal stromal tumor (GIST) patient harboring KIT K642E and KIT N822H at the time of progression on Gleevec (imatinib) (PMID: 16954519).	16954519
KIT Y578C	Advanced Solid Tumor	sensitive	Imatinib	Preclinical	Actionable	In a preclinical study, Gleevec (imatinib mesylate) inhibited Kit phosphorylation efficiently in transformed human cells over expressing KIT Y578C in culture (PMID: 23567324).	23567324
KIT W557C KIT Y578C	Advanced Solid Tumor	sensitive	Imatinib	Preclinical	Actionable	In a preclinical study, Gleevec (imatinib mesylate) inhibited Kit phosphorylation efficiently in transformed human cells over expressing both KIT W557C and KIT Y578C in culture (PMID: 23567324).	23567324
KIT act mut	skin melanoma	sensitive	Dasatinib	Guideline	Actionable	Sprycel (dasatinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).	detail...
KIT act mut	skin melanoma	sensitive	Imatinib	Guideline	Actionable	Gleevec (imatinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).	detail...
KIT act mut	skin melanoma	sensitive	Nilotinib	Guideline	Actionable	Tasigna (nilotinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).	detail...
KIT act mut	gastrointestinal stromal tumor	sensitive	Pexidartinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, PLX3397 inhibited growth of gastrointestinal stromal tumor cell lines harboring KIT activating mutations in culture and in cell line xenograft models (PMID: 24583793).	24583793
KIT act mut	gastrointestinal stromal tumor	sensitive	Cabozantinib	Preclinical	Actionable	In a preclinical study, Cometriq (cabozantinib) decreased cell viability in imatinib-sensitive and resistant gastrointestinal stromal tumor (GIST) cell lines harboring KIT activating mutations in culture, and induced tumor regression in KIT-mutant GIST mouse models (PMID: 25836719).	25836719
KIT act mut	gastrointestinal stromal tumor	not applicable	N/A	Guideline	Diagnostic	KIT activating mutations aid the diagnosis of gastrointestinal stromal tumor (NCCN.org).	detail...
KIT act mut	Advanced Solid Tumor	sensitive	PLX9486	Preclinical	Actionable	In a preclinical study, PLX9486 inhibited KIT mutations, including exon 17 mutations, and demonstrated in vivo and in vitro activity against tumors harboring KIT exon 17 mutations (Cancer Res February 1, 2016 76; IA32).	detail...
KIT act mut	skin melanoma	sensitive	Ripretinib	Guideline	Actionable	Qinlock (ripretinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with KIT activating mutations (NCCN.org).	detail...
KIT L576P	Advanced Solid Tumor	sensitive	Axitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT L576P in culture (PMID: 31205508).	31205508
KIT L576P	melanoma	sensitive	Dasatinib	Case Reports/Case Series	Actionable	In a clinical study, two patients with melanoma harboring KIT L576P, one who had progressed on Gleevec (imatinib), demonstrated initial clinical benefit following treatment with Sprycel (dasatinib); however, one patient progressed after 3 months, and the other patient progressed after 4 months of treatment (PMID: 19671763).	19671763
KIT L576P	melanoma	sensitive	Dasatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sprycel (dasatinib) inhibited MNK pathway activation and proliferation of melanoma cell lines harboring KIT L576P in culture (PMID: 29035277).	29035277
KIT L576P	melanoma	unknown	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment resulted in initial tumor reduction, but was followed by disease progression at all tumor sites in a patient with metastasized labial melanoma harboring KIT L576P (PMID: 20372153).	20372153
KIT L576P	Advanced Solid Tumor	sensitive	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Gleevec (imatinib) inhibited proliferation of transformed cells expressing KIT L576P in culture (PMID: 35194937).	35194937
KIT L576P	melanoma	predicted - sensitive	Nilotinib	Case Reports/Case Series	Actionable	In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including three melanoma patients harboring KIT L576P demonstrating a partial response (PMID: 28327988).	28327988
KIT L576P	Advanced Solid Tumor	sensitive	Nintedanib	Preclinical - Cell culture	Actionable	In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT L576P in culture (PMID: 35194937).	35194937
KIT L576P	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT L576P in culture (PMID: 35194937).	35194937
KIT L576P	melanoma	predicted - sensitive	Ripretinib	Case Reports/Case Series	Actionable	In a Phase I trial, Qinlock (ripretinib) treatment resulted in a partial response in 3 of 4 patients with metastatic melanoma harboring KIT L576P (PMID: 35753087; NCT02571036).	35753087
KIT L576P	melanoma	predicted - sensitive	Bevacizumab + Sorafenib	Case Reports/Case Series	Actionable	In a Phase I trial, a melanoma patient harboring KIT L576P demonstrated sensitivity to the combination treatment of Nexavar (sorafenib) and Avastin (bevacizumab), resulting in a partial response for 8 months (PMID: 25363205).	25363205
KIT L576P	melanoma	sensitive	SEL201	Preclinical - Cell line xenograft	Actionable	In a preclinical study, SEL201 inhibited MNK pathway signaling and growth of melanoma cells harboring KIT L576P in culture, and suppressed tumor metastasis in xenograft models (PMID: 29035277).	29035277
KIT K509I	systemic mastocytosis	sensitive	Dasatinib	Preclinical - Patient cell culture	Actionable	In a preclinical study, Sprycel (dasatinib) treatment inhibited growth and induced apoptosis of primary bone marrow mononuclear cells derived from patients with aggressive systemic mastocytosis harboring KIT K509I in culture (PMID: 25139846).	25139846
KIT K509I	systemic mastocytosis	sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment resulted in symptom and enzymatic improvements in 2 patients with aggressive systemic mastocytosis harboring KIT K509I, with 1 patient achieving a major response/complete remission, and inhibited growth of primary bone marrow mononuclear cells derived from both patients in culture (PMID: 25139846).	25139846
KIT K509I	mastocytosis	sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment resulted in symptom improvements, liver size reduction, and decrease of enzymatic markers in a patient with familial mastocytosis harboring a germline KIT K509I mutation and inhibited growth of white blood cells derived from the patient in culture (PMID: 16183119).	16183119
KIT K509I	gastrointestinal stromal tumor	no benefit	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment resulted in stable disease at 9 months in a patient with advanced gastrointestinal stromal tumor harboring a germline KIT K509I mutation, which was later discontinued due to adverse effects and lack of response (PMID: 23610110).	23610110
KIT K509I	systemic mastocytosis	predicted - sensitive	Midostaurin	Preclinical - Patient cell culture	Actionable	In a preclinical study, Rydapt (midostaurin) treatment inhibited growth but did not induce apoptosis in primary bone marrow mononuclear cells derived from patients with aggressive systemic mastocytosis harboring KIT K509I in culture (PMID: 25139846).	25139846
KIT V560G	mast cell neoplasm	sensitive	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Gleevec (imatinib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175).	31085175
KIT V560G	mast cell neoplasm	sensitive	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, Rydapt (midostaurin) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175).	31085175
KIT V560G	Advanced Solid Tumor	sensitive	Nilotinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT V560G demonstrated inhibition of cell proliferation and tumor regression both in culture and in vivo when treated with Tasigna (nilotinib) (PMID: 20442311).	20442311
KIT V560G	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, cells expressing KIT V560G demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT V560G	mast cell neoplasm	sensitive	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, Stivarga (regorafenib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175).	31085175
KIT V560G	mast cell neoplasm	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175).	31085175
KIT V560G	mast cell neoplasm	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175).	31085175
KIT V560G	mast-cell leukemia	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of mast cell leukemia cells harboring KIT V560G in culture (PMID: 29093181).	29093181
KIT V560G	mast cell neoplasm	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, Qinlock (ripretinib) inhibited proliferation of mast cells harboring KIT V560G in culture (PMID: 31085175).	31085175
KIT V560D	Advanced Solid Tumor	sensitive	Dasatinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT V560D were sensitive to Sprycel (dasatinib) in culture (PMID: 16397263).	16397263
KIT V560D	Advanced Solid Tumor	sensitive	Imatinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to treatment with Gleevec (imatinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT V560D	Advanced Solid Tumor	sensitive	Motesanib Diphosphate	Preclinical - Cell culture	Actionable	In a preclinical study, Motesanib (AMG 706) inhibited KIT phosphorylation and growth of cells expressing KIT V560D in culture (PMID: 20633291).	20633291
KIT V560D	melanoma	predicted - sensitive	Nilotinib	Case Reports/Case Series	Actionable	In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including a melanoma patient harboring KIT V560D demonstrating a partial response and progression free survival of 8.6 months and overall survival of 23.5 months (PMID: 28327988).	28327988
KIT V560D	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT V560D	Advanced Solid Tumor	sensitive	Regorafenib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to treatment with Stivarga (regorafineb) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT V560D	Advanced Solid Tumor	sensitive	Sorafenib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT V560D were sensitive to Nexavar (sorafenib) in culture (PMID: 22665524).	22665524
KIT V560D	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT V560D	gastrointestinal stromal tumor	predicted - sensitive	Binimetinib + Imatinib	Case Reports/Case Series	Actionable	In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment had manageable toxicity and resulted in a 95% pathological response and 6% RECIST response in a patient with gastrointestinal stromal tumor of the stomach harboring KIT V560D (PMID: 35041493; NCT01991379).	35041493
KIT V560D	gastrointestinal stromal tumor	predicted - sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D were sensitive to treatment with Ayvakit (avapritinib) in culture, demonstrating decreased cell growth (PMID: 31270078).	31270078
KIT V560D	Advanced Solid Tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased cell viability in transformed cells expressing KIT V560D in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132).	32350132
KIT V560D	Advanced Solid Tumor	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT V560D	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT V560D KIT D820A	gastrointestinal stromal tumor	resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical study, KIT D820A was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring a primary KIT V560D mutation, who developed resistance to Gleevec (imatinib mesylate) (PMID: 16954519).	16954519
KIT V560D KIT D820A	gastrointestinal stromal tumor	resistant	Imatinib	Preclinical	Actionable	In a preclinical study, a gastrointestinal stromal tumor cell line harboring KIT V560D and KIT D820A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 16954519).	16954519
KIT V560D KIT D820A	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132).	32350132
KIT V560D KIT D820A	Advanced Solid Tumor	sensitive	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, Stivarga (regorafenib) treatment resulted in decreased viability of transformed cells expressing KIT V560D and KIT D820A in culture, but was less effective compared to other treatments (PMID: 32350132).	32350132
KIT V560D KIT D820A	gastrointestinal stromal tumor	resistant	Sunitinib	Preclinical	Actionable	In a preclinical study, a gastrointestinal stromal tumor cell line harboring KIT V560D and KIT D820A demonstrated resistance to Sutent (sunitinib) in culture (PMID: 18955458).	18955458
KIT V560D KIT D820A	Advanced Solid Tumor	resistant	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132).	32350132
KIT V560D KIT D820A	gastrointestinal stromal tumor	predicted - sensitive	Imatinib + Infigratinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, combination treatment with Gleevec (imatinib) and Truseltiq (infigratinib) treatment resulted in tumor shrinkage in a gastrointestinal stromal tumor cell line xenograft model harboring KIT V560D and KIT D820A (PMID: 35625872).	35625872
KIT V560D KIT D820A	Advanced Solid Tumor	decreased response	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated a decreased response to treatment with Ayvakit (avapritinib) compared to cells expressing KIT V560D alone in culture (PMID: 32350132).	32350132
KIT V560D KIT D820A	Advanced Solid Tumor	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT V560D KIT D820A	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V560D and KIT D820A demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT V560D KIT D579G KIT D816N	melanoma	predicted - sensitive	Ripretinib	Case Reports/Case Series	Actionable	In a Phase I trial, Qinlock (ripretinib) treatment resulted in a partial response in a patient with metastatic melanoma harboring KIT D579G, V560D, and D816N (PMID: 35753087; NCT02571036).	35753087
KIT D579del	thymic carcinoma	sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with thymic carcinoma harboring KIT D579del achieved disease stabilization following treatment with Gleevec (imatinib) (PMID: 24419427).	24419427
KIT P551_V555del	gastrointestinal stromal tumor	sensitive	Sorafenib	Preclinical - Pdx	Actionable	In a preclinical study, Nexavar (sorafenib) inhibited Erk signaling, induced apoptosis, resulted in tumor growth inhibition in patient derived xenograft models of gastrointestinal stromal tumor harboring KIT P551_V555del (PMID: 19139124).	19139124
KIT W557_K558del	Advanced Solid Tumor	sensitive	Dasatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sprycel (dasatinib) inhibited growth and induced apoptosis of transformed cells expressing KIT W557_K558del in culture (PMID: 17699867).	17699867
KIT W557_K558del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment resulted in 4 partial responses and 1 stable disease in 5 patients with gastrointestinal stromal tumors harboring KIT W557_K558del, with progression-free survival ranging from 12.2 to 36.5 months and overall survival ranging from 22.7 to 67.9 months (PMID: 18294292).	18294292
KIT W557_K558del	Advanced Solid Tumor	sensitive	Imatinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to treatment with Gleevec (imatinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT W557_K558del	Advanced Solid Tumor	sensitive	Nilotinib	Preclinical - Cell culture	Actionable	In a preclinical study, Tasigna (nilotinib) inhibited growth of transformed cells expressing KIT W557_K558del in culture (PMID: 17699867).	17699867
KIT W557_K558del	gastrointestinal stromal tumor	sensitive	PD-0325901	Preclinical - Cell culture	Actionable	In a preclinical study, PD-0325901 treatment inhibited Erk phosphorylation and decreased expression of ETV1 and CXCR4 in gastrointestinal stromal tumor cells harboring KIT W557_K558del (PMID: 26936919).	26936919
KIT W557_K558del	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to treatment with Iclusig (ponatinib) in both culture and cell line xenograft models, resulting in reduced cell viability and near complete tumor regression (PMID: 25239608).	25239608
KIT W557_K558del	Advanced Solid Tumor	sensitive	Regorafenib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to treatment with Stivarga (regorafineb) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT W557_K558del	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT W557_K558del	Advanced Solid Tumor	sensitive	Cabozantinib	Preclinical - Cell culture	Actionable	In a preclinical study, Cometriq (Cabometyx, cabozantinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del in culture (PMID: 33212994).	33212994
KIT W557_K558del	Advanced Solid Tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132).	32350132
KIT W557_K558del	Advanced Solid Tumor	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, Qinlock (ripretinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132).	32350132
KIT W557_K558del	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT W557_K558del KIT D816G	Advanced Solid Tumor	resistant	Imatinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816G were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT D816G	Advanced Solid Tumor	resistant	Ponatinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816G were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT D816G	Advanced Solid Tumor	resistant	Regorafenib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816G were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT D816G	Advanced Solid Tumor	resistant	Sunitinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D816G were resistant to Sutent (sunitinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT D820A	Advanced Solid Tumor	resistant	Imatinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820A were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT D820A	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D820A demonstrated resistance to Gleevec (imatinib) in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT D820A	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820A were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT D820A	Advanced Solid Tumor	conflicting	Regorafenib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820A were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT D820A	Advanced Solid Tumor	conflicting	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D820A were sensitive to treatment with Stivarga (regorafenib), demonstrating reduced cell viability in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT D820A	Advanced Solid Tumor	resistant	Sunitinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820A were resistant to Sutent (sunitinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT D820A	Advanced Solid Tumor	resistant	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D820A demonstrated resistance to Sutent (sunitinib) in culture (PMID: 32350132).	32350132
KIT W557_K558del KIT D820A	Advanced Solid Tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del and KIT D820A in culture, but was less effective compared to other treatments (PMID: 32350132).	32350132
KIT W557_K558del KIT D820A	Advanced Solid Tumor	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D820A demonstrated sensitivity to Qinlock (ripretinib) in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT W557_K558del KIT D820A	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT W557_K558del and KIT D820A demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132).	32350132
KIT W557_K558del KIT D820G	Advanced Solid Tumor	resistant	Imatinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were resistant to Gleevec (imatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT D820G	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were sensitive to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT D820G	Advanced Solid Tumor	resistant	Regorafenib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were resistant to Stivarga (regorafenib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT D820G	Advanced Solid Tumor	resistant	Sunitinib	Preclinical	Actionable	In a preclinical study, transformed cells co-expressing KIT W557_K558del and KIT D820G were resistant to Sutent (sunitinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT W557_K558del KIT D816E KIT D820V	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical study, KIT D816E and D820V were identified as secondary mutations in a patient with gastrointestinal stromal tumor harboring KIT W557_K558del who developed resistance to Gleevec (imatinib) (PMID: 18294292).	18294292
KIT V559_V560del	Advanced Solid Tumor	sensitive	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V559_V560del were sensitive to Gleevec (imatinib), demonstrating decreased cell proliferation in culture (PMID: 24205792).	24205792
KIT V559_V560del	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V559_V560del were sensitive to Sutent (sunitinib), demonstrating decreased cell proliferation in culture (PMID: 24205792).	24205792
KIT V559_V560del	Advanced Solid Tumor	sensitive	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT V559_V560del were sensitive to Flumatinib, demonstrating decreased cell proliferation in culture (PMID: 24205792).	24205792
KIT C443S	mucosal melanoma	sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with mucosal melanoma harboring KIT C443S demonstrated a substantial response to Gleevec (imatinib) in the first two weeks and then developed progression at 15 weeks (PMID: 25003536).	25003536
KIT F522C	systemic mastocytosis	sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment resulted in symptom and pathologic improvements in a patient with systemic mastocytosis harboring germline KIT F522C and inhibited growth of primary bone marrow cells derived from the patient in culture (PMID: 15070706).	15070706
KIT T632I	melanoma	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment resulted in worsened condition and continued disease progression and metastasis in a patient with metastatic melanoma harboring KIT T632I (PMID: 31043947).	31043947
KIT D816E	Advanced Solid Tumor	sensitive	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Gleevec (imatinib) inhibited proliferation of transformed cells expressing KIT D816E in culture (PMID: 35194937).	35194937
KIT D816E	Advanced Solid Tumor	sensitive	Nintedanib	Preclinical - Cell culture	Actionable	In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT D816E in culture (PMID: 35194937).	35194937
KIT D816E	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT D816E in culture (PMID: 35194937).	35194937
KIT V560_Y578del KIT D816E	gastrointestinal stromal tumor	decreased response	Sunitinib	Preclinical	Actionable	In a preclinical study, a patient derived GIST cell line co-harboring KIT V560_Y578del and KIT D816E demonstrated a decreased response to treatment with Sutent (sunitinib) (PMID: 25239608).	25239608
KIT Y570_L576del KIT D816E PTEN T321fs	gastrointestinal stromal tumor	resistant	Imatinib	Preclinical - Pdx	Actionable	In a preclinical study, Gleevec (imatinib mesylate) did not inhibit Kit, Erk, or Mtor signaling and resulted in minimal tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT D816E, KIT Y570_L576del, and PTEN T321fs, which was established from a patient who did not respond to Gleevec (imatinib mesylate), Sutent (sunitinib), and Nexavar (sorafenib) (PMID: 29100343).	29100343
KIT Y570_L576del KIT D816E PTEN T321fs	gastrointestinal stromal tumor	sensitive	Regorafenib	Preclinical - Pdx	Actionable	In a preclinical study, Stivarga (regorafenib) inhibited Kit, Erk, and Mtor signaling, resulted in tumor growth inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT D816E, KIT Y570_L576del, and PTEN T321fs, which was established from a patient who did not respond to Gleevec (imatinib mesylate), Sutent (sunitinib), and Nexavar (sorafenib) (PMID: 29100343).	29100343
KIT Y570_L576del KIT D816E PTEN T321fs	gastrointestinal stromal tumor	resistant	Sunitinib	Preclinical - Pdx	Actionable	In a preclinical study, Sutent (sunitinib) demonstrated limited inhibition of Kit, Erk, and Mtor signaling and resulted in minimal (22.9%) tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT D816E, KIT Y570_L576del, and PTEN T321fs, which was established from a patient who did not respond to Gleevec (imatinib mesylate), Sutent (sunitinib), and Nexavar (sorafenib) (PMID: 29100343).	29100343
KIT Y570_L576del KIT D816E PTEN T321fs	gastrointestinal stromal tumor	sensitive	Imatinib + LY294002	Preclinical - Pdx	Actionable	In a preclinical study, Gleevec (imatinib mesylate) in combination with LY294002 resulted in enhanced tumor growth inhibition compared to monotherapy in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT D816E, KIT Y570_L576del, and PTEN T321fs, which was established from a patient who did not respond to Gleevec (imatinib mesylate), Sutent (sunitinib), and Nexavar (sorafenib) (PMID: 29100343).	29100343
KIT exon 11 del KIT D816E	gastrointestinal stromal tumor	sensitive	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Gleevec (imatinib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT D816E in culture (PMID: 31085175).	31085175
KIT exon 11 del KIT D816E	gastrointestinal stromal tumor	sensitive	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, Rydapt (midostaurin) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT D816E in culture (PMID: 31085175).	31085175
KIT exon 11 del KIT D816E	gastrointestinal stromal tumor	sensitive	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, Stivarga (regorafenib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT D816E in culture (PMID: 31085175).	31085175
KIT exon 11 del KIT D816E	gastrointestinal stromal tumor	decreased response	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT D816E demonstrated reduced response to growth inhibition by Sutent (sunitinib) compared to cells harboring KIT exon 11 deletion alone in culture (PMID: 31085175).	31085175
KIT exon 11 del KIT D816E	gastrointestinal stromal tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT D816E in culture (PMID: 31085175).	31085175
KIT exon 11 del KIT D816E	gastrointestinal stromal tumor	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, Qinlock (ripretinib) inhibited proliferation of gastrointestinal stromal tumor cells harboring both KIT exon 11 deletion and KIT D816E in culture (PMID: 31085175).	31085175
ROS1 fusion KIT D816G	lung non-small cell carcinoma	predicted - resistant	Crizotinib	Case Reports/Case Series	Actionable	In a clinical study, a non-small cell lung carcinoma patient harboring a ROS1 fusion developed resistance to treatment with Xalkori (crizotinib) and was subsequently found to have acquired KIT D816G (PMID: 29636358).	29636358
KIT exon 11 del KIT D816G	Advanced Solid Tumor	predicted - sensitive	THE-630	Preclinical - Cell culture	Actionable	In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT D816G in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292).	detail...
KIT exon 9 ins KIT D816G	Advanced Solid Tumor	predicted - sensitive	THE-630	Preclinical - Cell culture	Actionable	In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 9 insertion and KIT D816G in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292).	detail...
KIT D820G	Advanced Solid Tumor	sensitive	Nintedanib	Preclinical - Cell culture	Actionable	In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT D820G in culture (PMID: 35194937).	35194937
KIT W557Lfs*5 KIT P577del KIT D820G	gastrointestinal stromal tumor	predicted - sensitive	Dovitinib	Preclinical - Pdx	Actionable	In preclinical study, Dovitinib (TKI258) treatment stabilized tumor volume in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT P577del, KIT W557Lfs*5, and KIT D820G (PMID: 35625872).	35625872
KIT W557Lfs*5 KIT P577del KIT D820G	gastrointestinal stromal tumor	resistant	Imatinib	Preclinical - Pdx	Actionable	In a preclinical study, a gastrointestinal stromal tumor patient-derived xenograft (PDX) model harboring KIT P577del, KIT W557Lfs*5, and KIT D820G demonstrated resistance to treatment with Gleevec (imatinib) (PMID: 27777285).	27777285
KIT W557Lfs*5 KIT P577del KIT D820G	gastrointestinal stromal tumor	sensitive	Cabozantinib	Preclinical - Pdx	Actionable	In a preclinical study, Cometriq (Cabometyx, cabozantinib) slowed tumor growth and decreased mitotic activity in a gastrointestinal stromal tumor patient-derived xenograft (PDX) model harboring KIT P577del, KIT W557Lfs*5, and KIT D820G (PMID: 27777285).	27777285
KIT W557Lfs*5 KIT P577del KIT D820G	gastrointestinal stromal tumor	sensitive	PLX9486	Preclinical - Pdx	Actionable	In a preclinical study, PLX9486 treatment decreased Mapk phosphorylation and Kit downstream signaling, inhibited proliferation, and reduced tumor growth in a Gleevec (imatinib)-resistant patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT P577del, W557Lfs*5, and D820G (PMID: 30523507).	30523507
KIT W557Lfs*5 KIT P577del KIT D820G	gastrointestinal stromal tumor	sensitive	Avapritinib	Preclinical - Pdx	Actionable	In a preclinical study, a patient derived xenograft (PDX) model with a gastrointestinal stromal tumor harboring KIT W557Lfs*5, KIT P577del, and KIT D820G was sensitive to treatment with Ayvakit (avapritinib), demonstrating a stabilized tumor volume at a dose of 10mg/kg and 27% tumor regression at a dose of 30mg/kg, a histologic response, and apoptotic activity (PMID: 30274985).	30274985
KIT W557Lfs*5 KIT P577del KIT D820G	gastrointestinal stromal tumor	predicted - sensitive	IDRX-42	Preclinical - Pdx	Actionable	In a preclinical study, IDRX-42 treatment inhibited mitosis and decreased tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT P577del, W557Lfs*5, and D820G (Cancer Res 2022;82(12_Suppl):Abstract nr 2666).	detail...
KIT exon 11 del KIT D820G	Advanced Solid Tumor	predicted - sensitive	THE-630	Preclinical - Cell culture	Actionable	In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT D820G in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292).	detail...
KIT W557_E561del	gastrointestinal stromal tumor	sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment led to partial responses in two patients with gastrointestinal stromal tumors harboring KIT W557_E561del, with a progression-free survival (PFS) of 10.7 mo and overall survival (OS) of 14.9 mo in one patient, and a PFS of 32.2 mo and OS of 34.4 mo in the second patient (PMID: 18294292).	18294292
KIT W557_E561del	gastrointestinal stromal tumor	sensitive	Imatinib	Preclinical - Pdx	Actionable	In a preclinical study, Gleevec (imatinib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_E561del with overexpression of GPR20 (IHC score 3+) (PMID: 33579785).	33579785
KIT W557_E561del	gastrointestinal stromal tumor	sensitive	Sunitinib	Preclinical - Pdx	Actionable	In a preclinical study, Sutent (sunitinib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT W557_E561del with overexpression of GPR20 (IHC score 3+) (PMID: 33579785).	33579785
KIT W557_E561del KIT N822D	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT W557_E561del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT N822D (PMID: 18294292).	18294292
KIT D820V	gastrointestinal stromal tumor	predicted - sensitive	Avapritinib	Case Reports/Case Series	Actionable	In a Phase I trial, Ayvakit (avapritinib) treatment resulted in tumor reduction lasting through 15 cycles of treatment in a patient with gastrointestinal stromal tumor harboring KIT D820V, whose disease had progressed on previous Gleevec (imatinib), Sutent (sunitinib), and Stivarga (regorafenib) treatment (PMID: 29093181; NCT02508532).	29093181
KIT E554_K558del	gastrointestinal stromal tumor	predicted - sensitive	Binimetinib + Imatinib	Case Reports/Case Series	Actionable	In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment had manageable toxicity and resulted in a 99% pathological response and 29% RECIST response in a patient with a rectal gastrointestinal stromal tumor harboring KIT E554_K558del (PMID: 35041493; NCT01991379).	35041493
KIT Y553N	thymic carcinoma	sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with metastatic thymic carcinoma harboring KIT Y553N demonstrated improved clinical performance and reduction in metastatic lesions following treatment with Gleevec (imatinib) (PMID: 21969494).	21969494
KIT K558_V559del	gastrointestinal stromal tumor	predicted - sensitive	Binimetinib + Imatinib	Case Reports/Case Series	Actionable	In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment resulted in a 70% pathological response and 46% RECIST response in a patient with a rectal gastrointestinal stromal tumor harboring KIT K558_V559del (PMID: 35041493; NCT01991379).	35041493
KIT W557C KIT K558_V560del	gastrointestinal stromal tumor	predicted - sensitive	Ponatinib	Case Reports/Case Series	Actionable	In a clinical study, a GIST patient harboring KIT K558_V560del and KIT W557C, resistant to Gleevec (imatinib), Sutent (sunitinib), and Stivarga (regorafenib), demonstrated sensitivity when treated with Iclusig (ponatinib), which resulted in a radiologic response and stabilization for six months (PMID: 25239608).	25239608
KIT E562_L576del KIT N822Y	gastrointestinal stromal tumor	predicted - resistant	Binimetinib + Imatinib	Case Reports/Case Series	Actionable	In a Phase II trial, KIT N822Y was identified as a secondary mutation in a patient with a gastrointestinal stromal tumor harboring a primary KIT E562_L576del mutation who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) (PMID: 35041493; NCT01991379).	35041493
KIT V555_D572del KIT N822Y	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT V555_D572del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT N822Y (PMID: 18294292).	18294292
KIT T670E	Advanced Solid Tumor	resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT T670E demonstrated resistance to Gleevec (imatinib) in culture (PMID: 35194937).	35194937
KIT T670E	Advanced Solid Tumor	sensitive	Nintedanib	Preclinical - Cell culture	Actionable	In a preclinical study, Ofev (nintedanib) inhibited proliferation of transformed cells expressing KIT T670E in culture (PMID: 35194937).	35194937
KIT T670E	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT T670E in culture (PMID: 35194937).	35194937
KIT T670E	Advanced Solid Tumor	resistant	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT T670E demonstrated resistance to Ayvakit (avapritinib) in culture (PMID: 35194937).	35194937
KIT T670E	Advanced Solid Tumor	resistant	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT T670E demonstrated resistance to Qinlock (ripretinib) in culture (PMID: 35194937).	35194937
KIT V559G	Advanced Solid Tumor	sensitive	Axitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and proliferation of transformed cells expressing KIT V559G in culture (PMID: 31205508).	31205508
KIT V559G	Advanced Solid Tumor	sensitive	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Gleevec (imatinib) inhibited proliferation of transformed cells expressing KIT V559G in culture (PMID: 35194937).	35194937
KIT V559G	Advanced Solid Tumor	sensitive	Nintedanib	Preclinical - Cell culture	Actionable	In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT V559G in culture (PMID: 35194937).	35194937
KIT V559G	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of transformed cells expressing KIT V559G in culture (PMID: 35194937).	35194937
KIT V560E	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, neoadjuvant Gleevec (imatinib) treatment resulted in decreased tumor size with a maximal response at 12 months in a patient with gastrointestinal stromal tumor (GIST) harboring KIT V560E, allowing for surgical resection (PMID: 34250403).	34250403
KIT V560del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment led to a complete response in a patient with gastrointestinal stromal tumor harboring KIT V560del, with a progression-free survival of 33.4 months and an overall survival of 46.8 months (PMID: 18294292).	18294292
KIT V560del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Preclinical	Actionable	In a preclinical study, Gleevec (imatinib) treatment resulted in inhibition of tumor proliferation in a mouse model of gastrointestinal stromal tumor harboring KIT V558del (corresponding to V560del in human) (PMID: 25572173).	25572173
KIT V560del	Advanced Solid Tumor	sensitive	Imatinib	Preclinical	Actionable	In a preclinical study, Gleevec (imatinib) inhibited growth of transformed cell lines over expressing KIT V560del in culture (PMID: 19861435).	19861435
KIT V560del	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical	Actionable	In a preclinical study, Sutent (sunitinib) inhibited growth of transformed cell lines over expressing KIT V560del in culture (PMID: 19861435).	19861435
KIT V560del	gastrointestinal stromal tumor	predicted - sensitive	Binimetinib + Imatinib	Preclinical	Actionable	In a preclinical study, combination treatment with Gleevec (imatinib) and Mektovi (binimetinib) resulted in greater inhibition of tumor growth than either agent alone in a mouse model of gastrointestinal stromal tumor harboring KIT V558del (corresponding to V560del in human) (PMID: 25572173).	25572173
KIT V560del	gastrointestinal stromal tumor	sensitive	G007-LK + Imatinib	Preclinical	Actionable	In a preclinical study, the combination of G007-LK and Gleevec (imatinib) demonstrated increased anti-tumor activity compared to either agent alone in a mouse model of gastrointestinal stromal tumor expressing Kit V558del (corresponding to human V560del) (PMID: 28611108).	28611108
KIT K558N KIT V560del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumors harboring KIT K558N and KIT V560del (reported as KIT V559del), with a progression-free survival of 23.4 months and an overall survival of 54.7 months (PMID: 18294292).	18294292
KIT V560_L576del	gastrointestinal stromal tumor	sensitive	Imatinib	Preclinical - Pdx & cell culture	Actionable	In a preclinical study, a patient derived GIST cell line harboring KIT V560_L576del demonstrated sensitivity to Gleevec (imatinib) in both culture and PDX models, resulting in phosphorylation inhibition of Akt, Kit, and Erk (PMID: 25239608).	25239608
KIT V560_L576del	gastrointestinal stromal tumor	sensitive	Ponatinib	Preclinical - Pdx & cell culture	Actionable	In a preclinical study, a patient derived GIST cell line harboring KIT V560_L576del demonstrated sensitivity to Iclusig (ponatinib) in both culture and PDX models, resulting in phosphorylation inhibition of Akt, Kit, and Erk (PMID: 25239608).	25239608
KIT exon 11 del KIT D820A	Advanced Solid Tumor	predicted - sensitive	THE-630	Preclinical - Cell culture	Actionable	In a preclinical study, THE-630 treatment inhibited growth of cells co-expressing a KIT exon 11 deletion and KIT D820A in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292).	detail...
KIT D820E	Advanced Solid Tumor	sensitive	Nintedanib	Preclinical - Cell culture	Actionable	In a preclinical study, Ofev (nintedanib) inhibited Kit autophosphorylation and proliferation of transformed cells expressing KIT D820E in culture (PMID: 35194937).	35194937
KIT D820E	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, cells expressing KIT D820E demonstrated sensitivity to Iclusig (ponatinib) in an in vitro kinase assay (PMID: 25239608).	25239608
KIT D820E	thymic carcinoma	predicted - sensitive	Sorafenib	Case Reports/Case Series	Actionable	In a clinical case study, a patient with metastatic thymic carcinoma harboring KIT D820E demonstrated a partial response to treatment with Nexavar (sorafenib) (PMID: 19461405).	19461405
KIT A502_Y503dup KIT D820E	gastrointestinal stromal tumor	resistant	Imatinib	Preclinical - Pdx	Actionable	In a preclinical study, Gleevec (imatinib mesylate) did not inhibit Kit, Erk, or Mtor signaling and resulted in minimal (7.4%) tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup and KIT D820E, which was established from a patient who did not respond to Gleevec (imatinib mesylate) and Sutent (sunitinib) (PMID: 29100343).	29100343
KIT A502_Y503dup KIT D820E	gastrointestinal stromal tumor	predicted - resistant	Sunitinib	Preclinical - Pdx	Actionable	In a preclinical study, Sutent (sunitinib) did not inhibit Kit, Erk, or Mtor signaling and resulted in minimal (26.2%) tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup and KIT D820E, which was established from a patient who did not respond to Gleevec (imatinib mesylate) and Sutent (sunitinib) (PMID: 29100343).	29100343
KIT D820N	gastrointestinal stromal tumor	predicted - resistant	Imatinib	Case Reports/Case Series	Actionable	In a clinical study, KIT D820N was identified as a secondary mutation in the metastatic lesions from a gastrointestinal stromal tumor patient whose disease progressed on Gleevec (imatinib) (PMID: 18628470).	18628470
KIT A502_Y503dup	gastrointestinal stromal tumor	predicted - sensitive	Dovitinib	Preclinical - Pdx	Actionable	In preclinical study, Dovitinib (TKI258) treatment resulted in tumor shrinkage in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup (PMID: 35625872).	35625872
KIT A502_Y503dup	gastrointestinal stromal tumor	conflicting	Imatinib	Preclinical - Pdx	Actionable	In a preclinical study, a gastrointestinal stromal tumor patient-derived xenograft (PDX) model harboring KIT A502_Y503dup demonstrated resistance to treatment with Gleevec (imatinib), resulting in increased tumor volume (PMID: 27777285).	27777285
KIT A502_Y503dup	gastrointestinal stromal tumor	conflicting	Imatinib	Preclinical - Pdx	Actionable	In a preclinical study, Gleevec (imatinib) treatment stabilized tumor growth in a gastrointestinal stromal tumor patient-derived xenograft (PDX) model harboring KIT A502_Y503dup (PMID: 35625872).	35625872
KIT A502_Y503dup	Advanced Solid Tumor	sensitive	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup (Y503_F504insAY) were sensitive to Gleevec (imatinib) in culture, demonstrating decreased cell proliferation (PMID: 24205792).	24205792
KIT A502_Y503dup	gastrointestinal stromal tumor	predicted - sensitive	Regorafenib	Preclinical - Pdx	Actionable	In a preclinical study, Stivarga (regorafenib) did not significantly inhibit Kit, Erk, or Mtor signaling, but resulted in tumor growth inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup and KIT D820E, which was established from a patient who did not respond to Gleevec (imatinib mesylate) and Sutent (sunitinib) (PMID: 29100343).	29100343
KIT A502_Y503dup	Advanced Solid Tumor	sensitive	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, Stivarga (regorafenib) treatment resulted in decreased viability of transformed cells expressing KIT A502_Y503dup in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132).	32350132
KIT A502_Y503dup	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup (Y503_F504insAY) were sensitive to Sutent (sunitinib) in culture, demonstrating decreased cell proliferation (PMID: 24205792).	24205792
KIT A502_Y503dup	gastrointestinal stromal tumor	sensitive	Cabozantinib	Preclinical - Pdx	Actionable	In a preclinical study, Cometriq (Cabometyx, cabozantinib) resulted in decreased tumor volume and reduced mitotic activity in a gastrointestinal stromal tumor patient derived xenograft (PDX) model harboring KIT A502_Y503dup (PMID: 27777285).	27777285
KIT A502_Y503dup	gastrointestinal stromal tumor	predicted - sensitive	Binimetinib + Imatinib	Case Reports/Case Series	Actionable	In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment resulted in a 90% pathological response and 27% RECIST response in the primary tumor and 100% pathological response in metastatic lesions of a patient with an esophageal gastrointestinal stromal tumor harboring KIT A502_Y503dup (PMID: 35041493; NCT01991379).	35041493
KIT A502_Y503dup	gastrointestinal stromal tumor	sensitive	Avapritinib	Preclinical - Pdx	Actionable	In a preclinical study, a patient derived xenograft (PDX) model with a gastrointestinal stromal tumor harboring KIT A502_Y503dup was sensitive to treatment with Ayvakit (avapritinib), demonstrating a 90% stabilized tumor volume at a dose of 30mg/kg and tumor regression at a dose of 60mg/kg, and inhibition of cell proliferation (PMID: 30274985).	30274985
KIT A502_Y503dup	Advanced Solid Tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased cell viability and reduced KIT signaling in transformed cells expressing KIT A502_Y503dup in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132).	32350132
KIT A502_Y503dup	Advanced Solid Tumor	sensitive	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup (Y503_F504insAY) were sensitive to Flumatinib in culture, demonstrating decreased cell proliferation (PMID: 24205792).	24205792
KIT A502_Y503dup	Advanced Solid Tumor	sensitive	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, Qinlock (ripretinib) treatment resulted in decreased cell viability and reduced KIT signaling in transformed cells expressing KIT A502_Y503dup in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132).	32350132
KIT A502_Y503dup	Advanced Solid Tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT A502_Y503dup demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability and inhibition of KIT signaling (PMID: 32350132).	32350132
KIT A502_Y503dup	gastrointestinal stromal tumor	predicted - sensitive	IDRX-42	Preclinical - Pdx	Actionable	In a preclinical study, IDRX-42 treatment inhibited mitosis and decreased tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup (Cancer Res 2022;82(12_Suppl):Abstract nr 2666).	detail...
KIT A502_Y503dup	gastrointestinal stromal tumor	predicted - sensitive	Binimetinib + Dovitinib	Preclinical - Pdx	Actionable	In preclinical study, combination treatment with Mektovi (binimetinib) and Dovitinib (TKI258) resulted in tumor shrinkage in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT A502_Y503dup (PMID: 35625872).	35625872
KIT exon11	gastrointestinal stromal tumor	predicted - sensitive	Dasatinib	Phase II	Actionable	In a Phase II clinical trial, Sprycel (dasatinib) demonstrated preliminary activity in patients with Gleevec (imatinib)-resistant gastrointestinal stromal tumor (GIST), including patients harboring KIT exon 11 mutations, with a partial response rate of 32% (15/47), median progression-free survival of 2.0 months, and overall survival of 19 months (J Clin Oncol 29: 2011 (suppl; abstr 10006)).	detail...
KIT exon11	melanoma	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment resulted in a partial response in a patient with metastastic anal melanoma harboring a 21 base-pair duplication in KIT exon 11, and reduced pulmonary metastasis by 60% (PMID: 20372153).	20372153
KIT exon11	gastrointestinal stromal tumor	sensitive	Imatinib	Guideline	Actionable	Gleevec (imatinib) is included in guidelines for gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 11 mutations, as adjuvant therapy for patients with localized disease and as first-line therapy for patients with locally advanced, unresectable, or metastatic disease (PMID: 34560242; ESMO.org).	34560242 detail...
KIT exon11	gastrointestinal stromal tumor	sensitive	Imatinib	Guideline	Actionable	Gleevec (imatinib) is included in guidelines for patients with gastrointestinal stromal tumor (GIST) harboring KIT exon 11 mutations (NCCN.org).	detail...
KIT exon11	gastrointestinal stromal tumor	sensitive	Imatinib	Phase III	Actionable	In a Phase III trial, a long-term analysis of gastrointestinal stromal tumor (GIST) patients treated with Gleevec (imatinib) demonstrated patients harboring KIT exon 11 mutations had a median progression-free survival of 39.4 months, and median overall survival was not reached, with 69.1% of patients with KIT exon 11 mutations alive at 5 years (PMID: 26687836; NCT00367861).	26687836
KIT exon11	gastrointestinal stromal tumor	sensitive	Imatinib	Phase III	Actionable	In a Phase III trial, Gleevec (imatinib) treatment resulted in longer overall survival (OS) (66 vs 40 months) in gastrointestinal stromal tumor (GIST) patients harboring KIT exon 11 mutations compared to KIT and PDGFRA wild-type patients, while subtypes of KIT exon 11 mutations (deletion, insertation/duplication, point mutation) did not affect OS outcome (PMID: 28196207; NCT00009906).	28196207
KIT exon11	melanoma	sensitive	Nilotinib	Phase II	Actionable	In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41), which included a partial response of 38.5% (10/26) and a progression free survival of 5.4 months in melanoma patients harboring KIT exon 11 mutations (PMID: 28327988).	28327988
KIT exon11	melanoma	sensitive	Nilotinib	Phase II	Actionable	In a Phase II trial, Tasigna (nilotinib) treatment resulted in complete response in 5% (1/19) and partial response in 21% (4/19) of melanoma patients harboring KIT exon 11 or exon 13 mutations (PMID: 28843487; NCT01168050).	28843487
KIT exon11	gastrointestinal stromal tumor	sensitive	Nilotinib	Phase III	Actionable	In a Phase III trial, a 24 month progression free survival was observed in 69.6% of advanced GIST patients harboring KIT exon 11 mutations when treated with Tasigna (nilotinib) (J Clin Oncol May 2013 vol. 31 no. 15_suppl 10501).	detail...
KIT exon11	gastrointestinal stromal tumor	predicted - sensitive	Ponatinib	Phase II	Actionable	In a Phase II trial, Iclusig (ponatinib) treatment in gastrointestinal stromal tumor patients with KIT exon 11 mutations who failed prior therapy versus those without KIT exon 11 mutations led to a 16-week clinical benefit rate of 36% (10/28; 1 partial response (PR), 9 stable disease (SD)) vs 20% (3/15; 3 SD), an objective response rate of 7% (2/28; 2 PR) vs 0% (0/15), and median progression-free survival of 4.0 vs 2.0 mo and overall survival of 14.7 vs 14.3 mo, respectively (PMID: 35091442; NCT01874665).	35091442
KIT exon11	melanoma	sensitive	Regorafenib	Phase II	Actionable	In a Phase II trial, second or later-line Stivarga (regorafenib) treatment resulted in a disease control rate of 73.9% (17/23, 2 complete responses, 5 partial responses), an objective response rate of 30.4% (7/23), and median overall survival (mOS) of 21.5 months in patients with melanoma harboring KIT exon 9, 11, 13, or 17 mutations, and improved mOS in patients with non-exon 11 mutations compared to patients with exon 11 mutations (24.9 mo vs 18.3 mo, P=0.042) (PMID: 37741071; NCT02501551).	37741071
KIT exon11	gastrointestinal stromal tumor	sensitive	Regorafenib	Phase II	Actionable	In a Phase II clinical trial, treatment with Stivarga (regorafenib) resulted in a clinical benefit rate of 76% (25/33), a median progression-free survival (PFS) of 13.2 months, and a median overall survival of 25 months in patients with gastrointestinal stromal tumors, with patients with KIT exon 11 mutations demonstrating the longest PFS of 13.4 months (PMID: 27371698).	27371698
KIT exon11	gastrointestinal stromal tumor	sensitive	Regorafenib	Guideline	Actionable	Stivarga (regorafenib) is included in guidelines as third-line or subsequent therapy for locally advanced, unresectable, or metastatic gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 11 mutations (PMID: 34560242; ESMO.org).	34560242 detail...
KIT exon11	gastrointestinal stromal tumor	sensitive	Sunitinib	Clinical Study - Cohort	Actionable	In a retrospective analysis, Sutent (sunitinib) treatment demonstrated efficacy in gastrointestinal stromal tumor (GIST) patients harboring KIT mutations previously treated with Gleevec (imatinib), and resulted in an objective response rate (ORR) of 6% (9/143) and median progression-free survival (mPFS) of 7.0 months in patients with KIT exon 11 mutations, and ORR of 19% (8/42) and mPFS of 12.3 months in patients with KIT exon 9 mutations (PMID: 26772734; NCT01459757).	26772734
KIT exon11	gastrointestinal stromal tumor	sensitive	Sunitinib	Guideline	Actionable	Sutent (sunitinib) is included in guidelines as second-line or subsequent therapy for locally advanced, unresectable, or metastatic gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 11 mutations (PMID: 34560242; ESMO.org).	34560242 detail...
KIT exon11	melanoma	not predictive	Pembrolizumab	Clinical Study	Actionable	In a retrospective analysis, real-world treatment with either Keytruda (pembrolizumab) or Toripalimab (JS001) resulted in a median disease-free survival of 33 months in melanoma patients harboring KIT mutations in either exon 11 (64.8%), exon 13 (17.6%), or exon 17 (17.6%) compared to 32 months in patients with wild-type BRAF, NRAS, and KIT (p=0.200) (PMID: 37403699).	37403699
KIT exon11	gastrointestinal stromal tumor	no benefit	Imatinib + Infigratinib	Phase I	Actionable	In a Phase I trial, Truseltiq (infigratinib) and Gleevec (imatinib) combination therapy resulted in stable disease as best response in 58% (7/12) of patients with advanced gastrointestinal stromal tumor harboring KIT mutations in exon 11 (n=10), exon 9 (n=3), or other (n=3), however, the trial was discontinued due to toxicity concerns (PMID: 30101387).	30101387
KIT exon11	gastrointestinal stromal tumor	predicted - sensitive	PLX9486	Phase I	Actionable	In a Phase I trial, PLX9486 demonstrated safety and preliminary efficacy, resulted in a progression-free survival of more than 24 weeks and partial response in 8.3% (2/24) of patients with advanced solid tumors, 20 of these patients had gastrointestinal stromal tumor that progressed on Gleevec (imatinib mesylate), and most harbored KIT exon 11 and exon 17 mutations (Journal of Clinical Oncology 36, no. 15_suppl (May 20 2018) 11509-11509; NCT02401815).	detail...
KIT exon11	gastrointestinal stromal tumor	sensitive	Ripretinib	Phase I	Actionable	In a Phase I trial, Qinlock (ripretinib) was well tolerated, resulted in an objective response in 11.3% (16/142, 16 partial responses) and stable disease in 61.3% (87/142) of patients with advanced gastrointestinal stromal tumor harboring KIT (n=135) or PDGFRA mutations (n=7), with a median progression-free survival of 5.6 months, 72.5% (103/142) of the patients harbored KIT exon 11 mutations (PMID: 32804590; NCT02571036).	32804590
KIT exon11	gastrointestinal stromal tumor	sensitive	Ripretinib	Phase II	Actionable	In a Phase II trial, second-line Qinlock (ripretinib) treatment demonstrated a favorable safety profile and resulted in similar median progression-free survival (mPFS) compared to Sutent (sunitinib) (10.3 vs 8.3 mo, HR=0.99, p=0.92) in patients with gastrointestinal stromal tumors previously treated with Gleevec (imatinib), longer mPFS (not reached vs 4.9 months, HR=0.46, p=0.03) was observed in patients harboring KIT exon 11 mutations (PMID: 37980854).	37980854
KIT exon11	gastrointestinal stromal tumor	sensitive	Ripretinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Qinlock (ripretinib) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring a KIT exon 11 deletion mutation in culture, and resulted in tumor regression in cell line xenograft models (PMID: 31085175).	31085175
KIT exon11	gastrointestinal stromal tumor	sensitive	Ripretinib	Guideline	Actionable	Qinlock (ripretinib) is included in guidelines as fourth-line or subsequent therapy for locally advanced, unresectable, or metastatic gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 11 mutations (PMID: 34560242; ESMO.org).	34560242 detail...
KIT exon11	gastrointestinal stromal tumor	sensitive	Imatinib + MK2206	Preclinical - Cell line xenograft	Actionable	In a preclinical study, the combination of Gleevec (imatinib) and MK2206 increased growth inhibition and decreased viability of gastrointestinal stromal tumor (GIST) cell lines harboring KIT exon 11 mutations in culture, and improved survival and inhibited tumor growth in a KIT exon 11-mutant GIST cell line xenograft model, with increased efficacy compared to either agent alone (PMID: 27370604).	27370604
KIT exon11	melanoma	not predictive	Toripalimab-tpzi	Clinical Study	Actionable	In a retrospective analysis, real-world treatment with either Keytruda (pembrolizumab) or Loqtorz (toripalimab-tpzi) resulted in a median disease-free survival of 33 months in melanoma patients harboring KIT mutations in either exon 11 (64.8%), exon 13 (17.6%), or exon 17 (17.6%) compared to 32 months in patients with wild-type BRAF, NRAS, and KIT (p=0.200) (PMID: 37403699).	37403699
KIT exon11	gastrointestinal stromal tumor	sensitive	Imatinib + XAV939	Preclinical - Cell culture	Actionable	In a preclinical study, treatment with the combination of XAV939 and Gleevec (imatinib) resulted in decreased viability of gastrointestinal stromal tumor (GIST) cell lines harboring KIT exon 11 mutations compared to Gleevec (imatinib) alone, in culture (PMID: 28611108).	28611108
KIT exon11	gastrointestinal stromal tumor	sensitive	Imatinib + PKF118-310	Preclinical - Cell culture	Actionable	In a preclinical study, treatment with the combination of PKF118-310 and Gleevec (imatinib) resulted in decreased viability of gastrointestinal stromal tumor (GIST) cell lines harboring KIT exon 11 mutations compared to Gleevec (imatinib) alone, in culture (PMID: 28611108).	28611108
KIT exon11	gastrointestinal stromal tumor	predicted - sensitive	Pexidartinib + PLX9486	Phase I	Actionable	In a Phase I trial, PLX9486 and Pexidartinib (PLX3397) combination therapy demonstrated safety and preliminary efficacy, resulted in a partial response rate of 8.3% (1/12) and progression-free survival not yet reached in patients with advanced solid tumors, 11 of these patients had gastrointestinal stromal tumor that progressed on Gleevec (imatinib mesylate), and most harbored KIT exon 11 and exon 17 mutations (Journal of Clinical Oncology 36, no. 15_suppl (May 20 2018) 11509-11509; NCT02401815).	detail...
KIT exon11 KIT exon17	gastrointestinal stromal tumor	predicted - sensitive	PLX9486	Phase I	Actionable	In a Phase I trial, PLX9486 treatment resulted in partial response with 33% decrease of tumor size after 4 cycles of therapy in a patient with gastrointestinal stromal tumor harboring a primary KIT exon 11 mutation and a secondary KIT exon 17 mutation, who progressed on prior Gleevec (imatinib mesylate) and Sutent (sunitinib) therapies (CTOS Annual Meeting, Nov 2017, abstract # 2771952).	detail...
KIT exon11 KIT exon17	gastrointestinal stromal tumor	predicted - sensitive	DCC-3009	Preclinical	Actionable	In a preclinical study, DCC-3009 induced tumor regression in a xenograft model of gastrointestinal stromal tumor harboring KIT exon 11 and exon 17 mutations (Cancer Res (2023) 83 (7_Supplement): 4033).	detail...
KIT exon11 KIT exon13	gastrointestinal stromal tumor	predicted - sensitive	DCC-3009	Preclinical	Actionable	In a preclinical study, DCC-3009 induced tumor regression in a xenograft model of gastrointestinal stromal tumor harboring KIT exon 11 and exon 13 mutations (Cancer Res (2023) 83 (7_Supplement): 4033).	detail...
KIT exon9	gastrointestinal stromal tumor	sensitive	Imatinib	Guideline	Actionable	Gleevec (imatinib) is included in guidelines for gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 9 mutations, as adjuvant therapy for patients with localized disease and as first-line therapy for patients with locally advanced, unresectable, or metastatic disease (PMID: 34560242; ESMO.org).	34560242 detail...
KIT exon9	gastrointestinal stromal tumor	sensitive	Imatinib	Guideline	Actionable	Gleevec (imatinib) is included in guidelines for patients with gastrointestinal stromal tumor (GIST) harboring KIT exon 9 mutations (NCCN.org).	detail...
KIT exon9	Advanced Solid Tumor	resistant	Imatinib	Preclinical	Actionable	In a preclinical study, Gleevec (imatinib) had no effect on transformed cells expressing a KIT exon 9 mutation in culture (PMID: 25239608).	25239608
KIT exon9	gastrointestinal stromal tumor	no benefit	Ponatinib	Phase II	Actionable	In a Phase II trial, Iclusig (ponatinib) treatment did not result in clinical benefit in gastrointestinal stromal tumor patients with KIT exon 9 mutations who had failed prior tyrosine kinase inhibitor treatment (PMID: 35091442; NCT01874665).	35091442
KIT exon9	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing a KIT exon 9 mutation demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT exon9	melanoma	predicted - sensitive	Regorafenib	Case Reports/Case Series	Actionable	In a Phase II trial, second or later-line Stivarga (regorafenib) treatment resulted in a disease control rate of 73.9% (17/23, 2 complete responses, 5 partial responses), an objective response rate of 30.4% (7/23), and median overall survival (mOS) of 21.5 months in patients with melanoma harboring KIT exon 9, 11, 13, or 17 mutations, and improved mOS in patients with non-exon 11 mutations compared to patients with exon 11 mutations (24.9 mo vs 18.3 mo, P=0.042) (PMID: 37741071; NCT02501551).	37741071
KIT exon9	gastrointestinal stromal tumor	sensitive	Regorafenib	Guideline	Actionable	Stivarga (regorafenib) is included in guidelines as third-line or subsequent therapy for locally advanced, unresectable, or metastatic gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 9 mutations (PMID: 34560242; ESMO.org).	34560242 detail...
KIT exon9	Advanced Solid Tumor	resistant	Regorafenib	Preclinical	Actionable	In a preclinical study, Stivarga (regorafineb) had no effect on transformed cells expressing a KIT exon 9 mutation in culture (PMID: 25239608).	25239608
KIT exon9	gastrointestinal stromal tumor	sensitive	Sunitinib	Clinical Study - Cohort	Actionable	In a retrospective analysis, GIST patients with KIT exon 9 mutations showed improved progression-free survival (PFS), overall survival, and objective response rate (ORR) compared to patients with exon 11 mutations, with a median PFS of 12.3 months vs. 7.0 months, and an ORR of 19% (8/42) vs. 6% (9/143) following treatment with Sutent (sunitinib) (PMID: 26772734).	26772734
KIT exon9	gastrointestinal stromal tumor	sensitive	Sunitinib	Guideline	Actionable	Sutent (sunitinib) is included in guidelines as second-line or subsequent therapy for locally advanced, unresectable, or metastatic gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 9 mutations (PMID: 34560242; ESMO.org).	detail... 34560242
KIT exon9	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing a KIT exon 9 mutation demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT exon9	gastrointestinal stromal tumor	no benefit	Imatinib + Infigratinib	Phase I	Actionable	In a Phase I trial, Truseltiq (infigratinib) and Gleevec (imatinib) combination therapy resulted in stable disease as best response in 58% (7/12) of patients with advanced gastrointestinal stromal tumor harboring KIT mutations in exon 9 (n=3), exon 11 (n=10), or other (n=3), however, the trial was discontinued due to toxicity concerns (PMID: 30101387).	30101387
KIT exon9	gastrointestinal stromal tumor	predicted - sensitive	Ripretinib	Phase I	Actionable	In a Phase I trial, Qinlock (ripretinib) was well tolerated, resulted in an objective response in 11.3% (16/142, 16 partial responses) and stable disease in 61.3% (87/142) of patients with advanced gastrointestinal stromal tumor harboring KIT (n=135) or PDGFRA mutations (n=7), with a median progression-free survival of 5.6 months, 18.3% (26/142) of the patients harbored KIT exon 9 mutations (PMID: 32804590; NCT02571036).	32804590
KIT exon9	gastrointestinal stromal tumor	predicted - sensitive	Ripretinib	Guideline	Actionable	Qinlock (ripretinib) is included in guidelines as fourth-line or subsequent therapy for locally advanced, unresectable, or metastatic gastrointestinal stromal tumor (GIST) patients harboring sensitizing mutations, such as KIT exon 9 mutations (PMID: 34560242; ESMO.org).	34560242 detail...
KIT P577_D579del	thymic carcinoma	predicted - sensitive	Sorafenib	Case Reports/Case Series	Actionable	In a clinical case report, a patient with advanced thymic carcinoma harboring KIT P577_D579del demonstrated response to treatment with Nexavar (sorafenib), with a decrease in tumor size (PMID: 20970876).	20970876
KIT K558delinsNP	Advanced Solid Tumor	sensitive	Imatinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT K558delinsNP demonstrated sensitivity to treatment with Gleevec (imatinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT K558delinsNP	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT K558delinsNP demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT K558delinsNP	Advanced Solid Tumor	sensitive	Regorafenib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT K558delinsNP demonstrated sensitivity to treatment with Stivarga (regorafenib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT K558delinsNP	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT K558delinsNP demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT V560_Y578del	gastrointestinal stromal tumor	sensitive	Axitinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Inlyta (axitinib) inhibited KIT phosphorylation and downstream signaling, reduced proliferation and induced cell-cycle arrest in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, and inhibited tumor growth in xenograft models (PMID: 31205508).	31205508
KIT V560_Y578del	gastrointestinal stromal tumor	sensitive	Imatinib	Preclinical	Actionable	In a preclinical study, a patient derived GIST cell line harboring KIT V560_Y578del demonstrated sensitivity to Gleevec (imatinib) in culture (PMID: 25239608).	25239608
KIT V560_Y578del	gastrointestinal stromal tumor	sensitive	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Gleevec (imatinib) inhibited cell growth and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, but was less potent compared to AZD3229 (PMID: 32350132).	32350132
KIT V560_Y578del	gastrointestinal stromal tumor	sensitive	Nintedanib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Ofev (nintedanib) decreased Kit phosphorylation and downstream signaling, induced cell-cycle arrest and apoptosis, and inhibited proliferation of a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, and suppressed tumor growth in cell line xenograft models (PMID: 35194937).	35194937
KIT V560_Y578del	gastrointestinal stromal tumor	sensitive	Ponatinib	Preclinical - Patient cell culture	Actionable	In a preclinical study, a patient-derived gastrointestinal stromal tumor (GIST) cell line harboring KIT V560_Y578del demonstrated sensitivity to Iclusig (ponatinib) in culture (PMID: 25239608).	25239608
KIT V560_Y578del	gastrointestinal stromal tumor	sensitive	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, Stivarga (regorafenib) inhibited growth of a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, but was less potent compared to AZD3229 (PMID: 32350132).	32350132
KIT V560_Y578del	gastrointestinal stromal tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited proliferation of a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture (PMID: 31205508).	31205508
KIT V560_Y578del	gastrointestinal stromal tumor	sensitive	Copanlisib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Aliqopa (copanlisib) inhibited cell growth and PI3K signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, and inhibited tumor growth in cell line xenograft models (PMID: 32371592).	32371592
KIT V560_Y578del	gastrointestinal stromal tumor	sensitive	Imatinib + Infigratinib	Preclinical - Cell culture	Actionable	In a preclinical study, Truseltiq (infigratinib) and Gleevec (imatinib) combination treatment demonstrated enhanced antiproliferative activity in gastrointestinal stromal tumor cells harboring KIT V560_Y578del in culture (PMID: 25673643).	25673643
KIT V560_Y578del	gastrointestinal stromal tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited cell growth and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, but was less potent compared to AZD3229 (PMID: 32350132).	32350132
KIT V560_Y578del	gastrointestinal stromal tumor	resistant	Ripretinib	Preclinical - Cell culture	Actionable	In a preclinical study, Qinlock (ripretinib) inhibited cell growth and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture, but was less potent compared to AZD3229 (PMID: 32350132).	32350132
KIT V560_Y578del	gastrointestinal stromal tumor	sensitive	AZD3229	Preclinical - Cell culture	Actionable	In a preclinical study, AZD3229 inhibited cell growth and KIT signaling in a gastrointestinal stromal tumor cell line harboring KIT V560_Y578del in culture (PMID: 32350132).	32350132
KIT V560_Y578del	gastrointestinal stromal tumor	sensitive	HQP1351	Preclinical - Cell line xenograft	Actionable	In a preclinical study, HQP1351 treatment inhibited Kit activity and proliferation of a gastrointestinal stromal tumor (GIST) cell line harboring KIT V560_Y578del in culture, and inhibited tumor growth in a cell line xenograft model (PMID: 31673329).	31673329
KIT V560_Y578del	gastrointestinal stromal tumor	sensitive	Copanlisib + Imatinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, the combination of Aliqopa (copanlisib) and Gleevec (imatinib) demonstrated enhanced cell growth inhibition and increased apoptosis of gastrointestinal stromal tumor cells harboring KIT V560_Y578del in culture and in cell line xenograft models (PMID: 32371592).	32371592
KIT T417_D419delinsI	Advanced Solid Tumor	conflicting	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Gleevec (imatinib mesylate) inhibited Kit phosphorylation in transformed cells over expressing KIT T417_D419delinsI in culture (PMID: 16015387).	16015387
KIT T417_D419delinsI	Advanced Solid Tumor	conflicting	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT T417_D419delinsI were resistant to treatment with Gleevec (imatinib) in culture (PMID: 24205792).	24205792
KIT T417_D419delinsI	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT T417_D419delinsI were sensitive to treatment with Sutent (sunitinib), demonstrating decreased cell proliferation (PMID: 24205792).	24205792
KIT T417_D419delinsI	Advanced Solid Tumor	sensitive	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT T417_D419delinsI were sensitive to treatment with Flumatinib, demonstrating decreased cell proliferation (PMID: 24205792).	24205792
KIT D419del	hematologic cancer	no benefit	Crenolanib	Preclinical - Cell culture	Actionable	In a preclinical study, cells expressing KIT D419del did not respond to treatment with Crenolanib in culture (PMID: 31182436).	31182436
KIT D419del	hematologic cancer	no benefit	Dasatinib	Preclinical - Cell culture	Actionable	In a preclinical study, cells expressing KIT D419del did not respond to treatment with Sprycel (dasatinib) in culture (PMID: 31182436).	31182436
KIT D419del	mastocytosis	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment resolved symptoms and stopped disease progression after 32 months in a pediatric patient with progressive cutaneous mastocytosis harboring a somatic KIT D419del and a germline S840N mutation (PMID: 18567837).	18567837
KIT D419del	Advanced Solid Tumor	predicted - sensitive	Imatinib	Preclinical - Biochemical	Actionable	In a preclinical study, Gleevec (imatinib) treatment inhibited Kit autophosphorylation in transformed cells expressing KIT D419del in culture (PMID: 16143141).	16143141
KIT P551_W557delinsL	gastrointestinal stromal tumor	predicted - sensitive	Ponatinib	Case Reports/Case Series	Actionable	In a clinical study, a GIST patient harboring KIT P551_W557delinsL, resistant to Gleevec (imatinib), Sutent (sunitinib), and Stivarga (regorafenib), demonstrated sensitivity to Iclusig (ponatinib) treatment, which resulted in tumor regression and stable disease (PMID: 25239608).	25239608
KIT M552_K558del	gastrointestinal stromal tumor	predicted - resistant	Ponatinib	Case Reports/Case Series	Actionable	In a clinical study, a GIST patient harboring KIT M552_K558del, resistant to multiple tyrosine kinase inhibitors, demonstrated resistance to Iclusig (ponatinib) treatment as indicated by disease progression after 4 weeks of treatment (PMID: 25239608).	25239608
KIT C809G	Advanced Solid Tumor	predicted - resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, KIT C809G was resistant to inhibition of phosphorylation by Gleevec (imatinib) in cultured cells (PMID: 16954519).	16954519
KIT D816X	systemic mastocytosis	not applicable	N/A	Guideline	Diagnostic	Activating mutations at codon 816 of KIT aid in the diagnosis of systemic mastocytosis (NCCN.org).	detail...
KIT P551_V555delinsTL	gastrointestinal stromal tumor	sensitive	Sorafenib	Preclinical - Pdx	Actionable	In a preclinical study, Nexavar (sorafenib) inhibited Erk signaling, induced apoptosis, resulted in tumor growth inhibition in patient derived xenograft models of gastrointestinal stromal tumor harboring KIT P551_V555delinsTL (PMID: 19139124).	19139124
KIT M552_D572del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment led to partial responses in two patients with gastrointestinal stromal tumors harboring KIT M552_D572del, with a progression-free survival (PFS) of 25.2 mo and overall survival (OS) of 32 mo in one patient, and a PFS of 50.9 mo and OS of 53.9 mo in the second patient (PMID: 18294292).	18294292
KIT P551_E554del	Advanced Solid Tumor	resistant	Imatinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT P551_E554del were resistant to treatment with Gleevec (imatinib) in culture (PMID: 25239608).	25239608
KIT P551_E554del	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT P551_E554del demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT P551_E554del	Advanced Solid Tumor	resistant	Regorafenib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT P551_E554del were resistant to treatment with Stivarga (regorafenib) in culture (PMID: 25239608).	25239608
KIT P551_E554del	Advanced Solid Tumor	resistant	Sunitinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT P551_E554del were resistant to treatment with Sutent (sunitinib) in culture (PMID: 25239608).	25239608
KIT I571_D579dup	Advanced Solid Tumor	predicted - resistant	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT I571_D579dup (KIT D579_H580insIDPTQLPYD) were moderately resistant to Gleevec (imatinib) in culture (PMID: 24205792).	24205792
KIT I571_D579dup	Advanced Solid Tumor	predicted - resistant	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT I571_D579dup (KIT D579_H580insIDPTQLPYD) were moderately resistant to Sutent (sunitinib) in culture (PMID: 24205792).	24205792
KIT I571_D579dup	Advanced Solid Tumor	predicted - resistant	Flumatinib	Preclinical - Cell culture	Actionable	In a preclinical study, transformed cells expressing KIT I571_D579dup (KIT D579_H580insIDPTQLPYD) were moderately resistant to Flumatinib in culture (PMID: 24205792).	24205792
KIT Q556_W557del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment resutled in a partial response in a patient with gastrointestinal stromal tumor harboring KIT Q556_W557del , with a progression-free survival of 26.8 months and an overall survival of 47 months (PMID: 18294292).	18294292
KIT V559_T574del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumors harboring KIT V559_T574del, with a progression-free survival of 28 months and an overall survival of 54.9 months (PMID: 18294292).	18294292
KIT K558_G565delinsR	gastrointestinal stromal tumor	sensitive	Imatinib	Preclinical - Pdx	Actionable	In a preclinical study, Gleevec (imatinib) treatment resulted in tumor regression and decreased mitotic activity in gastrointestinal stromal tumor patient derived xenograft (PDX) models harboring KIT K558_G565delinsR (PMID: 27777285).	27777285
KIT K558_G565delinsR	gastrointestinal stromal tumor	sensitive	Cabozantinib	Preclinical - Pdx	Actionable	In a preclinical study, Cometriq (Cabometyx, cabozantinib) treatment resulted in tumor regression, decreased mitotic activity, and increased apoptotic activity in a gastrointestinal stromal tumor patient-derived xenograft (PDX) model harboring KIT K558_G565delinsR (PMID: 27777285).	27777285
KIT exon13	melanoma	sensitive	Nilotinib	Phase II	Actionable	In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41), which included a partial response in 7.7% (1/13) of melanoma patients harboring KIT exon 13 mutations (PMID: 28327988).	28327988
KIT exon13	melanoma	sensitive	Nilotinib	Phase II	Actionable	In a Phase II trial, Tasigna (nilotinib) treatment resulted in complete response in 5% (1/19) and partial response in 21% (4/19) of melanoma patients harboring KIT exon 11 or exon 13 mutations (PMID: 28843487; NCT01168050).	28843487
KIT exon13	melanoma	sensitive	Regorafenib	Case Reports/Case Series	Actionable	In a Phase II trial, second or later-line Stivarga (regorafenib) treatment resulted in a disease control rate of 73.9% (17/23, 2 complete responses, 5 partial responses), an objective response rate of 30.4% (7/23), and median overall survival (mOS) of 21.5 months in patients with melanoma harboring KIT exon 9, 11, 13, or 17 mutations, and improved mOS in patients with non-exon 11 mutations compared to patients with exon 11 mutations (24.9 mo vs 18.3 mo, P=0.042) (PMID: 37741071; NCT02501551).	37741071
KIT exon13	melanoma	not predictive	Pembrolizumab	Clinical Study	Actionable	In a retrospective analysis, real-world treatment with either Keytruda (pembrolizumab) or Toripalimab (JS001) resulted in a median disease-free survival of 33 months in melanoma patients harboring KIT mutations in either exon 11 (64.8%), exon 13 (17.6%), or exon 17 (17.6%) compared to 32 months in patients with wild-type BRAF, NRAS, and KIT (p=0.200) (PMID: 37403699).	37403699
KIT exon13	gastrointestinal stromal tumor	sensitive	Imatinib + MK2206	Preclinical - Cell culture	Actionable	In a preclinical study, the combination of Gleevec (imatinib) and MK2206 demonstrated synergy in inhibiting growth of a gastrointestinal stromal tumor cell line harboring a KIT exon 13 mutation in culture (PMID: 27370604).	27370604
KIT exon13	melanoma	not predictive	Toripalimab-tpzi	Clinical Study	Actionable	In a retrospective analysis, real-world treatment with either Keytruda (pembrolizumab) or Loqtorz (toripalimab-tpzi) resulted in a median disease-free survival of 33 months in melanoma patients harboring KIT mutations in either exon 11 (64.8%), exon 13 (17.6%), or exon 17 (17.6%) compared to 32 months in patients with wild-type BRAF, NRAS, and KIT (p=0.200) (PMID: 37403699).	37403699
KIT exon13	gastrointestinal stromal tumor	sensitive	Adavosertib + Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, the combination of Adavosertib (MK-1775) and Ayvakit (avapritinib) synergized to inhibit growth of a gastrointestinal stromal tumor cell line harboring a KIT exon 13 mutation in culture (PMID: 33320833).	33320833
KIT exon17	melanoma	sensitive	Regorafenib	Case Reports/Case Series	Actionable	In a Phase II trial, second or later-line Stivarga (regorafenib) treatment resulted in a disease control rate of 73.9% (17/23, 2 complete responses, 5 partial responses), an objective response rate of 30.4% (7/23), and median overall survival (mOS) of 21.5 months in patients with melanoma harboring KIT exon 9, 11, 13, or 17 mutations, and improved mOS in patients with non-exon 11 mutations compared to patients with exon 11 mutations (24.9 mo vs 18.3 mo, P=0.042) (PMID: 37741071; NCT02501551).	37741071
KIT exon17	melanoma	not predictive	Pembrolizumab	Clinical Study	Actionable	In a retrospective analysis, real-world treatment with either Keytruda (pembrolizumab) or Toripalimab (JS001) resulted in a median disease-free survival of 33 months in melanoma patients harboring KIT mutations in either exon 11 (64.8%), exon 13 (17.6%), or exon 17 (17.6%) compared to 32 months in patients with wild-type BRAF, NRAS, and KIT (p=0.200) (PMID: 37403699).	37403699
KIT exon17	gastrointestinal stromal tumor	predicted - sensitive	PLX9486	Phase I	Actionable	In a Phase I trial, PLX9486 demonstrated safety and preliminary efficacy, resulted in a progression-free survival of more than 24 weeks and partial response in 8.3% (2/24) of patients with advanced solid tumors, 20 of these patients had gastrointestinal stromal tumor that progressed on Gleevec (imatinib mesylate), and most harbored KIT exon 11 and exon 17 mutations (Journal of Clinical Oncology 36, no. 15_suppl (May 20 2018) 11509-11509; NCT02401815).	detail...
KIT exon17	gastrointestinal stromal tumor	sensitive	Avapritinib	Phase I	Actionable	In a Phase I trial, Ayvakit (avapritinib) demonstrated preliminary antitumor activity in gastrointestinal stromal tumor patients harboring KIT mutations, with reduced tumor burden in 38% (5/13) of patients, including 1 partial response and 4 stable diseases, and 3 of the 5 responding patients harbored KIT exon 17 mutations (EORTC-NCI-AACR 2016, Abs 6LBA).	detail...
KIT exon17	mucosal melanoma	predicted - sensitive	Avapritinib	Case Reports/Case Series	Actionable	In a clinical case study, Ayvakit (avapritinib) resulted in a reduction of the metastatic lesions, including brain metastases, in a patient with mucosal melanoma harboring a KIT exon 17 mutation (PMID: 35820244).	35820244
KIT exon17	Advanced Solid Tumor	sensitive	Avapritinib	Preclinical	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of various tumor cell lines harboring KIT exon 17 mutations in culture, and induced tumor regression in an allograft animal model (PMID: 29093181).	29093181
KIT exon17	melanoma	not predictive	Toripalimab-tpzi	Clinical Study	Actionable	In a retrospective analysis, real-world treatment with either Keytruda (pembrolizumab) or Loqtorz (toripalimab-tpzi) resulted in a median disease-free survival of 33 months in melanoma patients harboring KIT mutations in either exon 11 (64.8%), exon 13 (17.6%), or exon 17 (17.6%) compared to 32 months in patients with wild-type BRAF, NRAS, and KIT (p=0.200) (PMID: 37403699).	37403699
KIT exon17	gastrointestinal stromal tumor	predicted - sensitive	Pexidartinib + PLX9486	Phase I	Actionable	In a Phase I trial, PLX9486 and Pexidartinib (PLX3397) combination therapy demonstrated safety and preliminary efficacy, resulted in a partial response rate of 8.3% (1/12) and progression-free survival not yet reached in patients with advanced solid tumors, 11 of these patients had gastrointestinal stromal tumor that progressed on Gleevec (imatinib mesylate), and most harbored KIT exon 11 and exon 17 mutations (Journal of Clinical Oncology 36, no. 15_suppl (May 20 2018) 11509-11509; NCT02401815).	detail...
KIT exon 11 del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Phase III	Actionable	In a Phase III trial, 3-year adjuvant Gleevec (imatinib) treatment resulted in an improved 10-year overall survival rate (86% vs 64%, HR=0.34, p=0.0007) and 10-year recurrence-free survival rate (47% vs 29%, HR=0.48, p<0.001) compared to 1-year adjuvant treatment in patients with gastrointestinal stromal tumors harboring KIT exon 11 deletion or indel mutations (PMID: 37014660; NCT00116935).	37014660
KIT exon 11 del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Phase III	Actionable	In a Phase III trial, gastrointestinal stromal tumor patients harboring KIT exon 11 deletions or indels demonstrated improved recurrence-free survival (RFS) with 3-year adjuvant Gleevec (imatinib) treatment (5-year RFS, 70%), compared to patients receiving 1-year treatment (5-year RFS, 41.3%) (PMID: 28334365).	28334365
KIT exon 11 del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Preclinical - Cell culture	Actionable	In a preclinical study, Gleevec (imatinib) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring KIT exon 11 deletion in culture (PMID: 31085175).	31085175
KIT exon 11 del	gastrointestinal stromal tumor	sensitive	Midostaurin	Preclinical - Cell culture	Actionable	In a preclinical study, Rydapt (midostaurin) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring KIT exon 11 deletion in culture (PMID: 31085175).	31085175
KIT exon 11 del	gastrointestinal stromal tumor	no benefit	Adavosertib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Adavosertib (MK-1775) treatment resulted in reduced cell viability of gastrointestinal stromal tumor cells harboring a KIT exon 11 deletion in culture, but did not lead to improved tumor growth inhibition or prolonged survival compared to controls in cell line xenograft models (PMID: 33320833).	33320833
KIT exon 11 del	gastrointestinal stromal tumor	sensitive	Regorafenib	Preclinical - Cell culture	Actionable	In a preclinical study, Stivarga (regorafenib) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring KIT exon 11 deletion in culture (PMID: 31085175).	31085175
KIT exon 11 del	gastrointestinal stromal tumor	sensitive	Sunitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Sutent (sunitinib) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring KIT exon 11 deletion in culture (PMID: 31085175).	31085175
KIT exon 11 del	gastrointestinal stromal tumor	sensitive	Avapritinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited cell growth and induced cell cycle arrest in gastrointestinal stromal tumor cells harboring a KIT exon 11 deletion in culture, and inhibited tumor growth and led to prolonged survival in cell line xenograft models (PMID: 33320833).	33320833
KIT exon 11 del	gastrointestinal stromal tumor	sensitive	Avapritinib	Preclinical - Cell culture	Actionable	In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring KIT exon 11 deletion in culture (PMID: 31085175).	31085175
KIT exon 11 del	gastrointestinal stromal tumor	sensitive	Ripretinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, Qinlock (ripretinib) inhibited Kit phosphorylation and proliferation of gastrointestinal stromal tumor cells harboring KIT exon 11 deletion, resulted in tumor regression in cell line xenograft models (PMID: 31085175).	31085175
KIT exon 11 del	gastrointestinal stromal tumor	sensitive	Adavosertib + Avapritinib	Preclinical - Cell line xenograft	Actionable	In a preclinical study, the combination of Adavosertib (MK-1775) and Ayvakit (avapritinib) demonstrated an additive effect on inhibiting cell growth and inducing apoptosis in gastrointestinal stromal tumor cells harboring a KIT exon 11 deletion in culture, and inhibited tumor growth and led to prolonged survival in cell line xenograft models (PMID: 33320833).	33320833
KIT exon 11 del	gastrointestinal stromal tumor	predicted - sensitive	THE-630	Preclinical - Cell culture	Actionable	In a preclinical study, THE-630 treatment inhibited cell viability and KIT signaling in a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion in culture (Cancer Res 2021;81(13_Suppl):Abstract nr 1292).	detail...
KIT M552_V559del	Advanced Solid Tumor	sensitive	Motesanib Diphosphate	Preclinical - Cell culture	Actionable	In a preclinical study, Motesanib (AMG 706) inhibited KIT phosphorylation and growth of cells expressing KIT M552_V559del in culture (PMID: 20633291).	20633291
KIT P551I KIT M552_V559del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumors harboring KIT M552_V559del and KIT P551I, with a progression-free survival of 9 months and an overall survival of 19.5 months (PMID: 18294292).	18294292
KIT W557_V559delinsF	gastrointestinal stromal tumor	sensitive	Avapritinib	Preclinical - Pdx	Actionable	In a preclinical study, Ayvakit (avapritinib) treatment resulted in tumor regression in patient-derived xenograft models of gastrointestinal stromal tumor harboring KIT W557_V559delinsF (PMID: 29093181).	29093181
KIT D419G	hematologic cancer	no benefit	Crenolanib	Preclinical - Cell culture	Actionable	In a preclinical study, cells expressing KIT D419G did not respond to treatment with Crenolanib in culture (PMID: 31182436).	31182436
KIT D419G	hematologic cancer	no benefit	Dasatinib	Preclinical - Cell culture	Actionable	In a preclinical study, cells expressing KIT D419G did not respond to treatment with Sprycel (dasatinib) in culture (PMID: 31182436).	31182436
KIT P551_K558del	Advanced Solid Tumor	sensitive	Imatinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT P551_K558del (reported as K550_W557del) demonstrated sensitivity to treatment with Gleevec (imatinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT P551_K558del	Advanced Solid Tumor	sensitive	Ponatinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT P551_K558del (reported as K550_W557del) demonstrated sensitivity to treatment with Iclusig (ponatinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT P551_K558del	Advanced Solid Tumor	sensitive	Regorafenib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT P551_K558del (reported as K550_W557del) demonstrated sensitivity to treatment with Stivarga (regorafenib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT P551_K558del	Advanced Solid Tumor	sensitive	Sunitinib	Preclinical	Actionable	In a preclinical study, transformed cells expressing KIT P551_K558del (reported as K550_W557del) demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608).	25239608
KIT E562_L576del	gastrointestinal stromal tumor	predicted - sensitive	Binimetinib + Imatinib	Case Reports/Case Series	Actionable	In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment resulted in an 80% pathological response and 23% RECIST response in a patient with a small bowel gastrointestinal stromal tumor harboring KIT E562_L576del (PMID: 35041493; NCT01991379).	35041493
KIT E554_Y570del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumor harboring KIT E554_Y570del, with a progression-free survival of 11.5 months and overall survival of 34.1 months (PMID: 18294292).	18294292
KIT V555_D572del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumor harboring KIT V555_D572del, with a progression-free survival of 49.4 mo and an overall survival of 59.3 mo (PMID: 18294292).	18294292
KIT V560_D572del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumors harboring KIT V560_D572del, with a progression-free survival of 16.5 months and an overall survival of 57.4 months (PMID: 18294292).	18294292
KIT Y570_Y578del	gastrointestinal stromal tumor	predicted - sensitive	Imatinib	Case Reports/Case Series	Actionable	In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumors harboring KIT Y570_Y578del, with a progression-free survival of 19.1 months and an overall survival of 53.2 months (PMID: 18294292).	18294292

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